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Edward Schuchman

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Jason Papademetriou; Edward H Schuchman; Daniel Serrano; Tridib Bhowmick; Carmen Garnacho; Silvia Muro
Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor.
Iason T Papademetriou; Edward H Schuchman; Carmen Garnacho; Silvia Muro
In vivo performance of polymer nanocarriers dually-targeted to epitopes of the same or different receptors.
Alon Lai; Damien Laudier; Edward H Schuchman; Calogera M Simonaro; Yi Ge; James C Iatridis
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

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2013: Jason Papademetriou; Edward H Schuchman; Daniel Serrano; Tridib Bhowmick; Carmen Garnacho; Silvia Muro
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 2013;36(3):467-77.
2013: Iason T Papademetriou; Edward H Schuchman; Carmen Garnacho; Silvia Muro
In vivo performance of polymer nanocarriers dually-targeted to epitopes of the same or different receptors.
Biomaterials 2013;34(13):3459-66.
2013: Alon Lai; Damien Laudier; Edward H Schuchman; Calogera M Simonaro; Yi Ge; James C Iatridis
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 2013;31(4):621-31.
2013: Calogera M Simonaro; Hui B Sun; Victor A Deangelis; Efrat Eliyahu; Yi Ge; Mark E Haskins; Xingxuan He; Daniel J Leong; Jeffrey B Mason; Dean W Richardson; Sylvain Sachot; Edward H Schuchman
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.
2013: Edward H Schuchman; Calogera M Simonaro
The genetics of sphingolipid hydrolases and sphingolipid storage diseases.
Handbook of experimental pharmacology 2013;215():3-32.
2013: Edward H Schuchman; Gary Striker; Helen Vlassara; Yury Borisov; Efrat Eliyahu; Meghan Faillace; Yi Ge; Xingxuan He; James Iatridis; Alon Lai; Calogera M Simonaro
Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses.
PloS one 2013;8(1):e54459.
2013: Radoslav Savić; Edward H Schuchman
Use of acid sphingomyelinase for cancer therapy.
Advances in cancer research 2013;117():91-115.
2012: Jie Bu; Mario A Cabrera-Salazar; Seng H Cheng; James C Dodge; John Forsayeth; John Marshall; Karen M Ashe; Krystof Bankiewicz; John Bringas; Edward H Schuchman; Lamya S Shihabuddin; Marco A Passini
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 2012;20(10):1893-901.
2012: Jong Kil Lee; Edward H Schuchman; Hee Kyung Jin; Jae-Sung Bae
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 (Dayton, Ohio) 2012;30(7):1544-55.
2012: Xingxuan He; Edward H Schuchman
Potential role of acid sphingomyelinase in environmental health.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2012;37(2):109-25.
2012: Robert J Desnick; Edward H Schuchman
Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges.
Annual review of genomics and human genetics 2012;13():307-35.
2012: Efrat Eliyahu; Ruth Shalgi; Nataly Shtraizent; Edward H Schuchman
Construction of conditional acid ceramidase knockout mice and in vivo effects on oocyte development and fertility.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2012;30(3):735-48.
2011: Efrat Eliyahu; Xingxuan He; Ruth Shalgi; Nataly Shtraizent; Dafna Chen; Edward H Schuchman
Identification of cystatin SA as a novel inhibitor of acid ceramidase.
The Journal of biological chemistry 2011;286(41):35624-33.
2011: Alessandro Prinetti; Simona Prioni; Edward H Schuchman; Vanna Chigorno; Elena Chiricozzi; Sandro Sonnino
Secondary alterations of sphingolipid metabolism in lysosomal storage diseases.
Neurochemical research 2011;36(9):1654-68.
2011: Ji-Woong Shin; Hee Kyung Jin; Jeong Eun Lee; Jong Kil Lee; Woo-Kie Min; Edward H Schuchman; Jae-Sung Bae
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 (Dayton, Ohio) 2011;29(7):1075-89.
2011: Maria Dolores Ledesma; Alessandro Prinetti; Sandro Sonnino; Edward H Schuchman
Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice.
Journal of neurochemistry 2011;116(5):779-88.
2011: Efrat Eliyahu; Yi Ge; Karl Jepsen; Edward H Schuchman; Theodore Wolfson; Calogera M Simonaro
Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI.
PloS one 2011;6(8):e22447.
