| Year |
Citation |
Score |
| 2020 |
Pascua-Maestro R, Corraliza-Gomez M, Fadrique-Rojo C, Ledesma MD, Schuchman EH, Sanchez D, Ganfornina MD. Apolipoprotein D-mediated preservation of lysosomal function promotes cell survival and delays motor impairment in Niemann-Pick type A disease. Neurobiology of Disease. 105046. PMID 32798728 DOI: 10.1016/J.Nbd.2020.105046 |
0.389 |
|
| 2020 |
Gardner AI, Haq IJ, Simpson AJ, Becker KA, Gallagher J, Saint-Criq V, Verdon B, Mavin E, Trigg A, Gray MA, Koulman A, McDonnell MJ, Fisher AJ, Kramer EL, Clancy JP, ... ... Schuchman EH, et al. Recombinant Acid Ceramidase Reduces Inflammation and Infection in Cystic Fibrosis. American Journal of Respiratory and Critical Care Medicine. PMID 32569477 DOI: 10.1164/Rccm.202001-0180Oc |
0.351 |
|
| 2020 |
Ledesma MD, Bartoll A, Schuchman EH. Inhibition of fatty acid amide hydrolase prevents pathology in a mouse model of acid sphingomyelinase deficiency by rescuing downregulated endocannabinoid signalling Molecular Genetics and Metabolism. 129: S96. DOI: 10.1016/J.Ymgme.2019.11.241 |
0.345 |
|
| 2019 |
Melum E, Jiang X, Baker KD, Macedo MF, Fritsch J, Dowds CM, Wang J, Pharo A, Kaser A, Tan C, Pereira CS, Kelly SL, Duan J, Karlsen TH, Exley MA, ... ... Schuchman EH, et al. Control of CD1d-restricted antigen presentation and inflammation by sphingomyelin. Nature Immunology. PMID 31636468 DOI: 10.1038/S41590-019-0504-0 |
0.375 |
|
| 2019 |
Samaranch L, Pérez-Cañamás A, Soto-Huelin B, Sudhakar V, Jurado-Arjona J, Hadaczek P, Ávila J, Bringas JR, Casas J, Chen H, He X, Schuchman EH, Cheng SH, Forsayeth J, Bankiewicz KS, et al. Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A. Science Translational Medicine. 11. PMID 31434754 DOI: 10.1126/Scitranslmed.Aat3738 |
0.377 |
|
| 2019 |
Ordóñez YF, Abad JL, Aseeri M, Casas J, Garcia V, Casasampere M, Schuchman EH, Levade T, Delgado A, Triola G, Fabrias G. Activity-Based Imaging of Acid Ceramidase in Living Cells. Journal of the American Chemical Society. PMID 31030513 DOI: 10.1021/Jacs.8B11687 |
0.37 |
|
| 2019 |
Baduva K, Büchter L, Kreyenkamp K, Westphal L, Wilker B, Kohnen M, Schuchman EH, Edwards MJ, Becker KA, Gulbins E, Carpinteiro A. Signalling Effects Induced by Acid Ceramidase in Human Epithelial Or Leukemic Cell Lines. Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology. 52: 1092-1102. PMID 30977990 DOI: 10.33594/000000074 |
0.339 |
|
| 2019 |
Sampey BP, Duke KS, Sampey GC, Gaukel EJ, Solyom A, Wring SA, He X, Zhu C, DeAngelis V, Schuchman EH, Coquery CM. The pro-inflammatory immunophenotype of a Farber disease mouse model is ameliorated by repeated dosing with RVT-801, a developmental enzyme replacement therapy for Farber disease Molecular Genetics and Metabolism. 126: S128. DOI: 10.1016/J.Ymgme.2018.12.329 |
0.34 |
|
| 2019 |
Mucci JM, Bondar C, Crivaro A, Ormazabal M, Schuchman E, Simonaro C, Rozenfeld P. Evaluation of PPS treatment in osteoclast-osteoblast imbalance using in vitro models of Gaucher disease Molecular Genetics and Metabolism. 126: S103. DOI: 10.1016/J.Ymgme.2018.12.259 |
0.339 |
|
| 2019 |
Duke KS, Coquery CM, Gaukel EJ, He X, Schuchman EH, Rhodes M, Solyom A, Sampey BP. RVT-801, a developmental enzyme replacement therapy for Farber disease, ameliorates characteristic features of the disease phenotype in a Farber mouse model Molecular Genetics and Metabolism. 126: S50. DOI: 10.1016/J.Ymgme.2018.12.112 |
0.349 |
|
| 2018 |
Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Molecular Genetics and Metabolism. PMID 30514648 DOI: 10.1016/J.Ymgme.2018.11.014 |
0.376 |
|
| 2018 |
Kaddi CD, Niesner B, Baek R, Jasper P, Pappas J, Tolsma J, Li J, van Rijn Z, Tao M, Ortemann-Renon C, Easton R, Tan S, Puga AC, Schuchman EH, Barrett JS, et al. Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology. Cpt: Pharmacometrics & Systems Pharmacology. PMID 29920993 DOI: 10.1016/J.Ymgme.2016.11.171 |
0.364 |
|
| 2018 |
Becker KA, Riethmüller J, Seitz AP, Gardner A, Boudreau R, Kamler M, Kleuser B, Schuchman E, Caldwell CC, Edwards MJ, Grassmé H, Brodlie M, Gulbins E. Sphingolipids as targets for inhalation treatment of cystic fibrosis. Advanced Drug Delivery Reviews. PMID 29698625 DOI: 10.1016/J.Addr.2018.04.015 |
0.347 |
|
| 2018 |
Gaukel E, Coquery C, Sampey B, Schuchman E, Wring SA. Prediction of the human equivalent dose (HED) of RVT-801, a recombinant human acid ceramidase, for the treatment of Farber disease Molecular Genetics and Metabolism. 123: S50. DOI: 10.1016/J.Ymgme.2017.12.116 |
0.319 |
|
| 2018 |
Gaukel E, Coquery C, Sampey B, Schuchman E, Wring SA. Pharmacokinetics and tissue distribution of RVT-801, a recombinant human acid ceramidase, at efficacious doses in a murine model of Farber disease Molecular Genetics and Metabolism. 123: S50. DOI: 10.1016/J.Ymgme.2017.12.115 |
0.325 |
|
| 2017 |
Espaillat MP, Snider AJ, Qiu Z, Channer B, Coant N, Schuchman EH, Kew RR, Sheridan BS, Hannun YA, Obeid LM. Loss of acid ceramidase in myeloid cells suppresses intestinal neutrophil recruitment. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. PMID 29259036 DOI: 10.1096/Fj.201700585R |
0.327 |
|
| 2017 |
Wang N, Zhang Y, Gedvilaite E, Loh JW, Lin T, Liu X, Liu CG, Kumar D, Donnelly R, Raymond K, Schuchman EH, Sleat DE, Lobel P, Xing J. Using whole exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. Human Mutation. PMID 28703315 DOI: 10.1002/Humu.23291 |
0.339 |
|
| 2017 |
Garnacho C, Dhami R, Solomon M, Schuchman EH, Muro S. Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 28606376 DOI: 10.1016/J.Ymthe.2017.05.014 |
0.36 |
|
| 2017 |
He X, Dworski S, Zhu C, DeAngelis V, Solyom A, Medin JA, Simonaro CM, Schuchman EH. Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. Bba Clinical. 7: 85-96. PMID 28275553 DOI: 10.1016/J.Bbacli.2017.02.001 |
0.398 |
|
| 2017 |
Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease. Molecular Genetics and Metabolism. 120: 27-33. PMID 28164782 DOI: 10.1016/J.Ymgme.2016.12.008 |
0.376 |
|
| 2017 |
Schuchman EH, Mitchell J, Solyom A. Morbidity and mortality associated with Farber disease and prospects for therapy Expert Opinion On Orphan Drugs. 5: 717-726. DOI: 10.1080/21678707.2017.1359086 |
0.353 |
|
| 2017 |
Solyom A, Nwosu EO, Mitchell J, Beck M, Hügle B, Tetzl D, Schuchman EH. Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are likely underrepresented in the medical literature and are underdiagnosed Molecular Genetics and Metabolism. 120: S124-S125. DOI: 10.1016/J.Ymgme.2016.11.325 |
0.31 |
|
| 2017 |
Schuchman EH, He X, Dworski S, Zhu C, DeAngelis V, Solyom A, Levade T, Medin JA, Simonaro CM. Proof-of-concept studies underlying enzyme replacement therapy for acid ceramidase deficiency Molecular Genetics and Metabolism. 120: S120. DOI: 10.1016/J.Ymgme.2016.11.310 |
