Research Topics
| EDWARD HOWARD SCHUCHMANSummaryAffiliation: Mount Sinai School of Medicine Country: USA Publications
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Publications
Acid sphingomyelinase promotes lipoprotein retention within early atheromata and accelerates lesion progressionCecilia M Devlin
Department of Medicine, Columbia University, New York, NY 10032, USA
Arterioscler Thromb Vasc Biol 28:1723-30. 2008..We now sought to test a direct causative role for acid SMase in lipoprotein retention and atherogenesis in vivo...- The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick diseaseE H Schuchman
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
Int J Clin Pharmacol Ther 47:S48-57. 2009..Based on these studies, clinical trials of ERT are underway in patients with non-neurological ASM-deficient NPD... - The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick diseaseE H Schuchman
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14 20A, New York, NY 10029, USA
J Inherit Metab Dis 30:654-63. 2007..Based on these studies in the mouse model, an enzyme replacement therapy clinical trial has recently begun in adult patients with non-neurological ASM-deficient NPD... - Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick diseaseEdward H Schuchman
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Icahn Medical Institute, New York, NY 10029, USA
FEBS Lett 584:1895-900. 2010..This review will focus on the role of ASM in membrane biology, with a specific emphasis on what a rare genetic disorder (NPD) has taught us about more common events... - Gene therapy for genetic diseasesR J Desnick
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Acta Paediatr Jpn 40:191-203. 1998..Each of these gene delivery systems is reviewed here and their advantages and disadvantages compared. In addition, the current status and future prospects for human gene therapy trials for genetic diseases are discussed... - Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient miceS R Miranda
Department of Human Genetics and Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, New York 10029, USA
Transplantation 65:884-92. 1998..In the present study, we evaluated whether bone marrow transplantation (BMT) carried out on newborn ASMKO mice could prevent or alter the Niemann-Pick disease phenotype... - 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 mucopolysaccharidosesC M Simonaro
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Lab Invest 81:1319-28. 2001..In turn, this leads to abnormal cartilage matrix homeostasis in the MPS individuals, which further exacerbates the joint deformities characteristic of these disorders... - Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseasesE H Schuchman
Department of Human Genetics and Institute for Gene Therapy and Molecular Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
Chem Phys Lipids 102:179-88. 1999.... - Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick diseaseK Horinouchi
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Nat Genet 10:288-93. 1995..Thus, the ASM deficient mice should be of great value for studying the pathogenesis and treatment of NPD, and for investigations into the role of ASM in signal transduction and apoptosis... - 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 patientsO Levran
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
J Clin Invest 88:806-10. 1991..Although only two patients have been studied, it appears that the delta R608 mutation occurs frequently in Type B Niemann-Pick disease patients of Ashkenazi Jewish descent... - Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutationT Kunieda
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
Genomics 29:582-7. 1995..Thus, we conclude that 507insC is the causative mutation in these animals and that the MPS VI rats are an authentic model of human MPS VI... - Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick diseaseR Dhami
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Lab Invest 81:987-99. 2001.... - Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: 'proof of principle' in acid sphingomyelinase-deficient miceA Butler
Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madision Avenue, New York, NY 10029, USA
J Inherit Metab Dis 28:1-12. 2005..We suggest that PED may be useful for the preimplantation diagnosis of lysosomal storage disorders, and perhaps other enzymatic defects where similar in situ assay methods are available... - Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase geneS L Schissel
Department of Anatomy, Columbia University, New York, New York 10032, USA
J Biol Chem 271:18431-6. 1996..This secreted enzyme may play roles in physiological and pathophysiological processes involving extracellular sphingomyelin hydrolysis... - An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick diseaseX He
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Anal Biochem 293:204-11. 2001.... - Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patientsO Levran
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029
