| Year |
Citation |
Score |
| 2022 |
Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Luis Medina D, Spampanato C, Olind Fedele A, Polishchuk R, Sorrentino NC, Simons K, Ballabio A. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. The Embo Journal. e112402. PMID 36321514 DOI: 10.15252/embj.2022112402 |
0.64 |
|
| 2021 |
De Risi M, Tufano M, Alvino FG, Ferraro MG, Torromino G, Gigante Y, Monfregola J, Marrocco E, Pulcrano S, Tunisi L, Lubrano C, Papy-Garcia D, Tuchman Y, Salleo A, Santoro F, ... ... Ballabio A, et al. Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders. Nature Communications. 12: 3495. PMID 34108486 DOI: 10.1038/s41467-021-23903-5 |
0.668 |
|
| 2021 |
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, ... ... Ballabio A, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy. 1-382. PMID 33634751 DOI: 10.1080/15548627.2020.1797280 |
0.769 |
|
| 2020 |
Trivedi PC, Bartlett JJ, Mercer A, Slade L, Surette M, Ballabio A, Flibotte S, Hussein B, Rodrigues B, Kienesberger PC, Pulinilkunnil T. Loss of function of transcription factor EB remodels lipid metabolism and cell death pathways in the cardiomyocyte. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165832. PMID 32437957 DOI: 10.1016/J.Bbadis.2020.165832 |
0.343 |
|
| 2020 |
Peixoto E, Jin S, Thelen K, Biswas A, Richard S, Morleo M, Mansini A, Holtorf S, Carbone F, Pastore N, Ballabio A, Franco B, Gradilone SA. HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models. American Journal of Physiology. Gastrointestinal and Liver Physiology. PMID 32338033 DOI: 10.1152/Ajpgi.00033.2020 |
0.335 |
|
| 2019 |
Kobayashi T, Piao W, Takamura T, Kori H, Miyachi H, Kitano S, Iwamoto Y, Yamada M, Imayoshi I, Shioda S, Ballabio A, Kageyama R. Enhanced lysosomal degradation maintains the quiescent state of neural stem cells. Nature Communications. 10: 5446. PMID 31784517 DOI: 10.1038/S41467-019-13203-4 |
0.309 |
|
| 2019 |
Ballabio A, Bonifacino JS. Lysosomes as dynamic regulators of cell and organismal homeostasis. Nature Reviews. Molecular Cell Biology. PMID 31768005 DOI: 10.1038/S41580-019-0185-4 |
0.365 |
|
| 2019 |
De Cegli R, Iacobacci S, Fedele A, Ballabio A, di Bernardo D. A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells. Scientific Data. 6: 262. PMID 31695049 DOI: 10.1038/S41597-019-0281-5 |
0.386 |
|
| 2019 |
Curnock R, Calcagni A, Ballabio A, Cullen PJ. TFEB controls retromer expression in response to nutrient availability. The Journal of Cell Biology. PMID 31694921 DOI: 10.1083/Jcb.201903006 |
0.314 |
|
| 2019 |
Zhang H, Alsaleh G, Feltham J, Sun Y, Napolitano G, Riffelmacher T, Charles P, Frau L, Hublitz P, Yu Z, Mohammed S, Ballabio A, Balabanov S, Mellor J, Simon AK. Polyamines Control eIF5A Hypusination, TFEB Translation, and Autophagy to Reverse B Cell Senescence. Molecular Cell. PMID 31474573 DOI: 10.1016/J.Molcel.2019.08.005 |
0.304 |
|
| 2019 |
Pastore N, Ballabio A. Keeping the autophagy tempo. Autophagy. 1-3. PMID 31318631 DOI: 10.1080/15548627.2019.1645545 |
0.319 |
|
| 2019 |
Pastore N, Vainshtein A, Herz NJ, Huynh T, Brunetti L, Klisch TJ, Mutarelli M, Annunziata P, Kinouchi K, Brunetti-Pierri N, Sassone-Corsi P, Ballabio A. Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock. The Embo Journal. PMID 31126958 DOI: 10.15252/Embj.2018101347 |
0.367 |
|
| 2019 |
Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM. The lysosomal disease caused by mutant VPS33A. Human Molecular Genetics. PMID 31070736 DOI: 10.1093/Hmg/Ddz077 |
0.388 |
|
| 2019 |
Wang S, Ni HM, Chao X, Wang H, Bridges B, Kumer S, Schmitt T, Mareninova O, Gukovskaya A, De Lisle RC, Ballabio A, Pacher P, Ding WX. Impaired TFEB-Mediated Lysosomal Biogenesis Promotes the Development of Pancreatitis in Mice and Is Associated with Human Pancreatitis. Autophagy. PMID 30894069 DOI: 10.1080/15548627.2019.1596486 |
0.31 |
|
| 2018 |
Doronzo G, Astanina E, Corà D, Chiabotto G, Comunanza V, Noghero A, Neri F, Puliafito A, Primo L, Spampanato C, Settembre C, Ballabio A, Camussi G, Oliviero S, Bussolino F. TFEB controls vascular development by regulating the proliferation of endothelial cells. The Embo Journal. PMID 30591554 DOI: 10.15252/Embj.201798250 |
0.315 |
|
| 2018 |
Kinouchi K, Magnan C, Ceglia N, Liu Y, Cervantes M, Pastore N, Huynh T, Ballabio A, Baldi P, Masri S, Sassone-Corsi P. Fasting Imparts a Switch to Alternative Daily Pathways in Liver and Muscle. Cell Reports. 25: 3299-3314.e6. PMID 30566858 DOI: 10.1016/J.Celrep.2018.11.077 |
0.32 |
|
| 2018 |
Ambrosio S, Ballabio A, Majello B. Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase. Autophagy. PMID 30208749 DOI: 10.1080/15548627.2018.1520546 |
0.348 |
|
| 2018 |
Nnah IC, Wang B, Saqcena C, Weber GF, Bonder EM, Bagley D, De Cegli R, Napolitano G, Medina DL, Ballabio A, Dobrowolski R. TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy. Autophagy. PMID 30145926 DOI: 10.1080/15548627.2018.1511504 |
0.364 |
|
| 2018 |
Napolitano G, Esposito A, Choi H, Matarese M, Benedetti V, Di Malta C, Monfregola J, Medina DL, Lippincott-Schwartz J, Ballabio A. mTOR-dependent phosphorylation controls TFEB nuclear export. Nature Communications. 9: 3312. PMID 30120233 DOI: 10.1038/S41467-018-05862-6 |
0.307 |
|
| 2018 |
Puertollano R, Ferguson SM, Brugarolas J, Ballabio A. The complex relationship between TFEB transcription factor phosphorylation and subcellular localization. The Embo Journal. PMID 29764979 DOI: 10.15252/Embj.201798804 |
0.336 |
|
| 2018 |
Torra A, Parent A, Cuadros T, Rodríguez-Galván B, Ruiz-Bronchal E, Ballabio A, Bortolozzi A, Vila M, Bové J. Overexpression of TFEB Drives a Pleiotropic Neurotrophic Effect and Prevents Parkinson's Disease-Related Neurodegeneration. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 29628303 DOI: 10.1016/J.Ymthe.2018.02.022 |
0.342 |
|
| 2018 |
Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, et al. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Molecular Genetics and Metabolism. PMID 29397290 DOI: 10.1016/J.Ymgme.2018.01.005 |
0.3 |
|
| 2017 |
Bartolomeo R, Cinque L, De Leonibus C, Forrester A, Salzano AC, Monfregola J, De Gennaro E, Nusco E, Azario I, Lanzara C, Serafini M, Levine B, Ballabio A, Settembre C. mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy. The Journal of Clinical Investigation. PMID 28872463 DOI: 10.1172/Jci94130 |
0.34 |
|
| 2017 |
Sha Y, Rao L, Settembre C, Ballabio A, Eissa NT. STUB1 regulates TFEB-induced autophagy-lysosome pathway. The Embo Journal. PMID 28754656 DOI: 10.15252/Embj.201796699 |
0.364 |
|
| 2017 |
Di Malta C, Siciliano D, Calcagni A, Monfregola J, Punzi S, Pastore N, Eastes AN, Davis O, De Cegli R, Zampelli A, Di Giovannantonio LG, Nusco E, Platt N, Guida A, Ogmundsdottir MH, ... ... Ballabio A, et al. Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth. Science (New York, N.Y.). 356: 1188-1192. PMID 28619945 DOI: 10.1126/Science.Aag2553 |
0.336 |
|
| 2017 |
Sergin I, Evans TD, Zhang X, Bhattacharya S, Stokes CJ, Song E, Ali S, Dehestani B, Holloway KB, Micevych PS, Javaheri A, Crowley JR, Ballabio A, Schilling JD, Epelman S, et al. Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis. Nature Communications. 8: 15750. PMID 28589926 DOI: 10.1038/Ncomms15750 |
0.308 |
|
| 2017 |
