Keywords
Last Name
Institution

Edward H. Schuchman

TitlePROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
Address

     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Kim BJ, Lee JK, Schuchman EH, Jin HK, Bae JS. Synergistic vasculogenic effects of AMD3100 and stromal-cell-derived factor-1a in vasa nervorum of the sciatic nerve of mice with diabetic peripheral neuropathy. Cell Tissue Res. 2013 Nov; 354(2):395-407.
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    2. Savic R, He X, Fiel I, Schuchman EH. Recombinant human acid sphingomyelinase as an adjuvant to sorafenib treatment of experimental liver cancer. PLoS One. 2013; 8(5):e65620.
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    3. 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, Turner PV, Hakem R, Levade T, Medin JA. Systemic ceramide accumulation leads to severe and varied pathological consequences. EMBO Mol Med. 2013 Jun; 5(6):827-42.
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    4. 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. 2013; 8(4):e62715.
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    5. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013 Aug; 15(8):618-23.
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    6. 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. 2013 Apr; 34(13):3459-66.
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    7. 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. 2013; 8(1):e54459.
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    8. Schuchman EH, Simonaro CM. The genetics of sphingolipid hydrolases and sphingolipid storage diseases. Handb Exp Pharmacol. 2013; (215):3-32.
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    9. Savic R, Schuchman EH. Use of acid sphingomyelinase for cancer therapy. Adv Cancer Res. 2013; 117:91-115.
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    10. 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). J Orthop Res. 2013 Apr; 31(4):621-31.
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    11. 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. J Inherit Metab Dis. 2013 May; 36(3):467-77.
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    12. Eliyahu E, Shtraizent N, Shalgi R, Schuchman EH. Construction of conditional acid ceramidase knockout mice and in vivo effects on oocyte development and fertility. Cell Physiol Biochem. 2012; 30(3):735-48.
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    13. 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. Mol Ther. 2012 Oct; 20(10):1893-901.
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    14. Lee JK, Schuchman EH, Jin HK, Bae JS. Soluble CCL5 derived from bone marrow-derived mesenchymal stem cells and activated by amyloid ß ameliorates Alzheimer's disease in mice by recruiting bone marrow-induced microglia immune responses. Stem Cells. 2012 Jul; 30(7):1544-55.
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    15. He X, Schuchman EH. Potential role of acid sphingomyelinase in environmental health. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2012 Feb; 37(2):109-25.
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    16. Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev Genomics Hum Genet. 2012; 13:307-35.
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    17. 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. 2011; 6(8):e22447.
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    18. Eliyahu E, Shtraizent N, He X, Chen D, Shalgi R, Schuchman EH. Identification of cystatin SA as a novel inhibitor of acid ceramidase. J Biol Chem. 2011 Oct 14; 286(41):35624-33.
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    19. 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-1a in an Alzheimer's disease mouse model. Stem Cells. 2011 Jul; 29(7):1075-89.
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    20. Ledesma MD, Prinetti A, Sonnino S, Schuchman EH. Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice. J Neurochem. 2011 Mar; 116(5):779-88.
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    21. Prinetti A, Prioni S, Chiricozzi E, Schuchman EH, Chigorno V, Sonnino S. Secondary alterations of sphingolipid metabolism in lysosomal storage diseases. Neurochem Res. 2011 Sep; 36(9):1654-68.
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    22. Dhami R, He X, Schuchman EH. Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. Cell Physiol Biochem. 2010; 26(4-5):749-60.
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    23. 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. J Cell Biol. 2010 Jun 14; 189(6):1027-38.
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    24. 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. Mol Med. 2010 Jul-Aug; 16(7-8):316-21.
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    25. 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. 2010 Apr; 28(4):821-31.
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    26. 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. 2010 May; 11(5):601-15.
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    27. 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. 2010 Feb; 28(2):329-43.
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    28. 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. Proc Natl Acad Sci U S A. 2010 Jan 5; 107(1):222-7.
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    29. 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 J. 2010 Apr; 24(4):1229-38.
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    30. Schuchman EH. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. FEBS Lett. 2010 May 3; 584(9):1895-900.