2010: Jonathan P Desnick; Jungmin Kim; Xingxuan He; Melissa P Wasserstein; Calogera M Simonaro; Edward H Schuchman
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Molecular medicine (Cambridge, Mass.) 2010;16(7-8):316-21.
2010: Edward H Schuchman
Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
FEBS letters 2010;584(9):1895-900.
2010: Efrat Eliyahu; Nataly Shtraizent; Kurt Martinuzzi; Jason Barritt; Xingxuan He; Hong Wei; Sanjeev Chaubal; Alan B Copperman; Edward H Schuchman
Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilization.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010;24(4):1229-38.
2010: Xingxuan He; Yu Huang; Bin Li; Cheng-Xin Gong; Edward H Schuchman
Deregulation of sphingolipid metabolism in Alzheimer's disease.
Neurobiology of aging 2010;31(3):398-408.
2010: Jong Kil Lee; Hee Kyung Jin; Shogo Endo; Edward H Schuchman; Janet E Carter; Jae-Sung Bae
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 (Dayton, Ohio) 2010;28(2):329-43.
2010: Calogera M Simonaro; Yi Ge; Efrat Eliyahu; Xingxuan He; Karl Jepsen; Edward H Schuchman
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 2010;107(1):222-7.
2010: Rajwinder Dhami; Xingxuan He; Edward H Schuchman
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2010;26(4-5):749-60.
2009: Robin J Ziegler; Claire Brown; Christine Barbon; Anne Marie D'Angona; Edward H Schuchman; Laura Andrews; Beth L Thurberg; John M McPherson; Kenneth P Karey; Seng Cheng
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 2009;97(1):35-42.
2009: Xingxuan He; Chien-Ling Huang; Edward H Schuchman
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 2009;877(10):983-90.
2009: Barbara Buccinnà; Marco Piccinini; Alessandro Prinetti; Federica Scandroglio; Simona Prioni; MANUELA VALSECCHI; Barbara Votta; Silvia Grifoni; Elisa Lupino; Cristina Ramondetti; Edward H Schuchman; Maria Teresa Giordana; Sandro Sonnino; Maria Teresa Rinaudo
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 2009;109(1):105-15.
2009: James C Dodge; Jennifer Clarke; Christopher M Treleaven; Tatyana V Taksir; Denise A Griffiths; Wendy Yang; Jonathan A Fidler; Marco A Passini; Kenneth P Karey; Edward H Schuchman; Seng Cheng; Lamya S Shihabuddin
Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease.
Experimental neurology 2009;215(2):349-57.
2009: Edward H Schuchman
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
International journal of clinical pharmacology and therapeutics 2009;47 Suppl 1():S48-57.
2008: Shannon L Macauley; Richard L Sidman; Edward H Schuchman; Tatyana Taksir; Gregory R Stewart
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 2008;214(2):181-92.
2008: Emyr Lloyd-Evans; Anthony J Morgan; Xingxuan He; David A Smith; Elena Elliot-Smith; Dan J Sillence; Grant C Churchill; Edward H Schuchman; Antony Galione; Frances M Platt
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.
Nature medicine 2008;14(11):1247-55.
2008: Iwan Jones; Xingxuan He; Fourogh Katouzian; Peter I Darroch; Edward H Schuchman
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
Molecular genetics and metabolism 2008;95(3):152-62.
2008: Federica Scandroglio; Jagadish Kummetha Venkata; Nicoletta Loberto; Simona Prioni; Edward H Schuchman; Vanna Chigorno; Alessandro Prinetti; Sandro Sonnino
Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice.
Journal of neurochemistry 2008;107(2):329-38.
2008: Cecilia M Devlin; Andrew R Leventhal; George Kuriakose; Edward H Schuchman; Kevin Jon Williams; Ira Tabas
Acid sphingomyelinase promotes lipoprotein retention within early atheromata and accelerates lesion progression.
Arteriosclerosis, thrombosis, and vascular biology 2008;28(10):1723-30.
2008: Eric L Smith; Edward H Schuchman
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 2008;22(10):3419-31.
2008: Eric L Smith; Edward H Schuchman
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 2008;16(9):1565-71.
2008: Silvia Muro; Carmen Garnacho; Julie A Champion; John Leferovich; Christine Gajewski; Edward H Schuchman; Samir Mitragotri; Vladimir R Muzykantov
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 2008;16(8):1450-8.