Di Fruscio G, Banfi S, Nigro V, Ballabio A. Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex. Methods in Molecular Biology (Clifton, N.J.). 1594: 227-241. PMID 28456987 DOI: 10.1007/978-1-4939-6934-0_15 |
0.356 |
|
| 2017 |
Pastore N, Vainshtein A, Klisch TJ, Armani A, Huynh T, Herz NJ, Polishchuk EV, Sandri M, Ballabio A. TFE3 regulates whole-body energy metabolism in cooperation with TFEB. Embo Molecular Medicine. PMID 28283651 DOI: 10.15252/Emmm.201607204 |
0.3 |
|
| 2017 |
Pastore N, Attanasio S, Granese B, Teckman J, Wilson AA, Ballabio A, Brunetti-Pierri AN. Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin. Hepatology (Baltimore, Md.). PMID 28073160 DOI: 10.1002/Hep.29035 |
0.326 |
|
| 2016 |
Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP. Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2. Embo Reports. 17: 1901. PMID 27909074 DOI: 10.15252/embr.201570010 |
0.644 |
|
| 2016 |
Calcagnì A, Kors L, Verschuren E, De Cegli R, Zampelli N, Nusco E, Confalonieri S, Bertalot G, Pece S, Settembre C, Malouf GG, Leemans JC, de Heer E, Salvatore M, Peters DJ, ... ... Ballabio A, et al. Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling. Elife. 5. PMID 27668431 DOI: 10.7554/Elife.17047 |
0.3 |
|
| 2016 |
De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, ... ... Ballabio A, et al. Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nature Cell Biology. PMID 27398910 DOI: 10.1038/Ncb3386 |
0.34 |
|
| 2016 |
Napolitano G, Ballabio A. TFEB at a glance. Journal of Cell Science. 129: 2475-81. PMID 27252382 DOI: 10.1242/Jcs.146365 |
0.399 |
|
| 2016 |
Song JX, Sun YR, Peluso I, Zeng Y, Yu X, Lu JH, Xu Z, Wang MZ, Liu LF, Huang YY, Chen LL, Durairajan SS, Zhang HJ, Zhou B, Zhang HQ, ... ... Ballabio A, et al. A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition. Autophagy. 0. PMID 27172265 DOI: 10.1080/15548627.2016.1179404 |
0.349 |
|
| 2016 |
Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F. Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney International. 89: 862-873. PMID 26994576 DOI: 10.1016/J.Kint.2015.12.045 |
0.377 |
|
| 2016 |
Martini-Stoica H, Xu Y, Ballabio A, Zheng H. The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective. Trends in Neurosciences. PMID 26968346 DOI: 10.1016/J.Tins.2016.02.002 |
0.32 |
|
| 2016 |
Reddy K, Cusack CL, Nnah IC, Khayati K, Saqcena C, Huynh TB, Noggle SA, Ballabio A, Dobrowolski R. Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. Cell Reports. PMID 26923592 DOI: 10.1016/J.Celrep.2016.02.006 |
0.319 |
|
| 2016 |
Klionsky DJ, Abdelmohsen K, Abe A, Abedin J, Abeliovich H, Arozena AA, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, ... ... Ballabio A, et al. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356 Autophagy. 12: 443-443. PMID 26902590 DOI: 10.1080/15548627.2016.1147886 |
0.741 |
|
| 2016 |
Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, ... ... Ballabio A, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 12: 1-222. PMID 26799652 DOI: 10.1080/15548627.2015.1100356 |
0.779 |
|
| 2016 |
Ballabio A. The awesome lysosome. Embo Molecular Medicine. 8: 73-6. PMID 26787653 DOI: 10.15252/Emmm.201505966 |
0.37 |
|
| 2016 |
Bouché V, Perez Espinosa A, Leone L, Sardiello M, Ballabio A, Botas J. Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy. 0. PMID 26761346 DOI: 10.1080/15548627.2015.1134081 |
0.713 |
|
| 2015 |
Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 11: 928-38. PMID 26075876 DOI: 10.1080/15548627.2015.1043077 |
0.394 |
|
| 2015 |
Lapierre LR, Kumsta C, Sandri M, Ballabio A, Hansen M. Transcriptional and epigenetic regulation of autophagy in aging. Autophagy. 11: 867-80. PMID 25836756 DOI: 10.1080/15548627.2015.1034410 |
0.347 |
|
| 2015 |
Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, ... ... Ballabio A, et al. Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. Nature Cell Biology. 17: 288-99. PMID 25720963 DOI: 10.1038/Ncb3114 |
0.327 |
|
| 2014 |
Frankel LB, Di Malta C, Wen J, Eskelinen EL, Ballabio A, Lund AH. A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder. Nature Communications. 5: 5840. PMID 25524633 DOI: 10.1038/Ncomms6840 |
0.387 |
|
| 2014 |
Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, ... ... Ballabio A, et al. Multiple sulfatase deficiency with neonatal manifestation. Italian Journal of Pediatrics. 40: 86. PMID 25516103 DOI: 10.1186/S13052-014-0086-2 |
0.31 |
|
| 2014 |
Settembre C, Ballabio A. Cell metabolism: autophagy transcribed. Nature. 516: 40-1. PMID 25383529 DOI: 10.1038/Nature13939 |
0.339 |
|
| 2014 |
Polito VA, Li H, Martini-Stoica H, Wang B, Yang L, Xu Y, Swartzlander DB, Palmieri M, di Ronza A, Lee VM, Sardiello M, Ballabio A, Zheng H. Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB. Embo Molecular Medicine. 6: 1142-60. PMID 25069841 DOI: 10.15252/Emmm.201303671 |
0.673 |
|
| 2014 |
Settembre C, Ballabio A. Lysosome: regulator of lipid degradation pathways. Trends in Cell Biology. 24: 743-50. PMID 25061009 DOI: 10.1016/J.Tcb.2014.06.006 |
0.343 |
|
| 2014 |
Emanuel R, Sergin I, Bhattacharya S, Turner JN, Epelman S, Settembre C, Diwan A, Ballabio A, Razani B. Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae. Arteriosclerosis, Thrombosis, and Vascular Biology. 34: 1942-52. PMID 25060788 DOI: 10.1161/Atvbaha.114.303342 |
0.307 |
|
| 2014 |
Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van IJzendoorn SC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, ... ... Ballabio A, et al. Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. Developmental Cell. 29: 686-700. PMID 24909901 DOI: 10.1016/J.Devcel.2014.04.033 |
0.303 |
|
| 2014 |
Settembre C, Ballabio A. Lysosomal adaptation: how the lysosome responds to external cues. Cold Spring Harbor Perspectives in Biology. 6. PMID 24799353 DOI: 10.1101/Cshperspect.A016907 |
0.329 |
|
| 2014 |
Moskot M, Montefusco S, Jakóbkiewicz-Banecka J, Mozolewski P, Węgrzyn A, Di Bernardo D, Węgrzyn G, Medina DL, Ballabio A, Gabig-Cimińska M. The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation. The Journal of Biological Chemistry. 289: 17054-69. PMID 24770416 DOI: 10.1074/Jbc.M114.555300 |
0.412 |
|
| 2014 |
Tardieu M, Zérah M, Husson B, de Bournonville S, Deiva K, Adamsbaum C, Vincent F, Hocquemiller M, Broissand C, Furlan V, Ballabio A, Fraldi A, Crystal RG, Baugnon T, Roujeau T, et al. Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Human Gene Therapy. 25: 506-16. PMID 24524415 DOI: 10.1089/Hum.2013.238 |
0.675 |
|
| 2014 |
Quintavalle C, Di Costanzo S, Zanca C, Tasset I, Fraldi A, Incoronato M, Mirabelli P, Monti M, Ballabio A, Pucci P, Cuervo AM, Condorelli G. Phosphorylation-regulated degradation of the tumor-suppressor form of PED by chaperone-mediated autophagy in lung cancer cells. Journal of Cellular Physiology. 229: 1359-68. PMID 24477641 DOI: 10.1002/Jcp.24569 |
0.694 |
|
| 2013 |
Settembre C, Ballabio A. New targets for old diseases: lessons from mucolipidosis type II. Embo Molecular Medicine. 5: 1801-3. PMID 24293315 DOI: 10.1002/Emmm.201303496 |
0.406 |
|
| 2013 |
Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT. Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain : a Journal of Neurology. 136: 3119-39. PMID 24030950 DOI: 10.1093/Brain/Awt227 |