0.335 |
|
| 2016 |
Dworski S, Lu P, Khan A, Maranda B, Mitchell JJ, Parini R, Di Rocco M, Hugle B, Yoshimitsu M, Magnusson B, Makay B, Arslan N, Guelbert N, Ehlert K, Jarisch A, ... ... Schuchman EH, et al. Acid Ceramidase Deficiency is Characterized by a Unique Plasma Cytokine and Ceramide Profile that is Altered by Therapy. Biochimica Et Biophysica Acta. PMID 27915031 DOI: 10.1016/J.Bbadis.2016.11.031 |
0.315 |
|
| 2016 |
Tan SF, Liu X, Fox TE, Barth BM, Sharma A, Turner SD, Awwad A, Dewey A, Doi K, Spitzer B, Shah MV, Morad SA, Desai D, Amin S, Zhu J, ... ... Schuchman EH, et al. Acid ceramidase is upregulated in AML and represents a novel therapeutic target. Oncotarget. PMID 27825124 DOI: 10.18632/Oncotarget.13079 |
0.355 |
|
| 2016 |
Acuña M, Castro-Fernandez V, Latorre M, Castro J, Schuchman EH, Guixe V, González M, Zanlungo S. Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. Biochemical and Biophysical Research Communications. PMID 27659707 DOI: 10.1016/J.Bbrc.2016.09.096 |
0.334 |
|
| 2016 |
Teoh HL, Solyom A, Schuchman EH, Mowat D, Roscioli T, Farrar M, Sampaio H. Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency. Pediatrics. PMID 27650050 DOI: 10.1542/Peds.2016-1068 |
0.371 |
|
| 2016 |
Guthrie G, Kulkarni M, Vlaardingerbroek H, Stoll B, Ng K, Martin C, Belmont J, Hadsell D, Heird W, Newgard CB, Olutoye O, van Goudoever J, Lauridsen C, He X, Schuchman EH, et al. Multi-Omic Profiles of Hepatic Metabolism in TPN-fed Preterm Pigs Administered New Generation Lipid Emulsions. Journal of Lipid Research. PMID 27474222 DOI: 10.1194/Jlr.M069526 |
0.301 |
|
| 2016 |
Schuchman EH. Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy. Biochimica Et Biophysica Acta. 1862: 1459-1471. PMID 27155573 DOI: 10.1016/J.Bbadis.2016.05.001 |
0.377 |
|
| 2016 |
Schuchman EH, Wasserstein MP. Types A and B Niemann-Pick disease Best Practice and Research: Clinical Endocrinology and Metabolism. 29: 237-247. PMID 25987176 DOI: 10.1016/J.Beem.2014.10.002 |
0.363 |
|
| 2015 |
Frohbergh M, He X, Schuchman EH. The molecular medicine of acid ceramidase Biological Chemistry. 396: 759-765. PMID 25938220 DOI: 10.1515/Hsz-2014-0290 |
0.411 |
|
| 2015 |
Acuña M, Martínez P, Moraga C, He X, Moraga M, Hunter B, Nuernberg P, Gutiérrez RA, González M, Schuchman EH, Luis Santos J, Miquel JF, Mabe P, Zanlungo S. Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. European Journal of Human Genetics : Ejhg. PMID 25920558 DOI: 10.1038/Ejhg.2015.89 |
0.337 |
|
| 2015 |
Solyom A, Ehlert K, Hügle B, Magnusson B, Grigelioniene G, Guelbert N, Gardner-Medwin J, Tanpaiboon P, Jung L, Puri R, DiRocco M, Mitchell J, Beck M, Simonaro C, Schuchman E. SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients Annals of the Rheumatic Diseases. 74: 838.3-839. DOI: 10.1136/Annrheumdis-2015-Eular.6024 |
0.382 |
|
| 2015 |
Pewzner-Jung Y, Tabazavareh ST, Grassmé H, Becker KA, Japtok L, Steinmann J, Joseph T, Lang S, Tümmler B, Schuchman EH, Lentsch AB, Kleuser B, Edwards MJ, Futerman AH, Gulbins E. 38 Sphingoid long chain bases prevent lung infection by Pseudomonas aeruginosa Journal of Cystic Fibrosis. 14. DOI: 10.1016/S1569-1993(15)30215-0 |
0.304 |
|
| 2015 |
Solyom A, Simonaro CM, He X, Schuchman EH. Acid ceramidase deficiency: Clinical implications of an emerging phenotypic spectrum and potential therapies Molecular Genetics and Metabolism. 114: S109. DOI: 10.1016/J.Ymgme.2014.12.248 |
0.315 |
|
| 2015 |
Schuchman EH, Clancy J, Dimango E, Petrache I, Gulbins E, He X. Novel use of the lysosomal enzyme acid ceramidase for the treatment of inflammatory lung diseases, including cystic fibrosis Molecular Genetics and Metabolism. 114: S104-S105. DOI: 10.1016/J.Ymgme.2014.12.236 |
0.348 |
|
| 2014 |
Lee H, Lee JK, Park MH, Hong YR, Marti HH, Kim H, Okada Y, Otsu M, Seo EJ, Park JH, Bae JH, Okino N, He X, Schuchman EH, Bae JS, et al. Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons. Nature Communications. 5: 5514. PMID 25417698 DOI: 10.1038/Ncomms6514 |
0.559 |
|
| 2014 |
Pewzner-Jung Y, Tavakoli Tabazavareh S, Grassmé H, Becker KA, Japtok L, Steinmann J, Joseph T, Lang S, Tuemmler B, Schuchman EH, Lentsch AB, Kleuser B, Edwards MJ, Futerman AH, Gulbins E. Sphingoid long chain bases prevent lung infection by Pseudomonas aeruginosa. Embo Molecular Medicine. 6: 1205-14. PMID 25085879 DOI: 10.15252/Emmm.201404075 |
0.304 |
|
| 2014 |
Lee JK, Jin HK, Park MH, Kim BR, Lee PH, Nakauchi H, Carter JE, He X, Schuchman EH, Bae JS. Acid sphingomyelinase modulates the autophagic process by controlling lysosomal biogenesis in Alzheimer's disease. The Journal of Experimental Medicine. 211: 1551-70. PMID 25049335 DOI: 10.1084/Jem.20132451 |
0.336 |
|
| 2014 |
Arroyo AI, Camoletto PG, Morando L, Sassoe-Pognetto M, Giustetto M, Van Veldhoven PP, Schuchman EH, Ledesma MD. Pharmacological reversion of sphingomyelin-induced dendritic spine anomalies in a Niemann Pick disease type A mouse model Embo Molecular Medicine. 6: 398-413. PMID 24448491 DOI: 10.1002/Emmm.201302649 |
0.346 |
|
| 2014 |
Sólyom A, Karabul N, Hügle B, Simonaro C, Schuchman E. Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation Pediatric Rheumatology. 12. DOI: 10.1186/1546-0096-12-S1-P285 |
0.369 |
|
| 2014 |
Simonaro C, Frohbergh M, Ge Y, Meng F, He X, DeAngelis V, Karabul N, Sόlyom A, Schuchman E. THU0361 Bone and Joint Disease in Mucopolysaccharidosis Involves Tlr4-Related Inflammation and Improves upon Treatment with Pentosan Polysulphate Annals of the Rheumatic Diseases. 73: 307.2-307. DOI: 10.1136/Annrheumdis-2014-Eular.3340 |
0.343 |
|
| 2014 |
Sόlyom A, Karabul N, Simonaro C, Galanin I, Schuchman E. AB0880 Farber Disease Diagnosed as Juvenile Idiopathic Arthritis Annals of the Rheumatic Diseases. 73: 1092.2-1092. DOI: 10.1136/Annrheumdis-2014-Eular.2532 |
0.373 |
|
| 2014 |
Schuchman E. A132: Farber Disease Explains Subset of Juvenile Idiopathic Arthritis Arthritis & Rheumatology. 66: S173-S173. DOI: 10.1002/Art.38553 |
0.373 |
|
| 2014 |
Simonaro C, Frohbergh M, Ge Y, Meng F, Schuchman E. A63: Treatment of Arthritis in Animal Models of the Mucopolysaccharidoses Using a Novel Anti-Inflammatory Drug, Pentosan Polysulfate Arthritis & Rheumatology. 66: S93-S93. DOI: 10.1002/Art.38479 |
0.318 |
|
| 2013 |
Alayoubi AM, Wang JC, Au BC, Carpentier S, Garcia V, Dworski S, El-Ghamrasni S, Kirouac KN, Exertier MJ, Xiong ZJ, Privé GG, Simonaro CM, Casas J, Fabrias G, Schuchman EH, et al. Systemic ceramide accumulation leads to severe and varied pathological consequences. Embo Molecular Medicine. 5: 827-42. PMID 23681708 DOI: 10.1002/Emmm.201202301 |