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    31. Xiao-Yun X, Zhuo-Xiong C, Min-Xiang L, Xingxuan H, Schuchman EH, Feng L, Han-Song X, An-Hua L. Ceramide mediates inhibition of the AKT/eNOS signaling pathway by palmitate in human vascular endothelial cells. Med Sci Monit. 2009 Sep; 15(9):BR254-61.
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    32. 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. Hum Mutat. 2009 Jul; 30(7):1117-22.
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    33. 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. EMBO J. 2009 Apr 22; 28(8):1043-54.
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    34. He X, Huang CL, Schuchman EH. Quantitative analysis of sphingosine-1-phosphate by HPLC after napthalene-2,3-dicarboxaldehyde (NDA) derivatization. J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Apr 1; 877(10):983-90.
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    35. 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. J Neurochem. 2009 Apr; 109(1):105-15.
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    36. 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. Mol Genet Metab. 2009 May; 97(1):35-42.
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    37. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther. 2009; 47 Suppl 1:S48-57.
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    38. 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. Exp Neurol. 2009 Feb; 215(2):349-57.
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    39. 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. Nat Med. 2008 Nov; 14(11):1247-55.
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    40. 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. Mol Genet Metab. 2008 Nov; 95(3):152-62.
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    41. 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. J Neurochem. 2008 Oct; 107(2):329-38.
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    42. 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. Exp Neurol. 2008 Dec; 214(2):181-92.
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    43. Devlin CM, Leventhal AR, Kuriakose G, Schuchman EH, Williams KJ, Tabas I. Acid sphingomyelinase promotes lipoprotein retention within early atheromata and accelerates lesion progression. Arterioscler Thromb Vasc Biol. 2008 Oct; 28(10):1723-30.
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    44. Smith EL, Schuchman EH. Acid sphingomyelinase overexpression enhances the antineoplastic effects of irradiation in vitro and in vivo. Mol Ther. 2008 Sep; 16(9):1565-71.
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    45. Smith EL, Schuchman EH. The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases. FASEB J. 2008 Oct; 22(10):3419-31.
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    46. 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. Mol Ther. 2008 Aug; 16(8):1450-8.
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    47. He X, Huang Y, Li B, Gong CX, Schuchman EH. Deregulation of sphingolipid metabolism in Alzheimer's disease. Neurobiol Aging. 2010 Mar; 31(3):398-408.
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    48. 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. J Pharmacol Exp Ther. 2008 May; 325(2):400-8.
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    49. Shtraizent N, Eliyahu E, Park JH, He X, Shalgi R, Schuchman EH. Autoproteolytic cleavage and activation of human acid ceramidase. J Biol Chem. 2008 Apr 25; 283(17):11253-9.
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    50. 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. Am J Respir Cell Mol Biol. 2008 Jun; 38(6):639-46.
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    51. 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. Am J Pathol. 2008 Jan; 172(1):112-22.
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    52. 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, Bromberg JS. The sphingosine 1-phosphate receptor 1 causes tissue retention by inhibiting the entry of peripheral tissue T lymphocytes into afferent lymphatics. Nat Immunol. 2008 Jan; 9(1):42-53.
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    53. 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. J Inherit Metab Dis. 2007 Nov; 30(6):986.
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    54. 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 Res. 2007 Aug 15; 67(16):7559-64.
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    55. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis. 2007 Oct; 30(5):654-63.
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    56. 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. Exp Neurol. 2007 Oct; 207(2):258-66.
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    57. 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. Am J Pathol. 2007 Jun; 170(6):2077-88.
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    58. 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. Proc Natl Acad Sci U S A. 2007 May 29; 104(22):9505-10.
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    59. 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, Evans SM, Vanier MT, Schuchman EH, Walkley SU, Haskins ME. Bone marrow transplantation for feline mucopolysaccharidosis I. Mol Genet Metab. 2007 Jul; 91(3):239-50.
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    60. 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. 2007 May; 25(5):1307-16.
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    61. Eliyahu E, Park JH, Shtraizent N, He X, Schuchman EH. Acid ceramidase is a novel factor required for early embryo survival. FASEB J. 2007 May; 21(7):1403-9.
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    62. Park JH, Schuchman EH. Acid ceramidase and human disease. Biochim Biophys Acta. 2006 Dec; 1758(12):2133-8.
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    63. 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. Am J Hum Genet. 2006 May; 78(5):865-70.