0.368 |
|
| 2013 |
Feeney EJ, Spampanato C, Puertollano R, Ballabio A, Parenti G, Raben N. What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease. Autophagy. 9: 1117-8. PMID 23669057 DOI: 10.4161/Auto.24920 |
0.354 |
|
| 2013 |
Settembre C, Fraldi A, Medina DL, Ballabio A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nature Reviews. Molecular Cell Biology. 14: 283-96. PMID 23609508 DOI: 10.1038/Nrm3565 |
0.706 |
|
| 2013 |
Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. Embo Molecular Medicine. 5: 691-706. PMID 23606558 DOI: 10.1002/Emmm.201202176 |
0.341 |
|
| 2013 |
Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A. TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nature Cell Biology. 15: 647-58. PMID 23604321 DOI: 10.1038/Ncb2718 |
0.329 |
|
| 2013 |
Ferron M, Settembre C, Shimazu J, Lacombe J, Kato S, Rawlings DJ, Ballabio A, Karsenty G. A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. Genes & Development. 27: 955-69. PMID 23599343 DOI: 10.1101/Gad.213827.113 |
0.345 |
|
| 2013 |
Pastore N, Ballabio A, Brunetti-Pierri N. Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers. Autophagy. 9: 1094-6. PMID 23584152 DOI: 10.4161/Auto.24469 |
0.319 |
|
| 2013 |
Sorrentino NC, D'Orsi L, Sambri I, Nusco E, Monaco C, Spampanato C, Polishchuk E, Saccone P, De Leonibus E, Ballabio A, Fraldi A. A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. Embo Molecular Medicine. 5: 675-90. PMID 23568409 DOI: 10.1002/Emmm.201202083 |
0.684 |
|
| 2013 |
Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. Embo Molecular Medicine. 5: 397-412. PMID 23381957 DOI: 10.1002/Emmm.201202046 |
0.331 |
|
| 2013 |
Bachetti T, Chiesa S, Castagnola P, Bani D, Di Zanni E, Omenetti A, D'Osualdo A, Fraldi A, Ballabio A, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS). Annals of the Rheumatic Diseases. 72: 1044-52. PMID 23117241 DOI: 10.1136/Annrheumdis-2012-201952 |
0.692 |
|
| 2013 |
Bachetti T, Chiesa S, Castagnola P, Bani D, Di Zanni E, Omenetti A, D'Osualdo A, Fraldi A, Ballabio A, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. OR7-006 – Autophagy as a player in inflammation in TRAPS Pediatric Rheumatology. 11. DOI: 10.1186/1546-0096-11-S1-A107 |
0.71 |
|
| 2012 |
Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, ... ... Ballabio A, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 8: 445-544. PMID 22966490 DOI: 10.4161/Auto.19496 |
0.301 |
|
| 2012 |
Di Malta C, Fryer JD, Settembre C, Ballabio A. Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proceedings of the National Academy of Sciences of the United States of America. 109: E2334-42. PMID 22826245 DOI: 10.1073/Pnas.1209577109 |
0.312 |
|
| 2012 |
Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy. 8: 719-30. PMID 22647656 DOI: 10.4161/Auto.19469 |
0.356 |
|
| 2012 |
Gennarino VA, D'Angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M, Banfi S. Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Research. 22: 1163-72. PMID 22345618 DOI: 10.1101/Gr.130435.111 |
0.644 |
|
| 2012 |
Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. The Embo Journal. 31: 1095-108. PMID 22343943 DOI: 10.1038/Emboj.2012.32 |
0.358 |
|
| 2012 |
de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A. Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. Human Molecular Genetics. 21: 1770-81. PMID 22215441 DOI: 10.1093/Hmg/Ddr610 |
0.689 |
|
| 2011 |
Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Palmieri M, Polishchuk R, Puertollano R, Ballabio A. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Developmental Cell. 21: 421-30. PMID 21889421 DOI: 10.1016/J.Devcel.2011.07.016 |
0.789 |
|
| 2011 |
Settembre C, Ballabio A. TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy. 7: 1379-81. PMID 21785263 DOI: 10.4161/Auto.7.11.17166 |
0.368 |
|
| 2011 |
Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Human Molecular Genetics. 20: 3852-66. PMID 21752829 DOI: 10.1093/Hmg/Ddr306 |
0.703 |
|
| 2011 |
Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A. TFEB links autophagy to lysosomal biogenesis. Science (New York, N.Y.). 332: 1429-33. PMID 21617040 DOI: 10.1126/Science.1204592 |
0.697 |
|
| 2011 |
Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A. Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Molecular Therapy : the Journal of the American Society of Gene Therapy. 19: 860-9. PMID 21326216 DOI: 10.1038/Mt.2010.299 |
0.699 |
|
| 2011 |
Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, ... ... Ballabio A, et al. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Plos Biology. 9: e1000582. PMID 21267068 DOI: 10.1371/Journal.Pbio.1000582 |
0.357 |
|
| 2010 |
Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C, Fedele AO, Polishchuk R, Sorrentino NC, Simons K, Ballabio A. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. The Embo Journal. 29: 3607-20. PMID 20871593 DOI: 10.1038/Emboj.2010.237 |
0.685 |
|
| 2010 |
Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina D, Settembre C, Gavina M, Pulze L, Giardino I, Pettoello-Mantovani M, D'Apolito M, Guido S, Masliah E, Spencer B, Quaratino S, ... ... Ballabio A, et al. Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nature Cell Biology. 12: 863-75. PMID 20711182 DOI: 10.1038/Ncb2090 |
0.339 |
|
| 2010 |
De Cegli R, Romito A, Iacobacci S, Mao L, Lauria M, Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, di Bernardo D, Banfi S, Ballabio A, Cobellis G. A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biology. 11: R64. PMID 20569505 DOI: 10.1186/Gb-2010-11-6-R64 |
0.321 |
|
| 2010 |
Romito A, Lonardo E, Roma G, Minchiotti G, Ballabio A, Cobellis G. Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2. Plos One. 5: e9029. PMID 20140255 DOI: 10.1371/Journal.Pone.0009029 |
0.3 |
|
| 2009 |
Sardiello M, Ballabio A. Lysosomal enhancement: a CLEAR answer to cellular degradative needs. Cell Cycle (Georgetown, Tex.). 8: 4021-2. PMID 19949301 DOI: 10.4161/Cc.8.24.10263 |
0.654 |
|
| 2009 |
Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. A gene network regulating lysosomal biogenesis and function. Science (New York, N.Y.). 325: 473-7. PMID 19556463 DOI: 10.1126/Science.1174447 |
0.719 |
|
| 2009 |
Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochimica Et Biophysica Acta. 1793: 684-96. PMID 19111581 DOI: 10.1016/J.Bbamcr.2008.12.001 |
0.339 |
|
| 2009 |
Gennarino VA, Sardiello M, Avellino R, Meola N, Maselli V, Anand S, Cutillo L, Ballabio A, Banfi S. MicroRNA target prediction by expression analysis of host genes. Genome Research. 19: 481-90. PMID 19088304 DOI: 10.1101/Gr.084129.108 |
0.638 |
|
| 2009 |
Settembre C, Arteaga-Solis E, Ballabio A, Karsenty G. Self-eating in skeletal development: implications for lysosomal storage disorders. Autophagy. 5: 228-9. PMID 19029806 DOI: 10.4161/Auto.5.2.7390 |
0.402 |
|
| 2008 |
Ballabio A, Antonarakis S. Welcome to PathoGenetics. Pathogenetics. 1: 1. PMID 19014665 DOI: 10.1186/1755-8417-1-1 |
0.375 |
|
| 2008 |
Settembre C, Arteaga-Solis E, McKee MD, de Pablo R, Al Awqati Q, Ballabio A, Karsenty G. Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification. Genes & Development. 22: 2645-50. PMID 18832069 DOI: 10.1101/Gad.1711308 |
0.325 |
|
| 2008 |
Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, et al. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Human Molecular Genetics. 17: 3487-501. PMID 18697795 DOI: 10.1093/Hmg/Ddn241 |
0.356 |
|
| 2008 |
Sardiello M, Cairo S, Fontanella B, Ballabio A, Meroni G. Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. Bmc Evolutionary Biology. 8: 225. PMID 18673550 DOI: 10.1186/1471-2148-8-225 |
0.674 |
|
| 2008 |
Yi? U, Pepe S, Kurul SH, Ballabio A, Cosma MP, Dirik E. Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. Brain & Development. 30: 374-7. PMID 18509892 DOI: 10.1016/J.Braindev.2007.10.007 |
0.335 |
|
| 2008 |
Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, Spampanato C, Ballabio A, Pucci P, Sitia R, Cosma MP. Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Human Molecular Genetics. 17: 2610-21. PMID 18508857 DOI: 10.1093/Hmg/Ddn161 |
0.717 |
|
| 2008 |
Settembre C, Fraldi A, Rubinsztein DC, Ballabio A. Lysosomal storage diseases as disorders of autophagy. Autophagy. 4: 113-4. PMID 18000397 DOI: 10.4161/Auto.5227 |
0.704 |
|
| 2008 |
Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A. A block of autophagy in lysosomal storage disorders. Human Molecular Genetics. 17: 119-29. PMID 17913701 DOI: 10.1093/Hmg/Ddm289 |
0.718 |
|
| 2008 |
Ballabio A, Pallini R, Natale PD. Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients Clinical Genetics. 25: 191-195. PMID 6231143 DOI: 10.1111/J.1399-0004.1984.Tb00484.X |
0.306 |
|
| 2007 |
Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 508-514. PMID 28182897 DOI: 10.1038/Sj.Mt.6300074 |
0.334 |
|
| 2007 |
Capotondo A, Cesani M, Pepe S, Fasano S, Gregori S, Tononi L, Venneri MA, Brambilla R, Quattrini A, Ballabio A, Cosma MP, Naldini L, Biffi A. Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. Human Gene Therapy. 18: 821-36. PMID 17845130 DOI: 10.1089/Hum.2007.048 |
0.351 |
|
| 2007 |
Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M. New mutations identified in the ocular albinism type 1 gene. Gene. 402: 20-7. PMID 17822861 DOI: 10.1016/J.Gene.2007.07.020 |
0.35 |
|
| 2007 |
Fraldi A, Hemsley K, Crawley A, Lombardi A, Lau A, Sutherland L, Auricchio A, Ballabio A, Hopwood JJ. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Human Molecular Genetics. 16: 2693-702. PMID 17725987 DOI: 10.1093/Hmg/Ddm223 |
0.704 |
|
| 2007 |
Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Human Mutation. 28: 928. PMID 17657823 DOI: 10.1002/Humu.9504 |
0.395 |
|
| 2007 |
Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP. Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. The Embo Journal. 26: 2443-53. PMID 17446859 DOI: 10.1038/Sj.Emboj.7601695 |
0.335 |
|
| 2007 |
Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, Ballabio A. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. Human Mutation. 28: 523. PMID 17397050 DOI: 10.1002/Humu.9488 |
0.377 |
|
| 2007 |
Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. American Journal of Physiology. Cell Physiology. 293: C191-8. PMID 17376816 DOI: 10.1152/Ajpcell.00583.2006 |
0.366 |
|
| 2007 |
Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A. Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proceedings of the National Academy of Sciences of the United States of America. 104: 4506-11. PMID 17360554 DOI: 10.1073/Pnas.0700382104 |
0.401 |
|
| 2007 |
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. American Journal of Human Genetics. 80: 751-8. PMID 17357080 DOI: 10.1086/513321 |
0.386 |
|
| 2007 |
Fraldi A, Biffi A, Lombardi A, Visigalli I, Pepe S, Settembre C, Nusco E, Auricchio A, Naldini L, Ballabio A, Cosma MP. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. The Biochemical Journal. 403: 305-12. PMID 17206939 DOI: 10.1042/Bj20061783 |
0.726 |
|
| 2007 |
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, ... ... Ballabio A, et al. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Human Mutation. 28: 265-72. PMID 17054105 DOI: 10.1002/Humu.20431 |
0.306 |
|
| 2006 |
Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. American Journal of Human Genetics. 79: 878-89. PMID 17033964 DOI: 10.1086/508474 |
0.33 |
|
| 2006 |
Franco B, Ballabio A. X-inactivation and human disease: X-linked dominant male-lethal disorders. Current Opinion in Genetics & Development. 16: 254-9. PMID 16650755 DOI: 10.1016/J.Gde.2006.04.012 |
0.327 |
|
| 2006 |
Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Human Mutation. 27: 420-6. PMID 16550551 DOI: 10.1002/Humu.20303 |
0.376 |
|
| 2006 |
Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Human Molecular Genetics. 15: 1225-36. PMID 16505002 DOI: 10.1093/Hmg/Ddl038 |
0.351 |
|
| 2005 |
Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Investigative Ophthalmology & Visual Science. 46: 4358-64. PMID 16303920 DOI: 10.1167/Iovs.05-0834 |
0.319 |
|
| 2005 |
Sardiello M, Annunziata I, Roma G, Ballabio A. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Human Molecular Genetics. 14: 3203-17. PMID 16174644 DOI: 10.1093/Hmg/Ddi351 |
0.703 |
|
| 2005 |
Diez-Roux G, Ballabio A. Sulfatases and human disease. Annual Review of Genomics and Human Genetics. 6: 355-79. PMID 16124866 DOI: 10.1146/Annurev.Genom.6.080604.162334 |
0.363 |
|
| 2005 |
Bulfone A, Carotenuto P, Faedo A, Aglio V, Garzia L, Bello AM, Basile A, Andrè A, Cocchia M, Guardiola O, Ballabio A, Rubenstein JL, Zollo M. Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 25: 7586-600. PMID 16107646 DOI: 10.1523/Jneurosci.0522-05.2005 |
0.377 |
|
| 2005 |
Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. American Journal of Medical Genetics. Part A. 137: 190-8. PMID 16059943 DOI: 10.1002/Ajmg.A.30864 |
0.345 |
|
| 2005 |
Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, Cellerino A, Marigo V, Tacchetti C, Ballabio A, Auricchio A. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Molecular Therapy : the Journal of the American Society of Gene Therapy. 12: 652-8. PMID 16023414 DOI: 10.1016/J.Ymthe.2005.06.001 |
0.322 |
|
| 2005 |
Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP. Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. Embo Reports. 6: 655-60. PMID 15962010 DOI: 10.1038/Sj.Embor.7400454 |
0.719 |
|
| 2005 |
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, ... ... Ballabio A, et al. The DNA sequence of the human X chromosome. Nature. 434: 325-37. PMID 15772651 DOI: 10.1038/Nature03440 |
0.305 |
|
| 2005 |
Cobellis G, Nicolaus G, Iovino M, Romito A, Marra E, Barbarisi M, Sardiello M, Di Giorgio FP, Iovino N, Zollo M, Ballabio A, Cortese R. Tagging genes with cassette-exchange sites. Nucleic Acids Research. 33: e44. PMID 15741177 DOI: 10.1093/Nar/Gni045 |
0.687 |
|
| 2005 |
Boccia A, Petrillo M, di Bernardo D, Guffanti A, Mignone F, Confalonieri S, Luzi L, Pesole G, Paolella G, Ballabio A, Banfi S. DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes. Nucleic Acids Research. 33: D505-10. PMID 15608249 DOI: 10.1093/Nar/Gki011 |
0.355 |
|
| 2004 |
Auwerx J, Avner P, Baldock R, Ballabio A, Balling R, Barbacid M, Berns A, Bradley A, Brown S, Carmeliet P, Chambon P, Cox R, Davidson D, Davies K, Duboule D, et al. The European dimension for the mouse genome mutagenesis program. Nature Genetics. 36: 925-7. PMID 15340424 DOI: 10.1038/Ng0904-925 |
0.318 |
|
| 2004 |
Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V. The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Molecular and Cellular Biology. 24: 6550-9. PMID 15254223 DOI: 10.1128/Mcb.24.15.6550-6559.2004 |
0.404 |
|
| 2004 |
Ferrante P, Messali S, Ballabio A, Meroni G. Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. Gene. 336: 155-61. PMID 15246527 DOI: 10.1016/J.Gene.2004.04.001 |
0.391 |
|
| 2004 |
Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, ... ... Ballabio A, et al. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Human Mutation. 23: 576-81. PMID 15146462 DOI: 10.1002/Humu.20040 |
0.31 |
|
| 2004 |
Monti E, Bassi MT, Bresciani R, Civini S, Croci GL, Papini N, Riboni M, Zanchetti G, Ballabio A, Preti A, Tettamanti G, Venerando B, Borsani G. Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. Genomics. 83: 445-53. PMID 14962670 DOI: 10.1016/J.Ygeno.2003.08.019 |
0.354 |
|
| 2003 |
Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. The Journal of Cell Biology. 163: 777-87. PMID 14623864 DOI: 10.1083/Jcb.200304112 |
0.327 |
|
| 2003 |
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics. Part A. 120: 222-8. PMID 12833403 DOI: 10.1002/Ajmg.A.10265 |
0.355 |
|
| 2003 |
Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 113: 445-56. PMID 12757706 DOI: 10.1016/S0092-8674(03)00348-9 |
0.418 |
|
| 2003 |
Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G. Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Annals of Neurology. 53: 376-81. PMID 12601705 DOI: 10.1002/Ana.10464 |
0.31 |
|
| 2003 |
Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. American Journal of Medical Genetics. Part A. 117: 164-8. PMID 12567415 DOI: 10.1002/Ajmg.A.10950 |
0.357 |
|
| 2003 |
Angeletti B, Löster J, Auricchio A, Gekeler F, Shinoda K, Ballabio A, Graw J, Marigo V. An in vivo doxycycline-controlled expression system for functional studies of the retina. Investigative Ophthalmology & Visual Science. 44: 755-60. PMID 12556410 DOI: 10.1167/Iovs.02-0340 |
0.338 |
|
| 2003 |
De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nature Genetics. 33: 192-6. PMID 12539047 DOI: 10.1038/Ng1081 |
0.303 |
|
| 2003 |
Ferrante P, Messali S, Meroni G, Ballabio A. Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG). European Journal of Human Genetics : Ejhg. 10: 813-8. PMID 12461688 DOI: 10.1038/Sj.Ejhg.5200887 |
0.368 |
|
| 2002 |
Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A. Human chromosome 21 gene expression atlas in the mouse Nature. 420: 582-586. PMID 12466854 DOI: 10.1038/Nature01178 |
0.349 |
|
| 2002 |
Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. American Journal of Human Genetics. 71: 952-8. PMID 12189593 DOI: 10.1086/342668 |
0.317 |
|
| 2002 |
Schiaffino MV, Dellambra E, Cortese K, Baschirotto C, Bondanza S, Clementi M, Nucci P, Ballabio A, Tacchetti C, De Luca M. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. Human Gene Therapy. 13: 947-57. PMID 12031127 DOI: 10.1089/10430340252939050 |
0.36 |
|
| 2002 |
Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Human Molecular Genetics. 11: 153-63. PMID 11809724 DOI: 10.1093/Hmg/11.2.153 |
0.345 |
|
| 2002 |
Pierantoni GM, Bulfone A, Pentimalli F, Fedele M, Iuliano R, Santoro M, Chiariotti L, Ballabio A, Fusco A. The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues. Biochemical and Biophysical Research Communications. 290: 942-7. PMID 11798164 DOI: 10.1006/Bbrc.2001.6310 |
0.348 |
|
| 2001 |
Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). Journal of Medical Genetics. 38: 411-7. PMID 11424926 DOI: 10.1136/Jmg.38.6.411 |
0.337 |
|
| 2001 |
Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A. The tripartite motif family identifies cell compartments. The Embo Journal. 20: 2140-51. PMID 11331580 DOI: 10.1093/Emboj/20.9.2140 |
0.342 |
|
| 2001 |
Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A. WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Human Molecular Genetics. 10: 617-27. PMID 11230181 DOI: 10.1093/Hmg/10.6.617 |
0.398 |
|
| 2001 |
Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Human Genetics. 108: 51-4. PMID 11214907 DOI: 10.1007/S004390000440 |
0.364 |
|
| 2001 |
Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, et al. Identification of the gene for oral-facial-digital type I syndrome. American Journal of Human Genetics. 68: 569-76. PMID 11179005 DOI: 10.1086/318802 |
0.374 |
|
| 2001 |
Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL, Manzoni M, Riboni M, ... Ballabio A, et al. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Human Molecular Genetics. 10: 305-16. PMID 11157794 DOI: 10.1093/Hmg/10.4.305 |
0.307 |
|
| 2001 |
d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Human Molecular Genetics. 9: 3011-8. PMID 11115845 DOI: 10.1093/Hmg/9.20.3011 |
0.363 |
|
| 2001 |
Buchner G, Broccoli V, Bulfone A, Orfanelli U, Gattuso C, Ballabio A, Franco B. MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives. Mechanisms of Development. 98: 179-82. PMID 11044626 DOI: 10.1016/S0925-4773(00)00462-7 |
0.327 |
|
| 2001 |
Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G. Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane. The Biochemical Journal. 349: 343-51. PMID 10861246 DOI: 10.1042/0264-6021:3490343 |
0.321 |
|
| 2000 |
Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A. Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Human Molecular Genetics. 9: 2781-8. PMID 11092754 DOI: 10.1093/Hmg/9.19.2781 |
0.327 |
|
| 2000 |
Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G. Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. American Journal of Human Genetics. 67: 1110-20. PMID 11013137 DOI: 10.1016/S0002-9297(07)62941-3 |
0.409 |
|
| 2000 |
Meroni G, Cairo S, Merla G, Messali S, Brent R, Ballabio A, Reymond A. Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? Oncogene. 19: 3266-77. PMID 10918583 DOI: 10.1038/Sj.Onc.1203634 |
0.355 |
|
| 2000 |
Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. American Journal of Human Genetics. 67: 563-73. PMID 10903929 DOI: 10.1086/303047 |
0.34 |
|
| 2000 |
Bulfone A, Menguzzato E, Broccoli V, Marchitiello A, Gattuso C, Mariani M, Consalez GG, Martinez S, Ballabio A, Banfi S. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Human Molecular Genetics. 9: 1443-52. PMID 10814725 DOI: 10.1093/Hmg/9.9.1443 |
0.377 |
|
| 2000 |
Buchner G, Orfanelli U, Quaderi N, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics. 65: 16-23. PMID 10777661 DOI: 10.1006/Geno.2000.6146 |
0.386 |
|
| 2000 |
Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, et al. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. American Journal of Human Genetics. 66: 92-9. PMID 10631139 DOI: 10.1086/302700 |
0.32 |
|
| 2000 |
Reymond A, Volorio S, Merla G, Al-Maghtheh M, Zuffardi O, Bulfone A, Ballabio A, Zollo M. Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. Oncogene. 18: 7244-52. PMID 10602478 DOI: 10.1038/Sj.Onc.1203140 |
0.339 |
|
| 2000 |
Monti E, Preti A, Nesti C, Ballabio A, Borsani G. Expression of a novel human sialidase encoded by the NEU2 gene. Glycobiology. 9: 1313-21. PMID 10561456 DOI: 10.1093/Glycob/9.12.1313 |
0.343 |
|
| 1999 |
Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM, Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G. SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. Genomics. 62: 297-303. PMID 10610726 DOI: 10.1006/Geno.1999.5978 |
0.319 |
|
| 1999 |
Buchner G, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 Region Genomics. 62: 113-118. PMID 10585778 DOI: 10.1006/Geno.1999.6015 |
0.324 |
|
| 1999 |
Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proceedings of the National Academy of Sciences of the United States of America. 96: 10729-34. PMID 10485894 DOI: 10.1073/Pnas.96.19.10729 |
0.321 |
|
| 1999 |
Bulfone A, Martinez S, Marigo V, Campanella M, Basile A, Quaderi N, Gattuso C, Rubenstein JL, Ballabio A. Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development. Mechanisms of Development. 84: 133-8. PMID 10473127 DOI: 10.1016/S0925-4773(99)00053-2 |
0.32 |
|
| 1999 |
Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nature Genetics. 23: 108-12. PMID 10471510 DOI: 10.1038/12715 |
0.303 |
|
| 1999 |
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, ... ... Ballabio A, et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nature Genetics. 23: 52-7. PMID 10471498 DOI: 10.1038/12652 |
0.322 |
|
| 1999 |
Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Evidence for genetic heterogeneity in benign familial hematuria. American Journal of Nephrology. 19: 464-7. PMID 10460935 DOI: 10.1159/000013499 |
0.305 |
|
| 1999 |
Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Human Molecular Genetics. 8: 1397-407. PMID 10400986 DOI: 10.1093/Hmg/8.8.1397 |
0.392 |
|
| 1999 |
Cainarca S, Messali S, Ballabio A, Meroni G. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Human Molecular Genetics. 8: 1387-96. PMID 10400985 DOI: 10.1093/Hmg/8.8.1387 |
0.374 |
|
| 1999 |
Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 59: 77-84. PMID 10395802 DOI: 10.1006/Geno.1999.5844 |
0.402 |
|
| 1999 |
Montini E, Buchner G, Spalluto C, Andolfi G, Caruso A, den Dunnen JT, Trump D, Rocchi M, Ballabio A, Franco B. Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics. 58: 65-72. PMID 10331946 DOI: 10.1006/Geno.1999.5755 |
0.37 |
|
| 1999 |
Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Identification of a new locus for medullary cystic disease, on chromosome 16p12. American Journal of Human Genetics. 64: 1655-60. PMID 10330352 DOI: 10.1086/302414 |
0.322 |
|
| 1999 |
Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, Beighton P, Ballabio A, Borsani G. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. American Journal of Human Genetics. 64: 1604-16. PMID 10330347 DOI: 10.1086/302408 |
0.4 |
|
| 1999 |
Monti E, Preti A, Rossi E, Ballabio A, Borsani G. Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases. Genomics. 57: 137-43. PMID 10191093 DOI: 10.1006/Geno.1999.5749 |
0.345 |
|
| 1999 |
Lavorgna G, Guffanti A, Borsani G, Ballabio A, Boncinelli E. TargetFinder: searching annotated sequence databases for target genes of transcription factors. Bioinformatics (Oxford, England). 15: 172-3. PMID 10089203 DOI: 10.1093/Bioinformatics/15.2.172 |
0.308 |
|
| 1999 |
Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Annals of Neurology. 45: 344-52. PMID 10072049 DOI: 10.1002/1531-8249(199903)45:3<344::Aid-Ana10>3.0.Co;2-9 |
0.327 |
|
| 1999 |
Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. American Journal of Human Genetics. 64: 62-9. PMID 9915944 DOI: 10.1086/302213 |
0.317 |
|
| 1999 |
Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S, Franco B. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics. 55: 68-77. PMID 9889000 DOI: 10.1006/Geno.1998.5610 |
0.348 |
|
| 1999 |
Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, et al. EYA4, a novel vertebrate gene related to Drosophila eyes absent. Human Molecular Genetics. 8: 11-23. PMID 9887327 DOI: 10.1093/Hmg/8.1.11 |
0.368 |
|
| 1999 |
Bulfone A, Gattuso C, Marchitiello A, Pardini C, Boncinelli E, Borsani G, Banfi S, Ballabio A. The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Human Molecular Genetics. 7: 1997-2006. PMID 9817915 DOI: 10.1093/Hmg/7.13.1997 |
0.378 |
|
| 1999 |
Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R. Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly Annals of Neurology. 45: 154-161. DOI: 10.1002/1531-8249(199902)45:2<154::Aid-Ana4>3.0.Co;2-P |
0.317 |
|
| 1998 |
de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 51: 243-50. PMID 9722947 DOI: 10.1006/Geno.1998.5348 |
0.354 |
|
| 1998 |
Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region Genomics. 51: 427-433. PMID 9721213 DOI: 10.1006/Geno.1998.5391 |
0.373 |
|
| 1998 |
Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. American Journal of Human Genetics. 63: 703-10. PMID 9718340 DOI: 10.1086/302010 |
0.345 |
|
| 1998 |
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 93: 973-83. PMID 9635427 DOI: 10.1016/S0092-8674(00)81203-9 |
0.345 |
|
| 1998 |
De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. American Journal of Human Genetics. 63: 135-9. PMID 9634528 DOI: 10.1086/301930 |
0.31 |
|
| 1998 |
Den Dunnen JT, Kraayenbrink T, Van Schooneveld M, Van Vosse ED, De Jong PTVM, Ten Brink JB, Schuurman E, Tijmes N, Van Ommen GJB, Bergen AAB, Andolfi G, Montini E, Li Y, Oudet C, Bolz H, ... ... Ballabio A, et al. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) Human Molecular Genetics. 7: 1185-1192. PMID 9618178 DOI: 10.1093/Hmg/7.7.1185 |
0.319 |
|
| 1998 |
Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? Journal of Medical Genetics. 35: 273-8. PMID 9598718 DOI: 10.1136/Jmg.35.4.273 |
0.362 |
|
| 1998 |
Lo Nigro C, Venesio T, Reymond A, Meroni G, Alberici P, Cainarca S, Enrico F, Stack M, Ledbetter DH, Liscia DS, Ballabio A, Carrozzo R. The human ROX gene: genomic structure and mutation analysis in human breast tumors. Genomics. 49: 275-82. PMID 9598315 DOI: 10.1006/Geno.1998.5241 |
0.39 |
|
| 1998 |
Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B. Identification and characterization of a novel member of the dystrobrevin gene family. Febs Letters. 425: 7-13. PMID 9540997 DOI: 10.1016/S0014-5793(98)00097-0 |
0.331 |
|
| 1998 |
Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. American Journal of Human Genetics. 62: 533-41. PMID 9497258 DOI: 10.1086/301761 |
0.398 |
|
| 1998 |
Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. American Journal of Human Genetics. 62: 562-72. PMID 9497243 DOI: 10.1086/301746 |
0.38 |
|
| 1998 |
Valsecchi C, Ghezzi C, Ballabio A, Rugarli EI. JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial-mesenchymal interactions. Mechanisms of Development. 69: 203-7. PMID 9486542 DOI: 10.1016/S0925-4773(97)00146-9 |
0.302 |
|
| 1998 |
Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics. 47: 350-8. PMID 9480748 DOI: 10.1006/Geno.1997.5104 |
0.379 |
|
| 1998 |
Rocchigiani M, Lestingi M, Luddi A, Orlandini M, Franco B, Rossi E, Ballabio A, Zuffardi O, Oliviero S. Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. Genomics. 47: 207-16. PMID 9479493 DOI: 10.1006/Geno.1997.5079 |
0.362 |
|
| 1998 |
Dal Zotto L, Quaderi NA, Elliott R, Lingerfelter PA, Carrel L, Valsecchi V, Montini E, Yen CH, Chapman V, Kalcheva I, Arrigo G, Zuffardi O, Thomas S, Willard HF, Ballabio A, et al. The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Human Molecular Genetics. 7: 489-99. PMID 9467009 DOI: 10.1093/Hmg/7.3.489 |