0.42 |
|
| 2013 |
Simonaro CM, Sachot S, Ge Y, He X, Deangelis VA, Eliyahu E, Leong DJ, Sun HB, Mason JB, Haskins ME, Richardson DW, Schuchman EH. Acid ceramidase maintains the chondrogenic phenotype of expanded primary chondrocytes and improves the chondrogenic differentiation of bone marrow-derived mesenchymal stem cells. Plos One. 8: e62715. PMID 23638138 DOI: 10.1371/Journal.Pone.0062715 |
0.325 |
|
| 2013 |
Schuchman EH, Simonaro CM. The genetics of sphingolipid hydrolases and sphingolipid storage diseases Handbook of Experimental Pharmacology. 215: 3-32. PMID 23579447 DOI: 10.1007/978-3-7091-1368-4_1 |
0.387 |
|
| 2013 |
McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease Genetics in Medicine. 15: 618-623. PMID 23412609 DOI: 10.1038/Gim.2013.4 |
0.316 |
|
| 2013 |
Savić R, Schuchman EH. Use of Acid Sphingomyelinase for Cancer Therapy Advances in Cancer Research. 117: 91-115. PMID 23290778 DOI: 10.1016/B978-0-12-394274-6.00004-2 |
0.338 |
|
| 2013 |
Papademetriou J, Garnacho C, Serrano D, Bhowmick T, Schuchman EH, Muro S. Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor. Journal of Inherited Metabolic Disease. 36: 467-77. PMID 22968581 DOI: 10.1007/S10545-012-9534-6 |
0.303 |
|
| 2013 |
Schuchman E, He X, DeAngelis V, Simonaro C. Acid ceramidase: One enzyme with multiple therapeutic uses Molecular Genetics and Metabolism. 108: S82-S83. DOI: 10.1016/J.Ymgme.2012.11.221 |
0.329 |
|
| 2012 |
Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal diseases: Lessons from 20 years of experience and remaining challenges Annual Review of Genomics and Human Genetics. 13: 307-335. PMID 22970722 DOI: 10.1146/Annurev-Genom-090711-163739 |
0.356 |
|
| 2012 |
Eliyahu E, Shtraizent N, Shalgi R, Schuchman EH. Construction of conditional acid ceramidase knockout mice and in vivo effects on oocyte development and fertility Cellular Physiology and Biochemistry. 30: 735-748. PMID 22854249 DOI: 10.1159/000341453 |
0.35 |
|
| 2012 |
Bu J, Ashe KM, Bringas J, Marshall J, Dodge JC, Cabrera-Salazar MA, Forsayeth J, Schuchman EH, Bankiewicz KS, Cheng SH, Shihabuddin LS, Passini MA. Merits of combination cortical, subcortical, and cerebellar injections for the treatment of Niemann-Pick disease type A. Molecular Therapy : the Journal of the American Society of Gene Therapy. 20: 1893-901. PMID 22828503 DOI: 10.1038/Mt.2012.118 |
0.375 |
|
| 2012 |
Lee JK, Schuchman EH, Jin HK, Bae JS. Soluble CCL5 derived from bone marrow-derived mesenchymal stem cells and activated by amyloid β ameliorates Alzheimer's disease in mice by recruiting bone marrow-induced microglia immune responses Stem Cells. 30: 1544-1555. PMID 22570192 DOI: 10.1002/Stem.1125 |
0.311 |
|
| 2012 |
He X, Schuchman EH. Potential role of acid sphingomyelinase in environmental health Journal of Central South University (Medical Sciences). 37: 109-125. PMID 22561428 DOI: 10.3969/J.Issn.1672-7347.2012.02.001 |
0.336 |
|
| 2012 |
Smith EL, Schuchman E, Hoffman R. Abstract LB-165: The role of sphingolipid metabolism in the treatment of acute myeloid leukemia Cancer Research. 72. DOI: 10.1158/1538-7445.Am2012-Lb-165 |
0.312 |
|
| 2012 |
Schuchman E, Simonaro C, Wasserstein M, Desnick R. The Demographics and Distribution of Mutations Associated with Acid Sphingomyelinase-Deficient (Types A & B) Niemann-Pick Disease Molecular Genetics and Metabolism. 105: S56. DOI: 10.1016/J.Ymgme.2011.11.146 |
0.349 |
|
| 2012 |
Schuchman E, Sachot S, Haskins M, Simonaro C. A Novel Use for Acid Ceramidase in Cell-Based Therapies For Degenerative Joint Diseases, Including the Mucopolysaccharidoses Molecular Genetics and Metabolism. 105: S56. DOI: 10.1016/J.Ymgme.2011.11.145 |
0.359 |
|
| 2011 |
Eliyahu E, Shtraizent N, He X, Chen D, Shalgi R, Schuchman EH. Identification of cystatin SA as a novel inhibitor of acid ceramidase Journal of Biological Chemistry. 286: 35624-35633. PMID 21846728 DOI: 10.1074/Jbc.M111.260372 |
0.334 |
|
| 2011 |
Shin JW, Lee JK, Lee JE, Min WK, Schuchman EH, Jin HK, Bae JS. Combined effects of hematopoietic progenitor cell mobilization from bone marrow by granulocyte colony stimulating factor and AMD3100 and chemotaxis into the brain using stromal cell-derived factor-1α in an Alzheimer's disease mouse model Stem Cells. 29: 1075-1089. PMID 21608078 DOI: 10.1002/Stem.659 |
0.336 |
|
| 2011 |
Ledesma MD, Prinetti A, Sonnino S, Schuchman EH. Brain pathology in Niemann Pick disease type A: Insights from the acid sphingomyelinase knockout mice Journal of Neurochemistry. 116: 779-788. PMID 21214563 DOI: 10.1111/J.1471-4159.2010.07034.X |
0.391 |
|
| 2011 |
Prinetti A, Prioni S, Chiricozzi E, Schuchman EH, Chigorno V, Sonnino S. Secondary alterations of sphingolipid metabolism in lysosomal storage diseases Neurochemical Research. 36: 1654-1668. PMID 21207141 DOI: 10.1111/J.1742-4658.2011.08137.X |
0.355 |
|
| 2011 |
Simonaro C, Sachot S, Eliyahu E, Sun H, Schuchman E. 234 ACID CERAMIDASE IMPROVES THE CHONDROGENIC PHENOTYPE OF PRIMARY AND MESENCHYMAL STEM CELL-DERIVED CHONDROCYTES: IMPLICATIONS FOR CARTILAGE REPAIR Osteoarthritis and Cartilage. 19: S114-S115. DOI: 10.1016/S1063-4584(11)60261-6 |
0.303 |
|
| 2011 |
Schuchman E, Ge Y, Eliyahu E, Jepsen K, Simonaro C. 121 CARTILAGE AND BONE DISEASE IN RATS WITH MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY DISEASE): A NEW, NATURALLY OCCURRING ANIMAL MODEL OF ARTHRITIS Osteoarthritis and Cartilage. 19: S62-S63. DOI: 10.1016/S1063-4584(11)60148-9 |
0.307 |
|
| 2010 |
Dhami R, He X, Schuchman EH. Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice Cellular Physiology and Biochemistry. 26: 749-760. PMID 21063112 DOI: 10.1159/000322342 |
0.353 |
|
| 2010 |
Devlin C, Pipalia NH, Liao X, Schuchman EH, Maxfield FR, Tabas I. Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect. Traffic (Copenhagen, Denmark). 11: 601-15. PMID 20412078 DOI: 10.1111/J.1600-0854.2010.01046.X |
0.376 |
|
| 2010 |
Lee H, Lee JK, Min WK, Bae JH, He X, Schuchman EH, Bae JS, Jin HK. Bone marrow-derived mesenchymal stem cells prevent the loss of niemann-pick type C mouse purkinje neurons by correcting sphingolipid metabolism and increasing sphingosine-1-phosphate Stem Cells. 28: 821-831. PMID 20201063 DOI: 10.1002/Stem.401 |
0.312 |
|
| 2010 |
Simonaro CM, Ge Y, Eliyahu E, He X, Jepsen KJ, Schuchman EH. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proceedings of the National Academy of Sciences of the United States of America. 107: 222-7. PMID 20018674 DOI: 10.1073/Pnas.0912937107 |
0.314 |
|
| 2010 |
Schuchman EH. Acid sphingomyelinase, cell membranes and human disease: Lessons from Niemann-Pick disease Febs Letters. 584: 1895-1900. PMID 19944693 DOI: 10.1016/J.Febslet.2009.11.083 |