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    64. Park JH, Eliyahu E, Narla G, DiFeo A, Martignetti JA, Schuchman EH. KLF6 is one transcription factor involved in regulating acid ceramidase gene expression. Biochim Biophys Acta. 2005 Dec 30; 1732(1-3):82-7.
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    65. 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. Proc Natl Acad Sci U S A. 2005 Dec 6; 102(49):17822-7.
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    66. Dhami R, Passini MA, Schuchman EH. Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice. Mol Ther. 2006 Mar; 13(3):556-64.
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    67. Muro S, Schuchman EH, Muzykantov VR. Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis. Mol Ther. 2006 Jan; 13(1):135-41.
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    68. 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. J Lipid Res. 2005 Nov; 46(11):2315-24.
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    69. 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. Mol Ther. 2005 Sep; 12(3):431-40.
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    70. 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 J Exp Med. 2005 Aug; 206(4):333-40.
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    71. 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. Hum Gene Ther. 2005 Aug; 16(8):1006-11.
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    72. 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. Anal Biochem. 2005 May 1; 340(1):113-22.
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    73. 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. Mol Ther. 2005 May; 11(5):754-62.
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    74. 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. Pediatr Res. 2005 May; 57(5 Pt 1):701-7.
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    75. 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. J Inherit Metab Dis. 2005; 28(1):1-12.
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    76. 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. Prenat Diagn. 2004 Dec 15; 24(12):943-8.
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    77. 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. 2004 Dec; 114(6):e672-7.
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    78. McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophthalmology. 2004 Jul; 111(7):1424-7.
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    79. 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. J Pediatr. 2004 Jul; 145(1):77-81.
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    80. 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. Mol Ther. 2003 Dec; 8(6):876-85.
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    81. 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. J Pharmacol Exp Ther. 2004 Feb; 308(2):705-11.
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    82. 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. J Biol Chem. 2004 Jan 9; 279(2):1526-32.
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    83. 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. J Biol Chem. 2003 Aug 29; 278(35):32978-86.
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    84. Okino N, He X, Gatt S, Sandhoff K, Ito M, Schuchman EH. The reverse activity of human acid ceramidase. J Biol Chem. 2003 Aug 8; 278(32):29948-53.
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    85. Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM. Growth restriction in children with type B Niemann-Pick disease. J Pediatr. 2003 Apr; 142(4):424-8.
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    86. 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. Anal Biochem. 2003 Mar 1; 314(1):116-20.
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    87. Victor S, Coulter JB, Besley GT, 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. J Inherit Metab Dis. 2003; 26(8):775-85.
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    88. Ikegami M, Dhami R, Schuchman EH. Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. Am J Physiol Lung Cell Mol Physiol. 2003 Mar; 284(3):L518-25.
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    89. Desnick RJ, Schuchman EH. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet. 2002 Dec; 3(12):954-66.
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    90. 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. Am J Hum Genet. 2002 Dec; 71(6):1413-9.
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    91. Butler A, He X, Gordon RE, Wu HS, Gatt S, Schuchman EH. Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. Am J Pathol. 2002 Sep; 161(3):1061-75.
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    92. 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. Anal Biochem. 2002 Jul 1; 306(1):115-23.
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    93. 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. J Clin Invest. 2002 May; 109(9):1183-91.
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    94. 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. 2002 Feb; 79(2):218-24.
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    95. 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. Lab Invest. 2001 Sep; 81(9):1319-28.
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    96. Ferlinz K, Kopal G, Bernardo K, Linke T, Bar J, Breiden B, Neumann U, Lang F, Schuchman EH, Sandhoff K. Human acid ceramidase: processing, glycosylation, and lysosomal targeting. J Biol Chem. 2001 Sep 21; 276(38):35352-60.
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    97. 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. Lab Invest. 2001 Jul; 81(7):987-99.
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    98. 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. Anal Biochem. 2001 Jun 15; 293(2):204-11.
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    99. Sarna J, Miranda SR, Schuchman EH, Hawkes R. Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease. Eur J Neurosci. 2001 May; 13(10):1873-80.
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    100. Carter JE, Schuchman EH. Gene therapy for neurodegenerative diseases: fact or fiction? Br J Psychiatry. 2001 May; 178:392-4.
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    101. Bär J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutat. 2001 Mar; 17(3):199-209.