0.403 |
|
| 1998 |
Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. American Journal of Medical Genetics. 73: 139-43. PMID 9409863 DOI: 10.1002/(Sici)1096-8628(19971212)73:2<139::Aid-Ajmg7>3.0.Co;2-P |
0.348 |
|
| 1998 |
van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Human Genetics. 101: 235-7. PMID 9402977 DOI: 10.1007/S004390050622 |
0.361 |
|
| 1998 |
Petrella A, Doti I, Agosti V, Giarrusso PC, Vitale D, Bond H, Cuomo C, Tassone P, Franco B, Ballabio A, Venuta S, Morrone G. A 5′ Regulatory Sequence Containing Two Ets Motifs Controls the Expression of the Wiskott-Aldrich Syndrome Protein (WASP) Gene in Human Hematopoietic Cells Blood. 91: 4554-4560. DOI: 10.1182/Blood.V91.12.4554 |
0.372 |
|
| 1997 |
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, ... Ballabio A, et al. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genetics. 17: 285-91. PMID 9354791 DOI: 10.1038/Ng1197-285 |
0.397 |
|
| 1997 |
Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. American Journal of Human Genetics. 61: 395-401. PMID 9311745 DOI: 10.1086/514857 |
0.334 |
|
| 1997 |
Banfi S, Borsani G, Bulfone A, Ballabio A. Drosophila-related expressed sequences. Human Molecular Genetics. 6: 1745-53. PMID 9300667 DOI: 10.1093/Hmg/6.10.1745 |
0.384 |
|
| 1997 |
Adler DA, Rugarli EI, Lingenfelter PA, Tsuchiya K, Poslinski D, Liggitt HD, Chapman VM, Elliott RW, Ballabio A, Disteche CM. Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. Proceedings of the National Academy of Sciences of the United States of America. 94: 9244-8. PMID 9256467 DOI: 10.1073/Pnas.94.17.9244 |
0.337 |
|
| 1997 |
Gläser B, Grützner F, Taylor K, Schiebel K, Meroni G, Tsioupra K, Pasantes J, Rietschel W, Toder R, Willmann U, Zeitler S, Yen P, Ballabio A, Rappold G, Schempp W. Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. Chromosome Research : An International Journal On the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology. 5: 167-76. PMID 9246409 DOI: 10.1023/A:1018490713273 |
0.314 |
|
| 1997 |
Parenti G, Meroni G, Ballabio A. The sulfatase gene family. Current Opinion in Genetics & Development. 7: 386-91. PMID 9229115 DOI: 10.1016/S0959-437X(97)80153-0 |
0.36 |
|
| 1997 |
Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B. A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Human Molecular Genetics. 6: 1137-45. PMID 9215685 DOI: 10.1093/Hmg/6.7.1137 |
0.355 |
|
| 1997 |
Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics. 42: 192-9. PMID 9192838 DOI: 10.1006/Geno.1997.4716 |
0.385 |
|
| 1997 |
Meroni G, Reymond A, Alcalay M, Borsani G, Tanigami A, Tonlorenzi R, Lo Nigro C, Messali S, Zollo M, Ledbetter DH, Brent R, Ballabio A, Carrozzo R. Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. The Embo Journal. 16: 2892-906. PMID 9184233 DOI: 10.1093/Emboj/16.10.2892 |
0.373 |
|
| 1997 |
Ballabio A. Positional cloning, transcription mapping, and whole genome gene identification: the choice is yours! European Journal of Human Genetics : Ejhg. 4: 307. PMID 9043861 DOI: 10.1159/000472223 |
0.301 |
|
| 1997 |
Bassi MT, Incerti B, Easty DJ, Sviderskaya EV, Ballabio A. Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Genome Research. 6: 880-5. PMID 8889556 DOI: 10.1101/Gr.6.9.880 |
0.389 |
|
| 1997 |
Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. American Journal of Medical Genetics. 64: 583-7. PMID 8870926 DOI: 10.1002/(Sici)1096-8628(19960906)64:4<583::Aid-Ajmg11>3.0.Co;2-D |
0.312 |
|
| 1997 |
Auricchio A, Casari G, Staiano A, Ballabio A. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Human Molecular Genetics. 5: 351-4. PMID 8852659 DOI: 10.1093/Hmg/5.3.351 |
0.327 |
|
| 1997 |
Rugarli EI, Ghezzi C, Valsecchi V, Ballabio A. The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Human Molecular Genetics. 5: 1109-15. PMID 8842728 DOI: 10.1093/Hmg/5.8.1109 |
0.356 |
|
| 1997 |
Mills KA, Mathews KD, Scherpbier-Heddema T, Buetow KH, Baldini A, Ballabio A, Borsani G. Genetic and physical mapping of a voltage-dependent chloride channel gene to human 4q32 and to mouse 8. Genomics. 36: 374-6. PMID 8812471 DOI: 10.1006/Geno.1996.0480 |
0.306 |
|
| 1996 |
Ballabio A. MLS, Aicardi and Goltz syndromes: how many genes involved? American Journal of Medical Genetics. 59: 100. PMID 8848999 DOI: 10.1002/Ajmg.1320590120 |
0.32 |
|
| 1996 |
Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M, Ballabio A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Human Molecular Genetics. 5: 423-31. PMID 8845834 DOI: 10.1093/Hmg/5.4.423 |
0.353 |
|
| 1996 |
Casey B, Cuneo BF, Vitali C, van Hecke H, Barrish J, Hicks J, Ballabio A, Hoo JJ. Autosomal dominant transmission of familial laterality defects. American Journal of Medical Genetics. 61: 325-8. PMID 8834043 DOI: 10.1002/(Sici)1096-8628(19960202)61:4<325::Aid-Ajmg5>3.0.Co;2-T |
0.301 |
|
| 1996 |
Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proceedings of the National Academy of Sciences of the United States of America. 93: 9055-60. PMID 8799153 DOI: 10.1073/Pnas.93.17.9055 |
0.363 |
|
| 1996 |
Schaefer L, Ballabio A, Zoghbi HY. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 34: 166-72. PMID 8661044 DOI: 10.1006/Geno.1996.0261 |
0.369 |
|
| 1996 |
Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O, Ballabio A. Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nature Genetics. 13: 167-74. PMID 8640222 DOI: 10.1038/Ng0696-167 |
0.366 |
|
| 1995 |
Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, ... ... Ballabio A, et al. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. American Journal of Medical Genetics. 59: 380-5. PMID 8599366 DOI: 10.1002/Ajmg.1320590320 |
0.362 |
|
| 1995 |
Lutz B, Kuratani S, Rugarli EI, Wawersik S, Wong C, Bieber FR, Ballabio A, Eichele G. Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. Human Molecular Genetics. 3: 1717-23. PMID 7849694 DOI: 10.1093/Hmg/3.10.1717 |
0.305 |
|
| 1995 |
Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Human Mutation. 4: 195-8. PMID 7833948 DOI: 10.1002/Humu.1380040304 |
0.367 |
|
| 1995 |
Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Human Molecular Genetics. 4: 373-82. PMID 7795590 DOI: 10.1093/Hmg/4.3.373 |
0.41 |
|
| 1995 |
Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 81: 15-25. PMID 7720070 DOI: 10.1016/0092-8674(95)90367-4 |
0.388 |
|
| 1995 |
Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. American Journal of Medical Genetics. 57: 476-8. PMID 7677154 DOI: 10.1002/Ajmg.1320570323 |
0.35 |
|
| 1995 |
Rugarli EI, Adler DA, Borsani G, Tsuchiya K, Franco B, Hauge X, Disteche C, Chapman V, Ballabio A. Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nature Genetics. 10: 466-71. PMID 7670496 DOI: 10.1038/Ng0895-466 |
0.307 |
|
| 1995 |
Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A. Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics. 27: 131-41. PMID 7665160 DOI: 10.1006/Geno.1995.1015 |
0.346 |
|
| 1995 |
Bassi MT, Schiaffino MV, Renieri A, Nigris FD, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome Nature Genetics. 10: 13-19. PMID 7647783 DOI: 10.1038/Ng0595-13 |
0.37 |
|
| 1995 |