0.377 |
|
| 2010 |
He X, Huang Y, Li B, Gong CX, Schuchman EH. Deregulation of sphingolipid metabolism in Alzheimer's disease. Neurobiology of Aging. 31: 398-408. PMID 18547682 DOI: 10.1016/J.Neurobiolaging.2008.05.010 |
0.309 |
|
| 2009 |
Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. International Journal of Clinical Pharmacology and Therapeutics. 47: S48-57. PMID 20040312 DOI: 10.5414/CPP47048 |
0.311 |
|
| 2009 |
Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Human Mutation. 30: 1117-22. PMID 19405096 DOI: 10.1002/Humu.21018 |
0.337 |
|
| 2009 |
Ziegler RJ, Brown C, Barbon CM, D'Angona AM, Schuchman EH, Andrews L, Thurberg BL, McPherson JM, Karey KP, Cheng SH. Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease. Molecular Genetics and Metabolism. 97: 35-42. PMID 19231265 DOI: 10.1016/J.Ymgme.2009.01.008 |
0.307 |
|
| 2009 |
Buccinnà B, Piccinini M, Prinetti A, Scandroglio F, Prioni S, Valsecchi M, Votta B, Grifoni S, Lupino E, Ramondetti C, Schuchman EH, Giordana MT, Sonnino S, Rinaudo MT. Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A. Journal of Neurochemistry. 109: 105-15. PMID 19187445 DOI: 10.1111/J.1471-4159.2009.05947.X |
0.334 |
|
| 2009 |
Dodge JC, Clarke J, Treleaven CM, Taksir TV, Griffiths DA, Yang W, Fidler JA, Passini MA, Karey KP, Schuchman EH, Cheng SH, Shihabuddin LS. Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Experimental Neurology. 215: 349-57. PMID 19059399 DOI: 10.1016/J.Expneurol.2008.10.021 |
0.42 |
|
| 2009 |
Bianco F, Perrotta C, Novellino L, Francolini M, Riganti L, Menna E, Saglietti L, Schuchman EH, Furlan R, Clementi E, Matteoli M, Verderio C. Acid sphingomyelinase activity triggers microparticle release from glial cells (The EMBO Journal (2009) 28 (1043-1054) DOI:10.1038/emboj.2009.45) Embo Journal. 28: 1374. DOI: 10.1038/Emboj.2009.110 |
0.304 |
|
| 2009 |
Schuchman E, Jones I, Katouzian F. 123. Construction & characterization of mutation-specific mouse models for Types A and B Niemann–Pick disease Molecular Genetics and Metabolism. 96: S39. DOI: 10.1016/J.Ymgme.2008.11.124 |
0.334 |
|
| 2009 |
Eliyahu E, Shtraizent N, Barritt J, Martinuzzi K, Copperman A, Schuchman E. Acid ceramidase expression in human oocytes and embryos Fertility and Sterility. 92: S229. DOI: 10.1016/J.Fertnstert.2009.07.1554 |
0.301 |
|
| 2009 |
Eliyahu E, Shtraizent N, Chuang L, Barritt J, Copperman A, Schuchman E. Acid ceramidase expression in human cumulus cells post-retrieval may be used to assess oocyte quality Fertility and Sterility. 92: S215-S216. DOI: 10.1016/J.Fertnstert.2009.07.1504 |
0.305 |
|
| 2008 |
Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, Churchill GC, Schuchman EH, Galione A, Platt FM. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nature Medicine. 14: 1247-55. PMID 18953351 DOI: 10.1038/Nm.1876 |
0.354 |
|
| 2008 |
Jones I, He X, Katouzian F, Darroch PI, Schuchman EH. Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models Molecular Genetics and Metabolism. 95: 152-162. PMID 18815062 DOI: 10.1016/J.Ymgme.2008.08.004 |
0.378 |
|
| 2008 |
Macauley SL, Sidman RL, Schuchman EH, Taksir T, Stewart GR. Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration. Experimental Neurology. 214: 181-92. PMID 18778708 DOI: 10.1016/J.Expneurol.2008.07.026 |
0.37 |
|
| 2008 |
Scandroglio F, Venkata JK, Loberto N, Prioni S, Schuchman EH, Chigorno V, Prinetti A, Sonnino S. Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice Journal of Neurochemistry. 107: 329-338. PMID 18673449 DOI: 10.1111/J.1471-4159.2008.05591.X |
0.303 |
|
| 2008 |
Devlin CM, Leventhal AR, Kuriakose G, Schuchman EH, Williams KJ, Tabas I. Acid sphingomyelinase promotes lipoprotein retention within early atheromata and accelerates lesion progression. Arteriosclerosis, Thrombosis, and Vascular Biology. 28: 1723-30. PMID 18669882 DOI: 10.1161/Atvbaha.108.173344 |
0.345 |
|
| 2008 |
Smith EL, Schuchman EH. Acid sphingomyelinase overexpression enhances the antineoplastic effects of irradiation in vitro and in vivo. Molecular Therapy : the Journal of the American Society of Gene Therapy. 16: 1565-71. PMID 18628757 DOI: 10.1038/Mt.2008.145 |
0.335 |
|
| 2008 |
Smith EL, Schuchman EH. The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 22: 3419-31. PMID 18567738 DOI: 10.1096/Fj.08-108043 |
0.422 |
|
| 2008 |
Garnacho C, Dhami R, Simone E, Dziubla T, Leferovich J, Schuchman EH, Muzykantov V, Muro S. Delivery of acid sphingomyelinase in normal and niemann-pick disease mice using intercellular adhesion molecule-1-targeted polymer nanocarriers Journal of Pharmacology and Experimental Therapeutics. 325: 400-408. PMID 18287213 DOI: 10.1124/Jpet.107.133298 |
0.365 |
|
| 2008 |
Shtraizent N, Eliyahu E, Park JH, He X, Shalgi R, Schuchman EH. Autoproteolytic cleavage and activation of human acid ceramidase Journal of Biological Chemistry. 283: 11253-11259. PMID 18281275 DOI: 10.1074/Jbc.M709166200 |
0.588 |
|
| 2008 |
Simonaro CM, D'Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, Schuchman EH. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. The American Journal of Pathology. 172: 112-22. PMID 18079441 DOI: 10.2353/Ajpath.2008.070564 |
0.365 |
|
| 2008 |
Schuchman E, Jones I. 87. Structural and functional properties of four common mutations causing acid sphingomyelinase-deficient Niemann–Pick disease Molecular Genetics and Metabolism. 93: 36. DOI: 10.1016/J.Ymgme.2007.10.099 |
0.344 |
|
| 2007 |
Fotoulaki M, Schuchman EH, Simonaro CM, Augoustides-Savvopoulou P, Michelakakis H, Panagopoulou P, Varlamis G, Nousia-Arvanitakis S. Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child Journal of Inherited Metabolic Disease. 30: 986. PMID 17876723 DOI: 10.1007/S10545-007-0557-3 |
0.357 |
|
| 2007 |
Perrotta C, Bizzozero L, Falcone S, Rovere-Querini P, Prinetti A, Schuchman EH, Sonnino S, Manfredi AA, Clementi E. Nitric oxide boosts chemoimmunotherapy via inhibition of acid sphingomyelinase in a mouse model of melanoma Cancer Research. 67: 7559-7564. PMID 17699758 DOI: 10.1158/0008-5472.Can-07-0309 |
0.327 |
|
| 2007 |
Yang WW, Dodge JC, Passini MA, Taksir TV, Griffiths D, Schuchman EH, Cheng SH, Shihabuddin LS. Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouse. Experimental Neurology. 207: 258-66. PMID 17686472 DOI: 10.1016/J.Expneurol.2007.06.017 |
0.367 |
|
| 2007 |
Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease Journal of Inherited Metabolic Disease. 30: 654-663. PMID 17632693 DOI: 10.1007/S10545-007-0632-9 |
0.41 |
|
| 2007 |
Butler A, Gordon RE, Gatt S, Schuchman EH. Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases American Journal of Pathology. 170: 2077-2088. PMID 17525274 DOI: 10.2353/Ajpath.2007.061002 |