Proc Natl Acad Sci U S A 88:3748-52. 1991..The identification of this ASM mutation in Ashkenazi Jewish patients should facilitate the prevention of NPD in this population by carrier detection with molecular diagnostic techniques... - Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441XE H Schuchman
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Hum Mutat 6:352-4. 1995 - N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VIC M Simonaro
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
Biochim Biophys Acta 1272:129-32. 1995..In fact, three of the mutations occurred within the same codon, W146. Thus, these results provide new insights into the molecular lesions causing MPS VI and highlight the importance of this conserved sulfatase region... - Mouse models of Niemann-Pick disease: mutation analysis and chromosomal mapping rule out the type A and B formsK Horinouchi
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029
Genomics 18:450-1. 1993 - 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 formsT Takahashi
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
J Biol Chem 267:12552-8. 1992..These findings have facilitated genotype/phenotype correlations for this lysosomal storage disease and provided insights into the functional organization of the ASM polypeptide... - Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patientsO Levran
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029
Blood 80:2081-7. 1992.... - Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick diseaseT Takahashi
Mount Sinai School of Medicine, New York, New York 10029
Hum Mutat 1:70-1. 1992 - 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 heterogeneityW D Jin
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029
Am J Hum Genet 50:795-800. 1992..The identification of these three ASB mutations documents the first evidence of molecular heterogeneity in MPS VI and provides an initial basis for genotype/phenotype correlations in this lysosomal storage disease... - Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)E H Schuchman
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
Genomics 12:197-205. 1992..A single Alu1 element in the reverse orientation was in intron 2, immediately downstream from the type 2-specific sequence.(ABSTRACT TRUNCATED AT 250 WORDS).. - Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAsE H Schuchman
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
J Biol Chem 266:8531-9. 1991..The type 3 cDNA resulted from an alternative splicing event, which excised the 172-bp exon. These studies demonstrate the occurrence of alternatively splicing of the ASM transcript, but the existence of only one functional mRNA... - An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)E H Schuchman
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029
Nucleic Acids Res 19:3160. 1991 - The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expressionC M Li
Department of Human Genetics, Mount Sinai School of Medicine, New York 10029, USA
Genomics 62:223-31. 1999..Although the levels of protein expression for these mutant ACs were about equivalent to that of the controls, their enzymatic activity was markedly reduced, confirming their authenticity... - Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4L da Veiga Pereira
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
Genomics 9:229-34. 1991..In contrast to the previous provisional localization to chromosome 17, these results assign a single locus for human SMPD1 to 11p15.1----p15.4... - Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1C E Jackson
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029
Genomics 14:403-11. 1992..The functional integrity of this cDNA was demonstrated by transient expression in human embryonic kidney cells.(ABSTRACT TRUNCATED AT 250 WORDS).. - Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilizationEfrat Eliyahu
Department of Genetics and Genomic Sciences, Mt Sinai School of Medicine, 1425 Madison Ave, Rm 14 20A, New York, NY 10029, USA
FASEB J 24:1229-38. 2010..Eliyahu, E., Shtraizent, N., Martinuzzi, K., Barritt, J., He, X., Wei, H., Chaubal, S., Copperman, A. B., Schuchman, E. H. Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilization... - Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosisSilvia Muro
Institute for Environmental Medicine, University of Pennsylvania Medical School, 1 John Morgan Building, 3620 Hamilton Walk, Philadelphia, PA 19104 6068, USA
Mol Ther 13:135-41. 2006..Therefore, lysosomal enzyme targeting using nanocarriers targeted to ICAM-1 bypasses defunct pathways and may improve the efficacy of enzyme replacement therapy for lysosomal disorders, such as Niemann-Pick disease... - Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout miceRajwinder Dhami
Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, New York, NY 10029, USA
Mol Ther 13:556-64. 2006..These studies illustrate the value of gene expression analysis for the identification of biomarkers, and provide new insight into the pathobiology of NPD... - Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A diseaseJames C Dodge