Wang I, Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, Levilliers J, Klink A, Rappold GA, Ballabio A, Petit C. High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics. 26: 229-38. PMID 7601447 DOI: 10.1016/0888-7543(95)80205-Z |
0.303 |
|
| 1995 |
Rugarli EI, Ballabio A. Reelin: a novel extracellular matrix protein involved in brain lamination. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 17: 832-4. PMID 7487964 DOI: 10.1002/Bies.950171003 |
0.318 |
|
| 1994 |
Lee WC, Ferrero GB, Chinault AC, Yen PH, Ballabio A. A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. Genomics. 18: 1-6. PMID 8276392 DOI: 10.1006/Geno.1993.1419 |
0.31 |
|
| 1994 |
Jensen TG, Jensen UB, Jensen PK, Ibsen HH, Brandrup F, Ballabio A, Bolund L. Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. Experimental Cell Research. 209: 392-7. PMID 8262159 DOI: 10.1006/Excr.1993.1326 |
0.345 |
|
| 1994 |
van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Human Molecular Genetics. 3: 547-52. PMID 8069296 DOI: 10.1093/Hmg/3.4.547 |
0.354 |
|
| 1994 |
Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A. A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Human Molecular Genetics. 3: 1155-61. PMID 7981686 DOI: 10.1093/Hmg/3.7.1155 |
0.335 |
|
| 1993 |
Lutz B, Rugarli EI, Eichele G, Ballabio A. X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? Febs Letters. 325: 128-34. PMID 8513884 DOI: 10.1016/0014-5793(93)81428-3 |
0.323 |
|
| 1993 |
Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A, Eichele G. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nature Genetics. 4: 19-26. PMID 8513320 DOI: 10.1038/Ng0593-19 |
0.323 |
|
| 1993 |
Marino M, Archidiacono N, Franzé A, Rosati M, Rocchi M, Ballabio A, Grimaldi G. A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression Mammalian Genome. 4: 252-257. PMID 8507979 DOI: 10.1007/Bf00417431 |
0.36 |
|
| 1993 |
Daniele A, Russo T, Ballabio A, Dinatale P. The Mouse Iduronate Sulfatase Gene: Identification of a Novel Transcript Biochemical and Biophysical Research Communications. 194: 1030-1037. PMID 8352760 DOI: 10.1006/Bbrc.1993.1925 |
0.318 |
|
| 1993 |
Daniele A, Faust CJ, Herman GE, Di Natale P, Ballabio A. Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. Genomics. 16: 755-7. PMID 8325651 DOI: 10.1006/Geno.1993.1259 |
0.342 |
|
| 1993 |
Incerti B, Guioli S, Pragliola A, Zanaria E, Borsani G, Tonlorenzi R, Bardoni B, Franco B, Wheeler D, Ballabio A. Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nature Genetics. 2: 311-4. PMID 1303285 DOI: 10.1038/Ng1292-311 |
0.322 |
|
| 1993 |
Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Human Molecular Genetics. 1: 221-7. PMID 1303191 DOI: 10.1093/Hmg/1.4.221 |
0.316 |
|
| 1993 |
Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nature Genetics. 1: 337-40. PMID 1302031 DOI: 10.1038/Ng0892-337 |
0.352 |
|
| 1993 |
Ballabio A, Rugarli E, Lutz B, Kuratani S, Wawersik S, Borsani G, Eichele G. KALLMANN SYNDROME: A DEFECT IN NEURAL TARGET RECOGNITION Pediatric Research. 33: S5-S5. DOI: 10.1203/00006450-199305001-00021 |
0.347 |
|
| 1993 |
Borsani G, Ballabio A. X chromosome gene dosage compensation in female mammals Seminars in Developmental Biology. 4: 129-139. DOI: 10.1006/Sedb.1993.1015 |
0.32 |
|
| 1992 |
Ballabio A. Contiguous deletion syndromes. Current Opinion in Genetics & Development. 1: 25-9. PMID 1840874 DOI: 10.1016/0959-437X(91)80036-L |
0.349 |
|
| 1992 |
Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. American Journal of Medical Genetics. 41: 184-7. PMID 1785631 DOI: 10.1002/Ajmg.1320410210 |
0.363 |
|
| 1992 |
Carrozzo R, Ellison J, Yen P, Taillon-Miller P, Brownstein BH, Persico G, Ballabio A, Shapiro L. Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. Genomics. 12: 7-12. PMID 1733866 DOI: 10.1016/0888-7543(92)90399-D |
0.356 |
|
| 1992 |
Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, Di Natale P, Gatti R, Ballabio A. The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. Genomics. 12: 52-7. PMID 1733863 DOI: 10.1016/0888-7543(92)90405-H |
0.365 |
|
| 1992 |
Bernatowicz LF, Li XM, Carrozzo R, Ballabio A, Mohandas T, Yen PH, Shapiro LJ. Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. Genomics. 13: 892-3. PMID 1639422 DOI: 10.1016/0888-7543(92)90179-V |
0.361 |
|
| 1992 |
Grompe M, Pieretti M, Caskey CT, Ballabio A. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. Genomics. 12: 755-60. PMID 1572648 DOI: 10.1016/0888-7543(92)90306-D |
0.311 |
|
| 1992 |
Ballabio A, Willard HF. Mammalian X-chromosome inactivation and the XIST gene Current Opinion in Genetics and Development. 2: 439-447. PMID 1504619 DOI: 10.1016/0960-9822(92)90082-L |
0.314 |
|
| 1992 |
Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect. Current Opinion in Genetics & Development. 2: 417-21. PMID 1504616 DOI: 10.1016/S0959-437X(05)80152-2 |
0.349 |
|
| 1992 |
Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect Current Biology. 2: 366. DOI: 10.1016/0960-9822(92)90066-J |
0.314 |
|
| 1991 |
Borsani G, Tonlorenzi R, Simmler MC, Dandolo L, Arnaud D, Capra V, Grompe M, Pizzuti A, Muzny D, Lawrence C, Willard HF, Avner P, Ballabio A. Characterization of a murine gene expressed from the inactive X chromosome Nature. 351: 325-329. PMID 2034278 DOI: 10.1038/351325A0 |
0.354 |
|
| 1991 |
Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome Nature. 349: 38-44. PMID 1985261 DOI: 10.1038/349038A0 |
0.326 |
|
| 1991 |
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, ... Ballabio A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 353: 529-36. PMID 1922361 DOI: 10.1038/353529A0 |
0.354 |
|
| 1990 |
Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proceedings of the National Academy of Sciences of the United States of America. 86: 10001-5. PMID 2602357 DOI: 10.1073/Pnas.86.24.10001 |
0.355 |
|
| 1990 |
Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Human Genetics. 84: 571-3. PMID 2338343 DOI: 10.1007/Bf00210812 |
0.304 |
|
| 1989 |
Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics. 4: 36-40. PMID 2644167 DOI: 10.1016/0888-7543(89)90311-X |
0.359 |
|
| 1988 |
Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. Human Genetics. 77: 338-41. PMID 3480263 DOI: 10.1007/Bf00291422 |
0.365 |
|
| 1988 |
Chase DS, Morris AH, Ballabio A, Pepper S, Giannelli F, Adinolfi M. Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis. Annals of Human Genetics. 50: 349-60. PMID 3126700 DOI: 10.1111/J.1469-1809.1986.Tb01756.X |
0.317 |
|
| 1987 |
Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Craig I, Rocchi M, Romeo G. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proceedings of the National Academy of Sciences of the United States of America. 84: 4519-23. PMID 3474618 DOI: 10.1073/Pnas.84.13.4519 |
0.305 |
|
| 1987 |
Ballabio A, Carrozzo R, Parenti G, Sebastio G, Persico MG, Andria G. CLINICAL SPECTRUM AND MOLECULAR BASIS OF STEROID SULPHATASE DEFICIENCY Pediatric Research. 22: 238-238. DOI: 10.1203/00006450-198708000-00148 |
0.333 |
|
| 1986 |
Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Human Genetics. 72: 237-40. PMID 3007328 DOI: 10.1007/Bf00291885 |
0.308 |
|
| 1985 |
Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Human Genetics. 70: 315-7. PMID 3860470 DOI: 10.1007/Bf00295367 |
0.311 |
|
| Show low-probability matches. |