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    102. 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. Mol Genet Metab. 2001 Mar; 72(3):199-208.
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    103. Lozano J, Morales A, Cremesti A, Fuks Z, Tilly JL, Schuchman E, Gulbins E, Kolesnick R. Niemann-Pick Disease versus acid sphingomyelinase deficiency. Cell Death Differ. 2001 Jan; 8(1):100-3.
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    104. 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. J Biol Chem. 2001 Feb 23; 276(8):5760-8.
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    105. 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. Nat Med. 2000 Oct; 6(10):1109-14.
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    106. Miranda SR, 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 Ther. 2000 Oct; 7(20):1768-76.
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    107. Miranda SR, 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 J. 2000 Oct; 14(13):1988-95.
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    108. 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. J Mol Neurosci. 2000 Oct; 15(2):85-97.
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    109. 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. Hum Mol Genet. 2000 Aug 12; 9(13):1967-76.
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    110. 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. J Biol Chem. 2000 Mar 24; 275(12):8657-63.
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    111. Schuchman EH, Erlich S, Miranda SR, Dinur T, Dagan A, Gatt S. Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression. Methods Enzymol. 2000; 312:330-8.
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    112. 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. 1999 Dec 1; 62(2):232-41.
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    113. 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. 1999 Dec 1; 62(2):223-31.
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    114. Schuchman EH. Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. Chem Phys Lipids. 1999 Nov; 102(1-2):179-88.
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    115. 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. Anal Biochem. 1999 Oct 15; 274(2):264-9.
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    116. He X, Miranda SR, Xiong X, Dagan A, Gatt S, Schuchman EH. Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells. Biochim Biophys Acta. 1999 Jul 13; 1432(2):251-64.
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    117. 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. Mol Genet Metab. 1999 Jun; 67(2):106-12.
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    118. 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. 1999 Jan 1; 93(1):80-6.
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    119. 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 Ther. 1999 Jan; 6(1):107-13.
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    120. Manthey CL, Schuchman EH. Acid sphingomyelinase-derived ceramide is not required for inflammatory cytokine signalling in murine macrophages. Cytokine. 1998 Sep; 10(9):654-61.
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    121. 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. J Biol Chem. 1998 Jul 17; 273(29):18250-9.
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    122. Desnick RJ, Schuchman EH. Gene therapy for genetic diseases. Acta Paediatr Jpn. 1998 Jun; 40(3):191-203.
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    123. 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. 1998 Jun 1; 50(2):267-74.
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    124. Miranda SR, 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. 1998 Apr 15; 65(7):884-92.
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    125. 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. J Exp Med. 1998 Mar 16; 187(6):897-902.
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    126. 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. J Exp Med. 1997 Dec 1; 186(11):1831-41.
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    127. 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. 1997 Jul 1; 90(1):444-52.
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    128. Simonaro CM, Haskins ME, Kunieda T, Evans SM, Visser JW, Schuchman EH. Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings. Transplantation. 1997 May 27; 63(10):1386-93.
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    129. 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. Eur J Biochem. 1997 Jan 15; 243(1-2):511-7.
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    130. Schuchman EH, Miranda SR. Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet Test. 1997; 1(1):13-9.
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    131. 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. J Biol Chem. 1996 Dec 20; 271(51):33110-5.
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    132. 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. J Biol Chem. 1996 Aug 2; 271(31):18431-6.
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    133. 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. 1996 Jul 26; 86(2):189-99.
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    134. 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. J Clin Invest. 1996 Jul 15; 98(2):497-502.
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    135. Simonaro CM, Schuchman EH. N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI. Biochim Biophys Acta. 1995 Dec 12; 1272(3):129-32.
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    136. 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. 1995 Oct 10; 29(3):582-7.
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    137. 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. Tohoku J Exp Med. 1995 Oct; 177(2):117-23.
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    138. 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. Hum Gene Ther. 1995 Aug; 6(8):975-83.
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    139. 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. Nat Genet. 1995 Jul; 10(3):288-93.
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    140. Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K. Purification, characterization, and biosynthesis of human acid ceramidase. J Biol Chem. 1995 May 12; 270(19):11098-102.
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    141. Wan Q, Schuchman EH. A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region. Biochim Biophys Acta. 1995 Apr 24; 1270(2-3):207-10.