2008: Carmen Garnacho; Rajwinder Dhami; Eric Simone; Thomas Dziubla; John Leferovich; Edward H Schuchman; Vladimir R Muzykantov; Silvia Muro
Delivery of acid sphingomyelinase in normal and niemann-pick disease mice using intercellular adhesion molecule-1-targeted polymer nanocarriers.
The Journal of pharmacology and experimental therapeutics 2008;325(2):400-8.
2008: Nataly Shtraizent; Efrat Eliyahu; Jae-Ho Park; Xingxuan He; Ruth Shalgi; Edward H Schuchman
Autoproteolytic cleavage and activation of human acid ceramidase.
The Journal of biological chemistry 2008;283(17):11253-9.
2008: Calogera M Simonaro; Marina D'Angelo; Xingxuan He; Efrat Eliyahu; Nataly Shtraizent; Mark E Haskins; Edward H Schuchman
Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases.
The American journal of pathology 2008;172(1):112-22.
2008: Levi G Ledgerwood; Girdhari Lal; Nan Zhang; Alexandre Garin; Steven J Esses; Ginhoux Florent; Miriam Merad; Helene Peche; sergio lira; Yaozhong Ding; Yu Yang; Xingxuan He; Edward H Schuchman; Maria Allende; Jordi C Ochando; Jonathan Bromberg
The sphingosine 1-phosphate receptor 1 causes tissue retention by inhibiting the entry of peripheral tissue T lymphocytes into afferent lymphatics.
Nature immunology 2008;9(1):42-53.
2007: Maria Fotoulaki; Edward H Schuchman; Calogera M Simonaro; Persefoni Augoustides-Savvopoulou; Helen M Michelakakis; Paraskevi Panagopoulou; George Varlamis; Sanda Nousia-Arvanitakis
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.
Journal of inherited metabolic disease 2007;30(6):986.
2007: Wendy W Yang; James C Dodge; Marco A Passini; Tatyana V Taksir; Denise Griffiths; Edward H Schuchman; Seng Cheng; Lamya S Shihabuddin
Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouse.
Experimental neurology 2007;207(2):258-66.
2007: Edward H Schuchman
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
Journal of inherited metabolic disease 2007;30(5):654-63.
2007: Cristiana Perrotta; Laura Bizzozero; sestina Falcone; Patrizia Rovere-Querini; Alessandro Prinetti; Edward H Schuchman; Sandro Sonnino; angelo manfredi; Emilio Clementi
Nitric oxide boosts chemoimmunotherapy via inhibition of acid sphingomyelinase in a mouse model of melanoma.
Cancer research 2007;67(16):7559-64.
2007: N Matthew Ellinwood; Marie-Anne Colle; Margaret A Weil; Margret L Casal; Charles H Vite; Staci P Wiemelt; Christopher W Hasson; Thomas M O'Malley; Xingxuan He; Ulana Prociuk; Lucie Verot; John R Melniczek; Anne Lannon; Gustavo D Aguirre; Van W Knox; Sydney Evans; marie T vanier; Edward H Schuchman; Steven U Walkley; Mark E Haskins
Bone marrow transplantation for feline mucopolysaccharidosis I.
Molecular genetics and metabolism 2007;91(3):239-50.
2007: Avigdor Butler; Ronald E Gordon; Shimon Gatt; Edward H Schuchman
Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases.
The American journal of pathology 2007;170(6):2077-88.
2007: Marco A Passini; Jie Bu; Jonathan A Fidler; Robin J Ziegler; Joseph W Foley; James C Dodge; Wendy W Yang; Jennifer Clarke; Tatyana V Taksir; Denise A Griffiths; Michael A Zhao; Catherine R O'Riordan; Edward H Schuchman; Lamya S Shihabuddin; Seng Cheng
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 2007;104(22):9505-10.
2007: Jae-Sung Bae; Hyung Soo Han; Dong H Youn; Janet E Carter; Michel Modo; Edward H Schuchman; Hee Kyung Jin
Bone marrow-derived mesenchymal stem cells promote neuronal networks with functional synaptic transmission after transplantation into mice with neurodegeneration.
Stem cells (Dayton, Ohio) 2007;25(5):1307-16.
2007: Efrat Eliyahu; Jae-Ho Park; Nataly Shtraizent; Xingxuan He; Edward H Schuchman
Acid ceramidase is a novel factor required for early embryo survival.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007;21(7):1403-9.
