Edward H. Schuchman - Publications

Affiliations: 
Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Area:
Genetics, Obstetrics and Gynecology, Pathology, Molecular Biology, Animal Physiology Biology

189 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Lee JY, Han SH, Park MH, Song IS, Choi MK, Yu E, Park CM, Kim HJ, Kim SH, Schuchman EH, Jin HK, Bae JS. N-AS-triggered SPMs are direct regulators of microglia in a model of Alzheimer's disease. Nature Communications. 11: 2358. PMID 32398649 DOI: 10.1038/s41467-020-16080-4  0.64
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  0.52
2019 Park MH, Choi BJ, Jeong MS, Lee JY, Jung IK, Park KH, Lee HW, Yamaguchi T, Marti HH, Lee BH, Schuchman EH, Jin HK, Bae JS. Characterization of the Subventricular-Thalamo-Cortical Circuit in the NP-C Mouse Brain, and New Insights Regarding Treatment. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 31138511 DOI: 10.1016/j.ymthe.2019.05.008  0.64
2018 Plöhn S, Edelmann B, Japtok L, He X, Hose M, Hansen W, Schuchman EH, Eckstein A, Berchner-Pfannschmidt U. CD40 Enhances Sphingolipids in Orbital Fibroblasts: Potential Role of Sphingosine-1-Phosphate in Inflammatory T-Cell Migration in Graves' Orbitopathy. Investigative Ophthalmology & Visual Science. 59: 5391-5397. PMID 30452592 DOI: 10.1167/iovs.18-25466  0.52
2018 Park MH, Lee JY, Park KH, Jung IK, Kim KT, Lee YS, Ryu HH, Jeong Y, Kang M, Schwaninger M, Gulbins E, Reichel M, Kornhuber J, Yamaguchi T, Kim HJ, ... ... Schuchman EH, et al. Vascular and Neurogenic Rejuvenation in Aging Mice by Modulation of ASM. Neuron. 100: 762. PMID 30408445 DOI: 10.1016/j.neuron.2018.10.038  0.64
2018 Park MH, Lee JY, Park KH, Jung IK, Kim KT, Lee YS, Ryu HH, Jeong Y, Kang M, Schwaninger M, Gulbins E, Reichel M, Kornhuber J, Yamaguchi T, Kim HJ, ... ... Schuchman EH, et al. Vascular and Neurogenic Rejuvenation in Aging Mice by Modulation of ASM. Neuron. PMID 30269989 DOI: 10.1016/j.neuron.2018.09.010  0.64
2018 Lee JY, Han SH, Park MH, Baek B, Song IS, Choi MK, Takuwa Y, Ryu H, Kim SH, He X, Schuchman EH, Bae JS, Jin HK. Neuronal SphK1 acetylates COX2 and contributes to pathogenesis in a model of Alzheimer's Disease. Nature Communications. 9: 1479. PMID 29662056 DOI: 10.1038/s41467-018-03674-2  0.64
2018 He X, Schuchman EH. Ceramide and Ischemia/Reperfusion Injury. Journal of Lipids. 2018: 3646725. PMID 29610685 DOI: 10.1155/2018/3646725  0.52
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  0.52
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  0.52
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  0.52
2016 Park MH, Lee JK, Kim N, Min WK, Lee JE, Kim KT, Akiyama H, Herzog H, Schuchman EH, Jin HK, Bae JS. Neuropeptide Y induces hematopoietic stem/progenitor cell mobilization by regulating matrix metalloproteinase-9 activity through Y1 receptor in osteoblasts. Stem Cells (Dayton, Ohio). PMID 27090492 DOI: 10.1002/stem.2383  0.64
2016 Simonaro CM, Tomatsu S, Sikora T, Kubaski F, Frohbergh M, Guevara JM, Wang RY, Vera M, Kang JL, Smith LJ, Schuchman EH, Haskins ME. Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs. Plos One. 11: e0153136. PMID 27064989 DOI: 10.1371/journal.pone.0153136  0.92
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  0.92
2016 Schuchman EH. Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy Biochimica Et Biophysica Acta - Molecular Basis of Disease. 1862: 1459-1471. DOI: 10.1016/j.bbadis.2016.05.001  0.92
2015 Frohbergh ME, Guevara JM, Grelsamer RP, Barbe MF, He X, Simonaro CM, Schuchman EH. Acid Ceramidase Treatment Enhances the Outcome of Autologous Chondrocyte Implantation in a Rat Osteochondral Defect Model. Osteoarthritis and Cartilage / Oars, Osteoarthritis Research Society. PMID 26524412 DOI: 10.1016/j.joca.2015.10.016  0.92
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  0.52
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  0.92