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    142. Schuchman EH. Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. Hum Mutat. 1995; 6(4):352-4.
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    143. 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. 1993 Nov; 18(2):450-1.
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    144. 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. Hum Mol Genet. 1993 Feb; 2(2):205-6.
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    145. 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. Hum Mutat. 1993; 2(4):317-9.
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    146. Dinur T, Schuchman EH, Fibach E, 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. Hum Gene Ther. 1992 Dec; 3(6):633-9.
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    147. Levran O, Desnick RJ, Schuchman EH. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood. 1992 Oct 15; 80(8):2081-7.
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    148. 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. 1992 Oct; 14(2):403-11.
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    149. Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. J Biol Chem. 1992 Jun 25; 267(18):12552-8.
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    150. 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. Proc Natl Acad Sci U S A. 1992 Apr 15; 89(8):3227-31.
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    151. Jin WD, Jackson CE, Desnick RJ, Schuchman EH. Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am J Hum Genet. 1992 Apr; 50(4):795-800.
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    152. Schuchman EH, Levran O, Pereira LV, Desnick RJ. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics. 1992 Feb; 12(2):197-205.
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    153. 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. Hum Mutat. 1992; 1(1):70-1.
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    154. 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. J Clin Invest. 1991 Sep; 88(3):806-10.
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    155. Jin WD, Desnick RJ, Schuchman EH. A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14. Nucleic Acids Res. 1991 Aug 11; 19(15):4305.
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    156. Schuchman EH, Levran O, Suchi M, Desnick RJ. An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1). Nucleic Acids Res. 1991 Jun 11; 19(11):3160.
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    157. Haskins ME, Aguirre GD, Jezyk PF, Schuchman EH, Desnick RJ, Patterson DF. Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. Am J Pathol. 1991 Jun; 138(6):1553-5.
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    158. Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem. 1991 May 5; 266(13):8531-9.
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    159. 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. Proc Natl Acad Sci U S A. 1991 May 1; 88(9):3748-52.
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    160. 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. 1991 Feb; 9(2):229-34.
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    161. Stramm LE, Wolfe JH, Schuchman EH, Haskins ME, Patterson DF, Aguirre GD. Beta-glucuronidase mediated pathway essential for retinal pigment epithelial degradation of glycosaminoglycans. Disease expression and in vitro disease correction using retroviral mediated cDNA transfer. Exp Eye Res. 1990 May; 50(5):521-32.
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    162. 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. Proc Natl Acad Sci U S A. 1990 Apr; 87(8):2877-81.
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    163. 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. 1990 Jan; 6(1):149-58.
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    164. Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ. Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. EMBO J. 1989 Sep; 8(9):2469-73.
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    165. Schuchman EH, O'Brien SJ, Desnick RJ. Assignment of the feline alpha-L-iduronidase gene to chromosome D4. Genomics. 1989 Apr; 4(3):442-4.
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    166. Schuchman EH, Toroyan TK, Haskins ME, Desnick RJ. Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII. Enzyme. 1989; 42(3):174-80.
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    167. Schuchman EH, Desnick RJ. Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities. J Clin Invest. 1988 Jan; 81(1):98-105.
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    168. Schuchman EH, Guzman NA, Desnick RJ. Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms. J Biol Chem. 1984 Mar 10; 259(5):3132-40.
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    169. Schuchman EH, Astrin KH, Aula P, Desnick RJ. Regional assignment of the structural gene for human alpha-L-iduronidase. Proc Natl Acad Sci U S A. 1984 Feb; 81(4):1169-73.
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    170. Schuchman EH, Guzman NA, Takada G, Desnick RJ. Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms. Enzyme. 1984; 31(3):166-75.
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    171. 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. J Clin Invest. 1982 Feb; 69(2):294-302.
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    172. Desnick RJ, McGovern MM, Schuchman EH, Haskins ME. Animal analogues of human inherited metabolic diseases: molecular pathology and therapeutic studies. Prog Clin Biol Res. 1982; 94:27-65.
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    173. Schuchman EH, Desnick RJ. A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycans. Anal Biochem. 1981 Nov 1; 117(2):419-26.
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    174. Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnick RJ. Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol. 1981 May; 103(2):247-62.
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    175. 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. Scand J Thorac Cardiovasc Surg. 1981; 15(3):235-8.
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