2006: Jae-Ho Park; Edward H Schuchman
Acid ceramidase and human disease.
Biochimica et biophysica acta 2006;1758(12):2133-8.
2006: Calogera M Simonaro; Jae-Ho Park; Efrat Eliyahu; Nataly Shtraizent; Margaret M McGovern; Edward H Schuchman
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
American journal of human genetics 2006;78(5):865-70.
2006: Rajwinder Dhami; Marco A Passini; Edward H Schuchman
Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice.
Molecular therapy : the journal of the American Society of Gene Therapy 2006;13(3):556-64.
2006: Silvia Muro; Edward H Schuchman; Vladimir R Muzykantov
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 2006;13(1):135-41.
2005: Jae-Ho Park; Efrat Eliyahu; Goutham Narla; Analisa Difeo; John A Martignetti; Edward H Schuchman
KLF6 is one transcription factor involved in regulating acid ceramidase gene expression.
Biochimica et biophysica acta 2005;1732(1-3):82-7.
2005: James C Dodge; Jennifer Clarke; Antonius Song; Jie Bu; Wendy Yang; Tatyana V Taksir; Denise Griffiths; Michael A Zhao; Edward H Schuchman; Seng Cheng; Catherine R O'Riordan; Lamya S Shihabuddin; Marco A Passini; Gregory R Stewart
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 2005;102(49):17822-7.
2005: Peter I Darroch; Arie Dagan; Tami Granot; Xingxuan He; Shimon Gatt; Edward H Schuchman
A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell death.
Journal of lipid research 2005;46(11):2315-24.
2005: Christine Barbon; Robin J Ziegler; Chester Li; Donna Armentano; Maribeth Cherry; Robert J Desnick; Edward H Schuchman; Seng Cheng
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 2005;12(3):431-40.
2005: Jae-Sung Bae; Shigeki Furuya; Yoko Shinoda; Shogo Endo; Edward H Schuchman; Yoshio Hirabayashi; Hee Kyung Jin
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 2005;16(8):1006-11.
2005: Ikuko Takahashi; Tsutomu Takahashi; Tamaki Mikami; Masaki Komatsu; Toshihiro Ohura; Edward H Schuchman; Goro Takada
Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity.
The Tohoku journal of experimental medicine 2005;206(4):333-40.
2005: Marco A Passini; Shannon L Macauley; Michael R Huff; Tatyana V Taksir; Jie Bu; I-Huan Wu; Peter A Piepenhagen; James C Dodge; Lamya S Shihabuddin; Catherine R O'Riordan; Edward H Schuchman; Gregory R Stewart
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 2005;11(5):754-62.
2005: Xingxuan He; Arie Dagan; Shimon Gatt; Edward H Schuchman
Simultaneous quantitative analysis of ceramide and sphingosine in mouse blood by naphthalene-2,3-dicarboxyaldehyde derivatization after hydrolysis with ceramidase.
Analytical biochemistry 2005;340(1):113-22.
2005: Calogera M Simonaro; Marina D'Angelo; Mark E Haskins; Edward H Schuchman
Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models.
Pediatric research 2005;57(5 Pt 1):701-7.
2005: Avigdor Butler; Scott C Henderson; Ronald E Gordon; Arie Dagan; Shimon Gatt; Edward H Schuchman
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 2005;28(1):1-12.
2004: Ali Hellani; Edward H Schuchman; Ali N Al Odaib; Aida Al Aqueel; Kamal Jaroudi; Pinar T Ozand; Serdar Coskun
Preimplantation genetic diagnosis for Niemann-Pick disease type B.
Prenatal diagnosis 2004;24(12):943-8.
2004: Melissa P Wasserstein; Robert J Desnick; Edward H Schuchman; Sabera Hossain; Sylvan Wallenstein; Carin Lamm; Margaret M McGovern
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
Pediatrics 2004;114(6):e672-7.
2004: Margaret M McGovern; Tilla Pohl-Worgall; Richard J Deckelbaum; William Simpson; David S Mendelson; Robert J Desnick; Edward H Schuchman; Melissa P Wasserstein
Lipid abnormalities in children with types A and B Niemann Pick disease.
The Journal of pediatrics 2004;145(1):77-81.
2004: Margaret M McGovern; Melissa P Wasserstein; Alan Aron; Robert J Desnick; Edward H Schuchman; Scott E Brodie
Ocular manifestations of Niemann-Pick disease type B.