2015 Park MH, Jin HK, Min WK, Lee WW, Lee JE, Akiyama H, Herzog H, Enikolopov GN, Schuchman EH, Bae JS. Neuropeptide Y regulates the hematopoietic stem cell microenvironment and prevents nerve injury in the bone marrow. The Embo Journal. 34: 1648-60. PMID 25916827 DOI: 10.15252/embj.201490174  0.92
2015 Yu J, Pan W, Shi R, Yang T, Li Y, Yu G, Bai Y, Schuchman EH, He X, Zhang G. Ceramide is upregulated and associated with mortality in patients with chronic heart failure. The Canadian Journal of Cardiology. 31: 357-63. PMID 25746025 DOI: 10.1016/j.cjca.2014.12.007  0.92
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  0.92
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  0.92
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  0.92
2014 Frohbergh M, Ge Y, Meng F, Karabul N, Solyom A, Lai A, Iatridis J, Schuchman EH, Simonaro CM. Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. Plos One. 9: e100882. PMID 24964042 DOI: 10.1371/journal.pone.0100882  0.92
2014 Lee H, Lee JK, Bae YC, Yang SH, Okino N, Schuchman EH, Yamashita T, Bae JS, Jin HK. Inhibition of GM3 synthase attenuates neuropathology of Niemann-Pick disease Type C. by affecting sphingolipid metabolism. Molecules and Cells. 37: 161-71. PMID 24599001 DOI: 10.14348/molcells.2014.2347  0.92
2014 Pan W, Yu J, Shi R, Yan L, Yang T, Li Y, Zhang Z, Yu G, Bai Y, Schuchman EH, He X, Zhang G. Elevation of ceramide and activation of secretory acid sphingomyelinase in patients with acute coronary syndromes. Coronary Artery Disease. 25: 230-5. PMID 24589572 DOI: 10.1097/MCA.0000000000000079  0.92
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  0.92
2014 Desnick RJ, Schuchman EH, Astrin KH, Cheng SH. Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease Reference Module in Biomedical Research. DOI: 10.1016/B978-0-12-801238-3.05501-X  0.92
2014 Schuchman EH, Desnick RJ. The Niemann-Pick Diseases Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. 313-320. DOI: 10.1016/B978-0-12-410529-4.00027-9  0.92
2013 Kim BJ, Lee JK, Schuchman EH, Jin HK, Bae JS. Synergistic vasculogenic effects of AMD3100 and stromal-cell-derived factor-1α in vasa nervorum of the sciatic nerve of mice with diabetic peripheral neuropathy Cell and Tissue Research. 354: 395-407. PMID 23942895 DOI: 10.1007/s00441-013-1689-4  0.92
2013 Savić R, He X, Fiel I, Schuchman EH. Recombinant Human Acid Sphingomyelinase as an Adjuvant to Sorafenib Treatment of Experimental Liver Cancer Plos One. 8. PMID 23724146 DOI: 10.1371/journal.pone.0065620  0.92
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  0.92
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  0.92
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  0.92
2013 Papademetriou IT, Garnacho C, Schuchman EH, Muro S. In vivo performance of polymer nanocarriers dually-targeted to epitopes of the same or different receptors Biomaterials. 34: 3459-3466. PMID 23398883 DOI: 10.1016/j.biomaterials.2013.01.069  0.92
2013 Schuchman EH, Ge Y, Lai A, Borisov Y, Faillace M, Eliyahu E, He X, Iatridis J, Vlassara H, Striker G, Simonaro CM. Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses Plos One. 8. PMID 23365668 DOI: 10.1371/journal.pone.0054459  0.92
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  0.92
2013 Lai A, Simonaro CM, Schuchman EH, Ge Y, Laudier DM, Iatridis JC. Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society. 31: 621-31. PMID 23192728 DOI: 10.1002/jor.22281  0.92
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  0.92
2013 Desnick RJ, Schuchman EH, Astrin KH, Cheng SH. Therapies for Lysosomal Storage Diseases Emery and Rimoin's Principles and Practice of Medical Genetics. 1-30. DOI: 10.1016/B978-0-12-383834-6.00036-7  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
2011 Eliyahu E, Wolfson T, Ge Y, Jepsen KJ, Schuchman EH, Simonaro CM. Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. Plos One. 6: e22447. PMID 21887218 DOI: 10.1371/journal.pone.0022447  0.92