Genzyme Corporation, One Mountain Road, Framingham, MA 01701, USA
Proc Natl Acad Sci U S A 102:17822-7. 2005..Our results support the continued development of AAV based vectors for gene therapy of the CNS manifestations in Niemann-Pick type A disease... - A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell deathPeter I Darroch
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
J Lipid Res 46:2315-24. 2005..Thus, AD2765 might be used to manipulate sphingomyelin metabolism in various ways, potentially to reduce substrate accumulation in cells from types A and B Niemann-Pick disease patients, and/or to affect the growth of human cancer cells... - Bone marrow transplantation for feline mucopolysaccharidosis IN Matthew Ellinwood
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Mol Genet Metab 91:239-50. 2007..Immunohistochemical and biochemical analysis documented decreased central nervous system ganglioside storage. This large animal MPS I study will serve as a benchmark of future therapies designed to improve on BMT... - Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouseMarco A Passini
Genzyme Corporation, Framingham, MA 01701, USA
Proc Natl Acad Sci U S A 104:9505-10. 2007..These data demonstrate that combination therapy is a promising therapeutic modality for treating NPD and suggest a potential strategy for treating disease indications that cause both visceral and CNS pathologies... - Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseasesAvigdor Butler
Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14 20A, New York, NY 10029, USA
Am J Pathol 170:2077-88. 2007..It therefore could have a major impact on the prevention of this and perhaps other genetic diseases... - Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouseWendy W Yang
Genzyme Corporation, One Mountain Road, Framingham, MA 01701 9322, USA
Exp Neurol 207:258-66. 2007..These results indicate that intraparenchymal injection of hASM is associated with minimal toxicity and can lead to regional reductions in storage pathology in the ASMKO mouse... - The sphingosine 1-phosphate receptor 1 causes tissue retention by inhibiting the entry of peripheral tissue T lymphocytes into afferent lymphaticsLevi G Ledgerwood
Department of Gene and Cell Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
Nat Immunol 9:42-53. 2008..Thus, the increased sphingosine 1-phosphate present in inflamed peripheral tissues may induce T cell retention and suppress T cell egress... - Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseasesCalogera M Simonaro
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, 1425 Madison Ave, New York, NY, 10029, USA
Am J Pathol 172:112-22. 2008..These findings have important implications for the pathogenesis and treatment of MPS and have further defined the mechanism of GAG-stimulated disease... - Delivery of acid sphingomyelinase in normal and niemann-pick disease mice using intercellular adhesion molecule-1-targeted polymer nanocarriersCarmen Garnacho
Department of Pharmacology, John Morgan Bldg, 3620 Hamilton Walk, Philadelphia, PA 19104 6068, USA
J Pharmacol Exp Ther 325:400-8. 2008..These data demonstrate that ICAM-1-targeted nanocarriers may enhance enzyme replacement therapy for type B NPD and perhaps other lysosomal storage disorders... - The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseasesEric L Smith
Department of Genetics and Genomic Sciences, Mt Sinai School of Medicine, 1425 Madison Ave, New York, NY 10029, USA
FASEB J 22:3419-31. 2008.... - Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick diseaseCalogera M Simonaro
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
Am J Hum Genet 78:865-70. 2006..These data thus demonstrate, for the first time, imprinting at the SMPD1 gene and reveal the influence of this epigenetic modification on the presentation of ASM-deficient NPD... - AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick diseaseChristine M Barbon
Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701-9322, USA
Mol Ther 12:431-40. 2005..Together, these data support the continued development of AAV8-mediated hepatic gene transfer as an approach to treat the visceral manifestations observed in individuals with acid sphingomyelinase deficiency... - Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinaseXingxuan He
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
J Biol Chem 278:32978-86. 2003..These studies provide new insights into acid ceramidase and the related lipid hydrolase, acid sphingomyelinase... - Growth restriction in children with type B Niemann-Pick diseaseMelissa P Wasserstein
Department of Human Genetics, and the Carl C Icahn Institute for Gene Therapy and Molecular Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
J Pediatr 142:424-8. 2003..To compare growth of children with type B Niemann-Pick disease (NPD) with disease variables including genotype, organomegaly, bone age, and serum insulin-like growth factor-1 (IGF-1)... - The reverse activity of human acid ceramidaseNozomu Okino