0.35 |
|
| 2007 |
Passini MA, Bu J, Fidler JA, Ziegler RJ, Foley JW, Dodge JC, Yang WW, Clarke J, Taksir TV, Griffiths DA, Zhao MA, O'Riordan CR, Schuchman EH, Shihabuddin LS, Cheng SH. Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouse. Proceedings of the National Academy of Sciences of the United States of America. 104: 9505-10. PMID 17517638 DOI: 10.1073/Pnas.0703509104 |
0.325 |
|
| 2007 |
Ellinwood NM, Colle MA, Weil MA, Casal ML, Vite CH, Wiemelt S, Hasson CW, O'Malley TM, He X, Prociuk U, Verot L, Melniczek JR, Lannon A, Aguirre GD, Knox VW, ... ... Schuchman EH, et al. Bone marrow transplantation for feline mucopolysaccharidosis I. Molecular Genetics and Metabolism. 91: 239-50. PMID 17482862 DOI: 10.1016/J.Ymgme.2007.03.001 |
0.314 |
|
| 2007 |
Bae JS, Han HS, Youn DH, Carter JE, Modo M, Schuchman EH, Jin HK. Bone marrow-derived mesenchymal stem cells promote neuronal networks with functional synaptic transmission after transplantation into mice with neurodegeneration. Stem Cells (Dayton, Ohio). 25: 1307-16. PMID 17470534 DOI: 10.1634/Stemcells.2006-0561 |
0.319 |
|
| 2007 |
Eliyahu E, Park JH, Shtraizent N, He X, Schuchman EH. Acid ceramidase is a novel factor required for early embryo survival Faseb Journal. 21: 1403-1409. PMID 17264167 DOI: 10.1096/Fj.06-7016Com |
0.601 |
|
| 2007 |
Schuchman EH, Dhami R, Muro S. 51 The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease Molecular Genetics and Metabolism. 92: 23. DOI: 10.1016/J.Ymgme.2007.08.056 |
0.37 |
|
| 2006 |
Park JH, Schuchman EH. Acid ceramidase and human disease Biochimica Et Biophysica Acta - Biomembranes. 1758: 2133-2138. PMID 17064658 DOI: 10.1016/J.Bbamem.2006.08.019 |
0.648 |
|
| 2006 |
Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH. Imprinting at the SMPD1 locus: Implications for acid sphingomyelinase- deficient Niemann-Pick disease American Journal of Human Genetics. 78: 865-870. PMID 16642440 DOI: 10.1086/503750 |
0.617 |
|
| 2006 |
Dhami R, Passini MA, Schuchman EH. Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice Molecular Therapy. 13: 556-564. PMID 16214420 DOI: 10.1016/J.Ymthe.2005.08.020 |
0.397 |
|
| 2006 |
Muro S, Schuchman EH, Muzykantov VR. Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis. Molecular Therapy : the Journal of the American Society of Gene Therapy. 13: 135-41. PMID 16153895 DOI: 10.1016/J.Ymthe.2005.07.687 |
0.376 |
|
| 2006 |
Passini MA, Bu J, Fidler JA, Foley JW, Dodge JC, Ziegler RJ, Yang WW, Clarke J, Taksir TV, Griffiths DA, Zhao MA, O'Riordan CR, Shihabuddin LS, Schuchman EH, Cheng SH. 417. Combination Brain and Systemic Injections of AAV Results in Whole Body Therapy and Extension of Lifespan in the Niemann-Pick Mouse Molecular Therapy. 13. DOI: 10.1016/J.Ymthe.2006.08.481 |
0.313 |
|
| 2005 |
Park JH, Eliyahu E, Narla G, DiFeo A, Martignetti JA, Schuchman EH. KLF6 is one transcription factor involved in regulating acid ceramidase gene expression Biochimica Et Biophysica Acta - Gene Structure and Expression. 1732: 82-87. PMID 16500425 DOI: 10.1016/J.Bbaexp.2006.01.002 |
0.602 |
|
| 2005 |
Dodge JC, Clarke J, Song A, Bu J, Yang W, Taksir TV, Griffiths D, Zhao MA, Schuchman EH, Cheng SH, O'Riordan CR, Shihabuddin LS, Passini MA, Stewart GR. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease. Proceedings of the National Academy of Sciences of the United States of America. 102: 17822-7. PMID 16301517 DOI: 10.1073/Pnas.0509062102 |
0.404 |
|
| 2005 |
Darroch PI, Dagan A, Granot T, He X, Gatt S, Schuchman EH. A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell death Journal of Lipid Research. 46: 2315-2324. PMID 16150832 DOI: 10.1194/Jlr.M500136-Jlr200 |
0.343 |
|
| 2005 |
Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ, Schuchman EH, Cheng SH. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. 12: 431-40. PMID 16099409 DOI: 10.1016/J.Ymthe.2005.03.011 |
0.423 |
|
| 2005 |
Bae JS, Furuya S, Shinoda Y, Endo S, Schuchman EH, Hirabayashi Y, Jin HK. Neurodegeneration augments the ability of bone marrow-derived mesenchymal stem cells to fuse with Purkinje neurons in Niemann-Pick type C mice. Human Gene Therapy. 16: 1006-11. PMID 16076258 DOI: 10.1089/Hum.2005.16.1006 |
0.301 |
|
| 2005 |
Takahashi I, Takahashi T, Mikami T, Komatsu M, Ohura T, Schuchman EH, Takada G. Acid sphingomyelinase: Relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity Tohoku Journal of Experimental Medicine. 206: 333-340. PMID 15997205 DOI: 10.1620/Tjem.206.333 |
0.364 |
|
| 2005 |
Passini MA, Macauley SL, Huff MR, Taksir TV, Bu J, Wu IH, Piepenhagen PA, Dodge JC, Shihabuddin LS, O'Riordan CR, Schuchman EH, Stewart GR. AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. 11: 754-62. PMID 15851014 DOI: 10.1016/J.Ymthe.2005.01.011 |
0.338 |
|
| 2005 |
He X, Dagan A, Gatt S, Schuchman EH. Simultaneous quantitative analysis of ceramide and sphingosine in mouse blood by naphthalene-2,3-dicarboxyaldehyde derivatization after hydrolysis with ceramidase Analytical Biochemistry. 340: 113-122. PMID 15802137 DOI: 10.1016/J.Ab.2005.01.058 |
0.341 |
|
| 2005 |
Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatric Research. 57: 701-7. PMID 15746260 DOI: 10.1203/01.Pdr.0000156510.96253.5A |
0.329 |
|
| 2005 |
Butler A, Henderson SC, Gordon RE, Dagan A, Gatt S, Schuchman EH. Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: 'Proof of principle' in acid sphingomyelinase-deficient mice Journal of Inherited Metabolic Disease. 28: 1-12. PMID 15702401 DOI: 10.1007/S10545-005-4418-7 |
0.341 |
|
| 2005 |
Ziegler RJ, Barbon CM, Bercury SD, Hawes ML, Schuchman EH, Desnick RJ, Cheng SH. 249. Minimal Dose of AAV8/DC190-ASM Necessary for Therapeutic Efficacy in a Mouse Model of Niemann-Pick Disease Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.06.252 |
0.353 |
|
| 2004 |
Hellani A, Schuchman EH, Al-Odaib A, Al Aqueel A, Jaroudi K, Ozand P, Coskun S. Preimplantation genetic diagnosis for Niemann-Pick disease type B Prenatal Diagnosis. 24: 943-948. PMID 15612058 DOI: 10.1002/Pd.1050 |
0.343 |
|
| 2004 |
Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study Pediatrics. 114. PMID 15545621 DOI: 10.1542/Peds.2004-0887 |
0.327 |
|
| 2004 |
Bae JS, Jang KH, Schuchman EH, Jin HK. Comparative effects of recombinant acid sphingomyelinase administration by different routes in Niemann-Pick disease mice Experimental Animals. 53: 417-421. PMID 15516789 DOI: 10.1538/Expanim.53.417 |
0.349 |
|
| 2004 |
McGovern MM, Pohl-Worgall T, Deckelbaum RJ, Simpson W, Mendelson D, Desnick RJ, Schuchman EH, Wasserstein MP. Lipid abnormalities in children with types A and B Niemann Pick disease. The Journal of Pediatrics. 145: 77-81. PMID 15238911 DOI: 10.1016/J.Jpeds.2004.02.048 |