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  0.92
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  0.92
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  0.92
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: 10.1007/s11064-010-0380-3  0.92
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  0.92
2010 Tam C, Idone V, Devlin C, Fernandes MC, Flannery A, He X, Schuchman E, Tabas I, Andrews NW. Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair. The Journal of Cell Biology. 189: 1027-38. PMID 20530211 DOI: 10.1083/jcb.201003053  0.92
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  0.92
2010 Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH. Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease Molecular Medicine. 16: 316-321. PMID 20386867 DOI: 10.2119/molmed.2010.00017  0.92
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  0.92
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  0.92
2010 Lee JK, Jin HK, Endo S, Schuchman EH, Carter JE, Bae JS. Intracerebral transplantation of bone marrow-derived mesenchymal stem cells reduces amyloid-beta deposition and rescues memory deficits in Alzheimer's disease mice by modulation of immune responses Stem Cells. 28: 329-343. PMID 20014009 DOI: 10.1002/stem.277  0.92
2010 Eliyahu E, Shtraizent N, Martinuzzi K, Barritt J, He X, Wei H, Chaubal S, Copperman AB, Schuchman EH. Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilization Faseb Journal. 24: 1229-1238. PMID 20007509 DOI: 10.1096/fj.09-145508  0.92
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  0.92
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  0.92
2009 Xie XY, Chen ZX, Lei MX, He X, Schuchman EH, Liu F, Xu HS, Lin AH. Ceramide mediates inhibition of the AKT/eNOS signaling pathway by palmitate in human vascular endothelial cells Medical Science Monitor. 15. PMID 19721393  0.92
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  0.92
2009 He X, Huang CL, Schuchman EH. Quantitative analysis of sphingosine-1-phosphate by HPLC after napthalene-2,3-dicarboxaldehyde (NDA) derivatization Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 877: 983-990. PMID 19285924 DOI: 10.1016/j.jchromb.2009.02.048  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
2008 Muro S, Garnacho C, Champion JA, Leferovich J, Gajewski C, Schuchman EH, Mitragotri S, Muzykantov VR. Control of endothelial targeting and intracellular delivery of therapeutic enzymes by modulating the size and shape of ICAM-1-targeted carriers. Molecular Therapy : the Journal of the American Society of Gene Therapy. 16: 1450-8. PMID 18560419 DOI: 10.1038/mt.2008.127  0.92
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  0.92
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  0.92
2008 Medler TR, Petrusca DN, Lee PJ, Hubbard WC, Berdyshev EV, Skirball J, Kamocki K, Schuchman E, Tuder RM, Petrache I. Apoptotic sphingolipid signaling by ceramides in lung endothelial cells. American Journal of Respiratory Cell and Molecular Biology. 38: 639-46. PMID 18192502 DOI: 10.1165/rcmb.2007-0274OC  0.92
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  0.92
2008 Ledgerwood LG, Lal G, Zhang N, Garin A, Esses SJ, Ginhoux F, Merad M, Peche H, Lira SA, Ding Y, Yang Y, He X, Schuchman EH, Allende ML, Ochando JC, et al. The sphingosine 1-phosphate receptor 1 causes tissue retention by inhibiting the entry of peripheral tissue T lymphocytes into afferent lymphatics. Nature Immunology. 9: 42-53. PMID 18037890 DOI: 10.1038/ni1534  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
2003 Victor S, Coulter JBS, Besley GTN, Ellis I, Desnick RJ, Schuchman EH, Vellodi A. Niemann-Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant Journal of Inherited Metabolic Disease. 26: 775-785. PMID 14739682 DOI: 10.1023/B:BOLI.0000009950.81514.c8  0.92