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
J Biol Chem 278:29948-53. 2003..These data provide important new information on human acid ceramidase and further document its central role in sphingolipid metabolism... - Enzyme replacement and enhancement therapies: lessons from lysosomal disordersRobert J Desnick
Department of Human Genetics, Mount Sinai School of Medicine at New York University, New York, New York 10029, USA
Nat Rev Genet 3:954-66. 2002..This review discusses the successes and shortcomings of these therapeutic strategies, and the contributions that they have made to treating lysosomal storage diseases... - Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapyRajwinder Dhami
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
J Biol Chem 279:1526-32. 2004..These findings have important implications for NPD enzyme replacement therapy, particularly in the lung... - AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A diseaseMarco A Passini
Neuroscience, Genzyme Corporation, One Mountain Road, Framingham, MA 01701, USA
Mol Ther 11:754-62. 2005..These findings show that the ASMKO brain is responsive to ASM replacement and that retrograde transport of AAV2 functions as a platform for widespread gene delivery and reversal of pathology in affected brain... - The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlationsCalogera M Simonaro
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
Am J Hum Genet 71:1413-9. 2002..These data provide the first extensive demographic assessment of this disorder and describe several new mutations that can be used to predict phenotypic outcome and to gain new insights into the structure and function of ASM... - Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick diseaseHee-Kyung Jin
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Mol Ther 8:876-85. 2003.... - Ocular manifestations of Niemann-Pick disease type BMargaret M McGovern
Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
Ophthalmology 111:1424-7. 2004..To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B)... - Lipid abnormalities in children with types A and B Niemann Pick diseaseMargaret M McGovern
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
J Pediatr 145:77-81. 2004..To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype... - Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life spanHee Kyung Jin
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 1029, USA
J Clin Invest 109:1183-91. 2002..These results reveal the potential of treating neurodegenerative lysosomal storage disorders by intracerebral transplantation of bone marrow-derived MSCs... - A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolismXingxuan He
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Anal Biochem 306:115-23. 2002..It could also be a useful tool for the study of other sphingomyelin-related diseases and in a variety of research settings where sphingomyelin quantification is required... - Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient miceAvigdor Butler
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Am J Pathol 161:1061-75. 2002..These results provide in vivo evidence that ASM activity plays a critical role in sperm maturation and function, and a basis for similar studies in sexually mature, male NPD patients... - Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal modelsCalogera M Simonaro
Department of Human Genetics, Mount Sainai School of Medicine, New York, NY 10029, USA
Pediatr Res 57:701-7. 2005..This information should aid in the evaluation of existing therapies for these disorders, such as enzyme replacement therapy and bone marrow transplantation, and may lead to the development of new therapeutic approaches... - Preimplantation genetic diagnosis for Niemann-Pick disease type BAli Hellani
King Faisal Specialist Hospital and Research Center, PO Box 3354, MBC 10, Riyadh 11211, Saudi Arabia
Prenat Diagn 24:943-8. 2004..Given the difficult management of the disease, we opted for a preventive approach to the suffering families by screening the whole SMPD1 gene for mutations followed by Preimplantation Genetic Diagnosis (PGD)... - The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal studyMelissa P Wasserstein
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
Pediatrics 114:e672-7. 2004..The objectives of this study were to document the natural history of the disease in a large, clinically heterogeneous patient population that was followed for a period of 10 years and to determine how genotype influences phenotype... - Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick diseaseMachiko Ikegami
Cincinnati Children s Hospital Medical Center, Division of Pulmonary Biology, Cincinnati, Ohio 45229, USA
Am J Physiol Lung Cell Mol Physiol 284:L518-25. 2003..Alterations in surfactant composition, including increased sphingomyelin content, contributed to the abnormal surfactant function observed in the ASM-deficient mouse... - Acid sphingomyelinase overexpression enhances the antineoplastic effects of irradiation in vitro and in vivoEric L Smith