0.323 |
|
| 2004 |
McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B Ophthalmology. 111: 1424-1427. PMID 15234149 DOI: 10.1016/J.Ophtha.2003.10.034 |
0.318 |
|
| 2004 |
Zhu Y, Li X, Schuchman EH, Desnick RJ, Cheng SH. Dexamethasone-Mediated Up-Regulation of the Mannose Receptor Improves the Delivery of Recombinant Glucocerebrosidase to Gaucher Macrophages Journal of Pharmacology and Experimental Therapeutics. 308: 705-711. PMID 14610228 DOI: 10.1124/Jpet.103.060236 |
0.322 |
|
| 2004 |
Dhami R, Schuchman EH. Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: Implications for Niemann-Pick disease enzyme replacement therapy Journal of Biological Chemistry. 279: 1526-1532. PMID 14557264 DOI: 10.1074/Jbc.M309465200 |
0.388 |
|
| 2004 |
Barbon CM, Ziegler RJ, Bercury SD, Cherry M, Li C, Schuchman E, Desnick RJ, Lukason MJ, Lonning S, Cheng SH. 853. Efficacy of AAV-Mediated Expression of Acid Sphingomyelinase at Correcting the Visceral and Pulmonary Manifestations of Niemann-Pick B Disease Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.761 |
0.407 |
|
| 2003 |
Jin HK, Schuchman EH. Ex vivo gene therapy using bone marrow-derived cells: Combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease Molecular Therapy. 8: 876-885. PMID 14664789 DOI: 10.1016/J.Ymthe.2003.07.008 |
0.385 |
|
| 2003 |
He X, Okino N, Dhami R, Dagan A, Gatt S, Schulze H, Sandhoff K, Schuchman EH. Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase. The Journal of Biological Chemistry. 278: 32978-86. PMID 12815059 DOI: 10.1074/Jbc.M301936200 |
0.386 |
|
| 2003 |
Okino N, He X, Gatt S, Sandhoff K, Ito M, Schuchman EH. The reverse activity of human acid ceramidase. The Journal of Biological Chemistry. 278: 29948-53. PMID 12764132 DOI: 10.1074/Jbc.M303310200 |
0.372 |
|
| 2003 |
He X, Chen F, Dagan A, Gatt S, Schuchman EH. A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease Analytical Biochemistry. 314: 116-120. PMID 12633609 DOI: 10.1016/S0003-2697(02)00629-2 |
0.317 |
|
| 2003 |
Ikegami M, Dhami R, Schuchman EH. Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease American Journal of Physiology - Lung Cellular and Molecular Physiology. 284. PMID 12495943 DOI: 10.1152/Ajplung.00258.2002 |
0.353 |
|
| 2003 |
Desnick RJ, Schuchman EH. Correction: Enzyme replacement and enhancement therapies: lessons from lysosomal disorders Nature Reviews Genetics. 4: 157-157. DOI: 10.1038/Nrg1016 |
0.367 |
|
| 2002 |
Desnick RJ, Schuchman EH. Enzyme replacement and enhancement therapies: Lessons from lysosomal disorders Nature Reviews Genetics. 3: 954-966. PMID 12459725 DOI: 10.1038/Nrg963 |
0.325 |
|
| 2002 |
Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations American Journal of Human Genetics. 71: 1413-1419. PMID 12369017 DOI: 10.1086/345074 |
0.304 |
|
| 2002 |
Butler A, He X, Gordon RE, Wu HS, Gatt S, Schuchman EH. Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice American Journal of Pathology. 161: 1061-1075. PMID 12213735 DOI: 10.1016/S0002-9440(10)64267-8 |
0.35 |
|
| 2002 |
He X, Chen F, McGovern MM, Schuchman EH. A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism Analytical Biochemistry. 306: 115-123. PMID 12069422 DOI: 10.1006/Abio.2002.5686 |
0.349 |
|
| 2002 |
Jin HK, Carter JE, Huntley GW, Schuchman EH. Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. The Journal of Clinical Investigation. 109: 1183-91. PMID 11994407 DOI: 10.1172/Jci14862 |
0.334 |
|
| 2002 |
Li CM, Park JH, Simonaro CM, He X, Gordon RE, Friedman AH, Ehleiter D, Paris F, Manova K, Hepbildikler S, Fuks Z, Sandhoff K, Kolesnick R, Schuchman EH, Hepbiloikler S. Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. Genomics. 79: 218-24. PMID 11829492 DOI: 10.1006/Geno.2002.6686 |
0.641 |
|
| 2001 |
Simonaro CM, Haskins ME, Schuchman EH. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: A possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses Laboratory Investigation. 81: 1319-1328. PMID 11555679 DOI: 10.1038/Labinvest.3780345 |
0.352 |
|
| 2001 |
Dhami R, He X, Gordon RE, Schuchman EH. Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase-deficient mouse model of Niemann-Pick disease Laboratory Investigation. 81: 987-999. PMID 11454988 DOI: 10.1038/Labinvest.3780311 |
0.365 |
|
| 2001 |
Ferlinz K, Kopal G, Bernardo K, Linke T, Bär J, Breiden B, Neumann U, Lang F, Schuchman EH, Sandhoff K. Human acid ceramidase: Processing, glycosylation, and lysosomal targeting Journal of Biological Chemistry. 276: 35352-35360. PMID 11451951 DOI: 10.1074/Jbc.M103066200 |
0.375 |
|
| 2001 |
Sarna J, Miranda SRP, Schuchman EH, Hawkes R. Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease European Journal of Neuroscience. 13: 1873-1880. PMID 11403680 DOI: 10.1046/J.0953-816X.2001.01564.X |
0.365 |
|
| 2001 |
He X, Chen F, Gatt S, Schuchman EH. An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease Analytical Biochemistry. 293: 204-211. PMID 11399033 DOI: 10.1006/Abio.2001.5108 |
0.363 |
|
| 2001 |
Carter JE, Schuchman EH. Gene therapy for neurodegenerative diseases: fact or fiction? The British Journal of Psychiatry : the Journal of Mental Science. 178: 392-4. PMID 11331549 DOI: 10.1192/Bjp.178.5.392 |
0.315 |
|
| 2001 |
Lozano J, Morales A, Cremesti A, Fuks Z, Tilly JL, Schuchman E, Gulbins E, Kolesnick R. Niemann-Pick Disease versus acid sphingomyelinase deficiency [1] Cell Death and Differentiation. 8: 100-102. PMID 11313707 DOI: 10.1038/Sj.Cdd.4400775 |
0.379 |
|
| 2001 |
Kakkis ED, Schuchman E, He X, Wan Q, Kania S, Wiemelt S, Hasson CW, O'Malley T, Weil MA, Aguirre GA, Brown DE, Haskins ME. Enzyme replacement therapy in feline mucopolysaccharidosis I Molecular Genetics and Metabolism. 72: 199-208. PMID 11243725 DOI: 10.1006/Mgme.2000.3140 |
0.326 |
|
| 2001 |
Bär J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K. Molecular analysis of acid ceramidase deficiency in patients with Farber disease Human Mutation. 17: 199-209. PMID 11241842 DOI: 10.1002/Humu.5 |
0.388 |
|
| 2001 |
Linke T, Wilkening G, Sadeghlar F, Mozcall H, Bernardo K, Schuchman E, Sandhoff K. Interfacial Regulation of Acid Ceramidase Activity: Stimulation of ceramide degradation by lysosomal lipids and sphingolipid activator proteins Journal of Biological Chemistry. 276: 5760-5768. PMID 11104761 DOI: 10.1074/Jbc.M006846200 |
0.328 |
|
| 2001 |
Simonaro C, Haskins M, Schuchman E. Enhanced chondrocyte apoptosis leads to abnormal cartilage in rats and cats with glycosaminoglycan storage diseases Arthritis Research & Therapy. 3: 15. DOI: 10.1186/Ar340 |
0.357 |
|
| 2000 |