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  0.92
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  0.92
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  0.92
2003 Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM. Growth restriction in children with type B Niemann-Pick disease. The Journal of Pediatrics. 142: 424-8. PMID 12712061 DOI: 10.1067/mpd.2003.113  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1998 Manthey CL, Schuchman EH. Acid sphingomyelinase-derived ceramide is not required for inflammatory cytokine signalling in murine macrophages Cytokine. 10: 654-661. PMID 9770326 DOI: 10.1006/cyto.1998.0344  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1997 Haimovitz-Friedman A, Cordon-Cardo C, Bayoumy S, Garzotto M, McLoughlin M, Gallily R, Edwards CK, Schuchman EH, Fuks Z, Kolesnick R. Lipopolysaccharide induces disseminated endothelial apoptosis requiring ceramide generation Journal of Experimental Medicine. 186: 1831-1841. PMID 9382882 DOI: 10.1084/jem.186.11.1831  0.92
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  0.92
1997 Ferlinz K, Hurwitz R, Moczall H, Lansmann S, Schuchman EH, Sandhoff K. Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis European Journal of Biochemistry. 243: 511-517. PMID 9030779 DOI: 10.1111/j.1432-1033.1997.511_1a.x  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1995 KUNIEDA T, SIMONARO CM, YOSHIDA M, IKADAI H, LEVAN G, DESNICK RJ, SCHUCHMAN EH. Mucopolysaccharidosis Type VI in Rats: Isolation of cDNAs Encoding Arylsulfatase B, Chromosomal Localization of the Gene, and Identification of the Mutation Genomics. 29: 582-587. PMID 8575749 DOI: 10.1006/geno.1995.9962  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1993 Horinouchi K, Sakiyama T, Pereira L, Lalley PA, Schuchman EH. Mouse models of Niemann-Pick disease: Mutation analysis and chromosomal mapping rule out the type A and B forms Genomics. 18: 450-451. PMID 8288255 DOI: 10.1006/geno.1993.1497  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1991 Jin WD, Desnick RJ, Schuchman EH. A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14 Nucleic Acids Research. 19: 4305. PMID 1870990 DOI: 10.1093/nar/19.15.4305-a  0.92
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  0.92
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  0.92
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  0.92
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  0.92
1989 Schuchman EH, O'Brien SJ, Desnick RJ. Assignment of the feline α-l-iduronidase gene to chromosome D4 Genomics. 4: 442-444. PMID 2714802 DOI: 10.1016/0888-7543(89)90354-6  0.92
1989 Schuchman EH, Toroyan TK, Haskins ME, Desnick RJ. Characterization of the defective β-glucuronidase activity in canine mucopolysaccharidosis type VII Enzyme. 42: 174-180. PMID 2515056 DOI: 10.1159/000469027  0.92
1988 Schuchman EH, Desnick RJ. Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual α-L-iduronidase activities Journal of Clinical Investigation. 81: 98-105. PMID 3121676 DOI: 10.1172/JCI113317  0.92
1984 Schuchman EH, Astrin KH, Aula P, Desnick RJ. Regional assignment of the structural gene for human α-L-iduronidase Proceedings of the National Academy of Sciences of the United States of America. 81: 1169-1173. PMID 6422468 DOI: 10.1073/pnas.81.4.1169  0.92
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  0.92
1981 Nili M, Salomon J, Halevi A, Schuchman E, Levy MJ. Left ventricular rupture after mitral valve replacement: Report of two cases and a review of the literature Scandinavian Cardiovascular Journal. 15: 235-238. PMID 7347892 DOI: 10.3109/14017438109100579  0.92
1981 Schuchman EH, Desnick RJ. A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycans Analytical Biochemistry. 117: 419-426. PMID 6275743 DOI: 10.1016/0003-2697(81)90801-0  0.92
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