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA
Mol Ther 16:1565-71. 2008..Based on the data presented in this article, we propose that further investigation of this protein and gene as antineoplastic agents also is warranted... - Autoproteolytic cleavage and activation of human acid ceramidaseNataly Shtraizent
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA
J Biol Chem 283:11253-9. 2008..Treatment of recombinant AC with the cysteine protease inhibitor, methyl methanethiosulfonate, inhibited both cleavage and enzymatic activity, further indicating that cysteine-mediated self-cleavage is required for ceramide hydrolysis... - A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick diseaseXingxuan He
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
Anal Biochem 314:116-20. 2003.... - Nitric oxide boosts chemoimmunotherapy via inhibition of acid sphingomyelinase in a mouse model of melanomaCristiana Perrotta
H San Raffaele Scientific Institute, Italy
Cancer Res 67:7559-64. 2007.... - Simultaneous quantitative analysis of ceramide and sphingosine in mouse blood by naphthalene-2,3-dicarboxyaldehyde derivatization after hydrolysis with ceramidaseXingxuan He
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
Anal Biochem 340:113-22. 2005..In the future it could be an important tool for investigators studying the role of ceramide/sphingosine metabolism in signal transduction, cell growth and differentiation, and cancer pathogenesis and treatment... - Bone marrow-derived mesenchymal stem cells promote neuronal networks with functional synaptic transmission after transplantation into mice with neurodegenerationJae Sung Bae
Departments of Physiology, College of Medicine, Kyungpook National University, Korea
Stem Cells 25:1307-16. 2007..Disclosure of potential conflicts of interest is found at the end of this article... - Acid ceramidase and human diseaseJae-Ho Park
Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14-20A, New York, NY 10029, USA
Biochim Biophys Acta 1758:2133-8. 2006..Current information concerning the biology of this enzyme and its role in human disease is reviewed within... - Neurodegeneration augments the ability of bone marrow-derived mesenchymal stem cells to fuse with Purkinje neurons in Niemann-Pick type C miceJae-sung Bae
College of Veterinary Medicine, Kyungpook National University, Daegu, South Korea
Hum Gene Ther 16:1006-11. 2005..The results suggest that the degenerative microenvironment of Purkinje neurons in the NP-C cerebellum modulates the cell fate switch of BM-MSCs via cell fusion... - Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activityIkuko Takahashi
Department of Pediatrics, Akita University School of Medicine, 1 1 1 Hondo, Akita, Japan
Tohoku J Exp Med 206:333-40. 2005.... - Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophagesYunxiang Zhu
Genzyme Corporation, Framingham, MA 01701-9322, USA
J Pharmacol Exp Ther 308:705-11. 2004..Together, these data suggest that pretreatment with dexamethasone could specifically enhance the presentation of mannose receptors on Gaucher macrophages with resultant improvement in delivery of the enzyme to the affected cells... - Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotesChi Ming Li
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
Genomics 79:218-24. 2002....
Research Grants
- ACID CERAMIDASE, CERAMIDE & FARBER DISEASEEDWARD HOWARD SCHUCHMAN; Fiscal Year: 2010..We will continue to characterize the inhibitory effects of novel sphingolipid analogues in vitro and in situ, and evaluate their use for chaperone therapy of Farber disease. ..
- ACID SPHINGOMYELINASE AND NIEMANN-PICK DISEASEEDWARD SCHUCHMAN; Fiscal Year: 2006..We believe that this research will provide fundamental insights into the underlying biology of NPD & ASM, and lead to the development of effective treatments for these disorders and/or methods to prevent or minimize NPD births. ..
- ACID SPHINGOMYELINASE & NIEMANN-PICK DISEASEEDWARD SCHUCHMAN; Fiscal Year: 2009..These studies will also investigate the broader role of ASM in health & disease, in particular the relationship between ASM activity & pulmonary fibrosis. ..
- ACID SPHINGOMYELINASE & NIEMANN-PICK DISEASEEDWARD HOWARD SCHUCHMAN; Fiscal Year: 2010..These studies will also investigate the broader role of ASM in health &disease, in particular the relationship between ASM activity &pulmonary fibrosis. ..
- ACID SPHINGOMYELINASE & NIEMANN-PICK DISEASEEDWARD SCHUCHMAN; Fiscal Year: 2009..These studies will also investigate the broader role of ASM in health & disease, in particular the relationship between ASM activity & pulmonary fibrosis. ..
- ACID SPHINGOMYELINASE AND NIEMANN-PICK DISEASEEDWARD SCHUCHMAN; Fiscal Year: 2001..These animal model studies are expected to provide fundamental information on the pathophysiology of NPD and the role of ASM in mammalian development and disease pathogenesis. ..
- CERAMIDASES, CERAMIDE, AND FARBER DISEASEEDWARD SCHUCHMAN; Fiscal Year: 2004..abstract_text> ..