Yu ZF, Nikolova-Karakashian M, Zhou D, Cheng G, Schuchman EH, Mattson MP. Pivotal role for acidic sphingomyelinase in cerebral ischemia-induced ceramide and cytokine production, and neuronal apoptosis Journal of Molecular Neuroscience. 15: 85-97. PMID 11220788 DOI: 10.1385/Jmn:15:2:85 |
0.301 |
|
| 2000 |
Miranda SRP, Erlich S, Friedrich VL, Gatt S, Schuchman EH. Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease Gene Therapy. 7: 1768-1776. PMID 11083499 DOI: 10.1038/Sj.Gt.3301300 |
0.389 |
|
| 2000 |
Schuchman EH, Erlich S, Miranda SRP, Dinur T, Dagan A, Gatt S. Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression Methods in Enzymology. 312: 330-338. PMID 11070882 DOI: 10.1016/S0076-6879(00)12919-2 |
0.303 |
|
| 2000 |
Miranda SRP, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, Schuchman EH. Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology Faseb Journal. 14: 1988-1995. PMID 11023983 DOI: 10.1096/Fj.00-0014Com |
0.372 |
|
| 2000 |
Morita Y, Perez GI, Paris F, Miranda SR, Ehleiter D, Haimovitz-Friedman A, Fuks Z, Xie Z, Reed JC, Schuchman EH, Kolesnick RN, Tilly JL. Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy Nature Medicine. 6: 1109-1114. PMID 11017141 DOI: 10.1038/80442 |
0.334 |
|
| 2000 |
Marathe S, Miranda SR, Devlin C, Johns A, Kuriakose G, Williams KJ, Schuchman EH, Tabas I. Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function. Human Molecular Genetics. 9: 1967-76. PMID 10942425 DOI: 10.1093/Hmg/9.13.1967 |
0.377 |
|
| 2000 |
Lin T, Genestier L, Pinkoski MJ, Castro A, Nicholas S, Mogil R, Paris F, Fuks Z, Schuchman EH, Kolesnick RN, Green DR. Role of acidic sphingomyelinase in Fas/CD95-mediated cell death Journal of Biological Chemistry. 275: 8657-8663. PMID 10722706 DOI: 10.1074/Jbc.275.12.8657 |
0.332 |
|
| 2000 |
Lin T, Genestier L, Castro A, Nicholas S, Pinkoski M, Rona M, Paris F, Fuks Z, Schuchman EH, Kolesnick RN, Green DR. Acidic sphingomyelinase is involved in Fas-mediated cell death of the hepatocytes but not lymphocytes. Evidence for acidc sphingomyelinase dependent and independent pathways Gastroenterology. 118: A962. DOI: 10.1016/S0016-5085(00)85992-2 |
0.323 |
|
| 1999 |
Schuchman EH. Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases Chemistry and Physics of Lipids. 102: 179-188. PMID 11001572 DOI: 10.1016/S0009-3084(99)00086-9 |
0.372 |
|
| 1999 |
Hong SB, Li CM, Rhee HJ, Park JH, He X, Levy B, Yoo OJ, Schuchman EH. Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein. Genomics. 62: 232-41. PMID 10610717 DOI: 10.1006/Geno.1999.5953 |
0.592 |
|
| 1999 |
Li CM, Park JH, He X, Levy B, Chen F, Arai K, Adler DA, Disteche CM, Koch J, Sandhoff K, Schuchman EH. The human acid ceramidase gene (ASAH): Structure, chromosomal location, mutation analysis, and expression Genomics. 62: 223-231. PMID 10610716 DOI: 10.1006/Geno.1999.5940 |
0.614 |
|
| 1999 |
He X, Li CM, Park JH, Dagan A, Gatt S, Schuchman EH. A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activity Analytical Biochemistry. 274: 264-269. PMID 10527524 DOI: 10.1006/Abio.1999.4284 |
0.613 |
|
| 1999 |
He X, Miranda SRP, Xiong X, Dagan A, Gatt S, Schuchman EH. Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells Biochimica Et Biophysica Acta - Protein Structure and Molecular Enzymology. 1432: 251-264. PMID 10407147 DOI: 10.1016/S0167-4838(99)00069-2 |
0.387 |
|
| 1999 |
He X, Li CM, Simonaro CM, Wan Q, Haskins ME, Desnick RJ, Schuchman EH. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats Molecular Genetics and Metabolism. 67: 106-112. PMID 10356309 DOI: 10.1006/Mgme.1999.2860 |
0.359 |
|
| 1999 |
Simonaro CM, Haskins ME, Abkowitz JL, Brooks DA, Hopwood JJ, Zhang J, Schuchman EH. Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation. Gene Therapy. 6: 107-13. PMID 10341882 DOI: 10.1038/Sj.Gt.3300797 |
0.319 |
|
| 1999 |
Erlich S, Miranda SR, Visser JW, Dagan A, Gatt S, Schuchman EH. Fluorescence-Based Selection of Gene-Corrected Hematopoietic Stem and Progenitor Cells From Acid Sphingomyelinase-Deficient Mice: Implications for Niemann-Pick Disease Gene Therapy and the Development of Improved Stem Cell Gene Transfer Procedures Blood. 93: 80-86. DOI: 10.1182/Blood.V93.1.80.401K28_80_86 |
0.328 |
|
| 1998 |
Desnick RJ, Schuchman EH. Gene therapy for genetic diseases Acta Paediatrica Japonica (Overseas Edition). 40: 191-203. PMID 9695290 DOI: 10.1111/J.1442-200X.1998.Tb01912.X |
0.325 |
|
| 1998 |
Schissel SL, Keesler GA, Schuchman EH, Williams KJ, Tabas I. The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase gene Journal of Biological Chemistry. 273: 18250-18259. PMID 9660788 DOI: 10.1074/Jbc.273.29.18250 |
0.334 |
|
| 1998 |
Li CM, Hong SB, Kopal G, He X, Linke T, Hou WS, Koch J, Gatt S, Sandhoff K, Schuchman EH. Cloning and characterization of the full-length cDNA and genomic sequences encoding murine acid ceramidase Genomics. 50: 267-274. PMID 9653654 DOI: 10.1006/Geno.1998.5334 |
0.336 |
|
| 1998 |
Miranda SRP, Erlich S, Friedrich VL, Haskins ME, Gatt S, Schuchman EH. Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice Transplantation. 65: 884-892. PMID 9565090 DOI: 10.1097/00007890-199804150-00005 |
0.361 |
|
| 1998 |
De Maria R, Rippo MR, Schuchman EH, Testi R. Acidic sphingomyelinase (ASM) is necessary for fas-induced GD3 ganglioside accumulation and efficient apoptosis of lymphoid cells Journal of Experimental Medicine. 187: 897-902. PMID 9500792 DOI: 10.1084/Jem.187.6.897 |
0.337 |
|
| 1998 |
McGovern MM, Wozniak S, Desnick RJ, Schuchman EH. Genotype-Phenotype Correlations in Type B Niemann-Pick Disease |[bull]| 725 Pediatric Research. 43: 126-126. DOI: 10.1203/00006450-199804001-00746 |
0.335 |
|
| 1997 |
Schuchman EH, Miranda SRP. Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing Genetic Testing. 1: 13-19. PMID 10464620 DOI: 10.1089/Gte.1997.1.13 |
0.304 |
|
| 1997 |
Simonaro CM, Haskins ME, Kunieda T, Evans SM, Visser JWM, Schuchman EH. Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: Biochemical, pathological, and clinical findings Transplantation. 63: 1386-1393. PMID 9175798 DOI: 10.1097/00007890-199705270-00003 |
0.309 |
|
| 1997 |
Miranda SR, Erlich S, Visser JW, Gatt S, Dagan A, Friedrich VL, Schuchman EH. Bone Marrow Transplantation in Acid Sphingomyelinase-Deficient Mice: Engraftment and Cell Migration Into the Brain as a Function of Radiation, Age, and Phenotype Blood. 90: 444-452. DOI: 10.1182/Blood.V90.1.444.444_444_452 |
0.34 |
|
| 1996 |
Koch J, Gärtner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase: Identification of the first molecular lesion causing farber disease Journal of Biological Chemistry. 271: 33110-33115. PMID 8955159 DOI: 10.1074/Jbc.271.51.33110 |
0.396 |
|
| 1996 |
Fillat C, Simonaro CM, Yeyati PL, Abkowitz JL, Haskins ME, Schuchman EH. Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy Journal of Clinical Investigation. 98: 497-502. PMID 8755662 DOI: 10.1172/Jci118817 |
0.371 |
|
| 1996 |
Santana P, Peña LA, Haimovitz-Friedman A, Martin S, Green D, McLoughlin M, Cordon-Cardo C, Schuchman EH, Fuks Z, Kolesnick R. Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis Cell. 86: 189-199. PMID 8706124 DOI: 10.1016/S0092-8674(00)80091-4 |
0.352 |
|
| 1996 |
Schissel SL, Schuchman EH, Williams KJ, Tabas I. Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene Journal of Biological Chemistry. 271: 18431-18436. PMID 8702487 DOI: 10.1074/Jbc.271.31.18431 |
0.386 |
|
| 1995 |
Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G. Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease The Tohoku Journal of Experimental Medicine. 177: 117-123. PMID 8693491 DOI: 10.1620/Tjem.177.117 |
0.38 |
|
| 1995 |
Schuchman EH. Two new mutations in the acid sphingomyelinase gene causing type A Niemann-Pick disease: N389T and R441X Human Mutation. 6: 352-354. PMID 8680412 DOI: 10.1002/Humu.1380060412 |
0.367 |
|
| 1995 |
Simonaro CM, Schuchman EH. N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI Bba - Molecular Basis of Disease. 1272: 129-132. PMID 8541342 DOI: 10.1016/0925-4439(95)00070-4 |
0.322 |
|
| 1995 |
Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K. Purification, characterization, and biosynthesis of human acid ceramidase Journal of Biological Chemistry. 270: 11098-11102. PMID 7744740 DOI: 10.1074/Jbc.270.19.11098 |
0.339 |
|
| 1995 |
Wan Q, Schuchman EH. A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region Bba - Molecular Basis of Disease. 1270: 207-210. PMID 7727545 DOI: 10.1016/0925-4439(95)00050-E |
0.343 |
|
| 1995 |
Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nature Genetics. 10: 288-93. PMID 7670466 DOI: 10.1038/Ng0795-288 |
0.418 |
|
| 1995 |
Yeyati PL, Agmon V, Fillat C, Dinur T, Dagan A, Desnick RJ, Gatt S, Schuchman EH. Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: Direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction Human Gene Therapy. 6: 975-983. PMID 7578419 DOI: 10.1089/Hum.1995.6.8-975 |
0.373 |
|
| 1995 |
Schuchman EH, Ioannou YA, Rattazzi MC, Desnick RJ. Neural gene therapy for inherited diseases with mental retardation: Principles and prospects Mental Retardation and Developmental Disabilities Research Reviews. 1: 39-48. DOI: 10.1002/Mrdd.1410010109 |
0.333 |
|
| 1993 |
Levran O, Desnick RJ, Schuchman EH. Identification of a 3′ acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with niemann - pick disease Human Molecular Genetics. 2: 205-206. PMID 8499909 DOI: 10.1093/Hmg/2.2.205 |
0.354 |
|
| 1993 |
Levran O, Desnick RJ, Schuchman EH. Type a niemann-pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients Human Mutation. 2: 317-319. PMID 8401540 DOI: 10.1002/Humu.1380020414 |
0.371 |
|
| 1992 |
Schuchman EH, Levran O, Pereira LV, Desnick RJ. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) Genomics. 12: 197-205. PMID 1740330 DOI: 10.1016/0888-7543(92)90366-Z |
0.323 |
|
| 1992 |
Suchi M, Dinur T, Desnick RJ, Gatt S, Pereira L, Gilboa E, Schuchman EH. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: Correction of the metabolic defect in cultured Niemann-Pick disease cells Proceedings of the National Academy of Sciences of the United States of America. 89: 3227-3231. PMID 1565614 DOI: 10.1073/Pnas.89.8.3227 |
0.375 |
|
| 1992 |
Dinur T, Schuchman EH, Fibach F, Dagan A, Suchi M, Desnick RJ, Gatt S. Toward gene therapy for niemann-pick disease (NPD): Separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin Human Gene Therapy. 3: 633-639. PMID 1482703 DOI: 10.1089/Hum.1992.3.6-633 |
0.384 |
|
| 1992 |
Jackson CE, Yuhki N, Desnick RJ, Haskins ME, O'Brien SJ, Schuchman EH. Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1. Genomics. 14: 403-11. PMID 1427856 DOI: 10.1016/S0888-7543(05)80233-2 |
0.364 |
|
| 1992 |
Takahashi T, Desnick RJ, Takada G, Schuchman EH. Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with Type B Niemann - Pick disease Human Mutation. 1: 70-71. PMID 1301192 DOI: 10.1002/Humu.1380010111 |
0.368 |
|
| 1992 |
Levran O, Desnick R, Schuchman E. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood. 80: 2081-2087. DOI: 10.1182/Blood.V80.8.2081.2081 |
0.357 |
|
| 1991 |
Levran O, Desnick RJ, Schuchman EH. Niemann-Pick disease: A frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients Proceedings of the National Academy of Sciences of the United States of America. 88: 3748-3752. PMID 2023926 DOI: 10.1073/Pnas.88.9.3748 |
0.363 |
|
| 1991 |
da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1→p15.4 Genomics. 9: 229-234. PMID 2004772 DOI: 10.1016/0888-7543(91)90246-B |
0.306 |
|
| 1991 |
Levran O, Desnick RJ, Schuchman EH. Niemann-Pick type B disease: Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in Type A and B patients Journal of Clinical Investigation. 88: 806-810. PMID 1885770 DOI: 10.1172/Jci115380 |
0.372 |
|
| 1991 |
Schuchman EH, Levran O, Suchi M, Desnick RJ. An Mspl polymorphism in the human acid sphingomyelinase gene (SMPD1) Nucleic Acids Research. 19: 3160. PMID 1711683 DOI: 10.1093/Nar/19.11.3160 |
0.314 |
|
| 1990 |
Stramm LE, Wolfe JH, Schuchman EH, Haskins ME, Patterson DF, Aguirre GD. β-Glucuronidase mediated pathway essential for retinal pigment epithelial degradation of glycosaminoglycans. Disease expression and in vitro disease correction using retroviral mediated cDNA transfer Experimental Eye Research. 50: 521-532. PMID 2164946 DOI: 10.1016/0014-4835(90)90041-R |
0.346 |
|
| 1990 |
Wolfe JH, Schuchman EH, Stramm LE, Concaugh EA, Haskins ME, Aguirre GD, Patterson DF, Desnick RJ, Gilboa E. Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer Proceedings of the National Academy of Sciences of the United States of America. 87: 2877-2881. PMID 2158095 DOI: 10.1073/Pnas.87.8.2877 |
0.329 |
|
| 1990 |
Schuchman EH, Jackson CE, Desnick RJ. Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C. Genomics. 6: 149-58. PMID 1968043 DOI: 10.1016/0888-7543(90)90460-C |
0.317 |
|
| 1989 |
Quintern L, Schuchman E, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick R. Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. The Embo Journal. 8: 2469-2473. DOI: 10.1002/J.1460-2075.1989.Tb08382.X |
0.302 |
|
| 1982 |
Vine DT, McGovern MM, Schuchman EH, Haskins ME, Desnick RJ. Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association Journal of Clinical Investigation. 69: 294-302. PMID 6799547 DOI: 10.1172/Jci110452 |
0.325 |
|
| Show low-probability matches. |