Ophthalmology 2004;111(7):1424-7.
2004: Yunxiang Zhu; Xuemei Li; Edward H Schuchman; Robert J Desnick; Seng Cheng
Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages.
The Journal of pharmacology and experimental therapeutics 2004;308(2):705-11.
2004: Rajwinder Dhami; Edward H Schuchman
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy.
The Journal of biological chemistry 2004;279(2):1526-32.
2003: Hee Kyung Jin; Edward H Schuchman
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 : the journal of the American Society of Gene Therapy 2003;8(6):876-85.
2003: Xingxuan He; Nozomu Okino; Rajwinder Dhami; Arie Dagan; Shimon Gatt; Heike Schulze; Konrad Sandhoff; Edward H Schuchman
Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase.
The Journal of biological chemistry 2003;278(35):32978-86.
2003: Nozomu Okino; Xingxuan He; Shimon Gatt; Konrad Sandhoff; Makoto Ito; Edward H Schuchman
The reverse activity of human acid ceramidase.
The Journal of biological chemistry 2003;278(32):29948-53.
2003: Melissa P Wasserstein; Alexandra E Larkin; Ronald B J Glass; Edward H Schuchman; Robert J Desnick; Margaret M McGovern
Growth restriction in children with type B Niemann-Pick disease.
The Journal of pediatrics 2003;142(4):424-8.
2003: Xingxuan He; Fei Chen; Arie Dagan; Shimon Gatt; Edward H Schuchman
A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease.
Analytical biochemistry 2003;314(1):116-20.
2003: Machiko Ikegami; Rajwinder Dhami; Edward H Schuchman
Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease.
American journal of physiology. Lung cellular and molecular physiology 2003;284(3):L518-25.
2002: Robert J Desnick; Edward H Schuchman
Enzyme replacement and enhancement therapies: lessons from lysosomal disorders.
Nature reviews. Genetics 2002;3(12):954-66.
2002: Calogera M Simonaro; Robert J Desnick; Margaret M McGovern; Melissa P Wasserstein; Edward H Schuchman
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
American journal of human genetics 2002;71(6):1413-9.
2002: Avigdor Butler; Xingxuan He; Ronald E Gordon; Hai-Shan Wu; Shimon Gatt; Edward H Schuchman
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice.
The American journal of pathology 2002;161(3):1061-75.
2002: Xingxuan He; Fei Chen; Margaret M McGovern; Edward H Schuchman
A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism.
Analytical biochemistry 2002;306(1):115-23.
2002: Hee Kyung Jin; Janet E Carter; George W Huntley; Edward H Schuchman
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 2002;109(9):1183-91.
2002: Chi-Ming Li; Jae-Ho Park; Calogera M Simonaro; Xingxuan He; Ronald E Gordon; Adriana Haimovitz-Friedman; Desiree Ehleiter; François Paris; Katia Manova-Todorova; Stefan Hepbildikler; Zvi Fuks; Konrad Sandhoff; Richard Kolesnick; Edward H Schuchman; Stefan Hepbiloikler
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes.
Genomics 2002;79(2):218-24.
2001: Klaus Ferlinz; G Kopal; Katussevani Bernardo; Thomas Linke; J Bar; B Breiden; U Neumann; Florian Lang; Edward H Schuchman; Konrad Sandhoff
Human acid ceramidase: processing, glycosylation, and lysosomal targeting.
The Journal of biological chemistry 2001;276(38):35352-60.
2001: Calogera M Simonaro; Mark E Haskins; Edward H Schuchman
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; a journal of technical methods and pathology 2001;81(9):1319-28.
2001: Rajwinder Dhami; Xingxuan He; Ronald E Gordon; Edward H Schuchman
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease.
Laboratory investigation; a journal of technical methods and pathology 2001;81(7):987-99.
2001: Xingxuan He; Fei Chen; Shimon Gatt; Edward H Schuchman
An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease.
Analytical biochemistry 2001;293(2):204-11.
2001: Justyna R Sarna; S R Miranda; Edward H Schuchman; Richard Hawkes
Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease.
The European journal of neuroscience 2001;13(10):1873-80.
2001: E D Kakkis; Edward H Schuchman; Xingxuan He; Qiang Wan; S Kania; Staci P Wiemelt; Christopher W Hasson; Thomas M O'Malley; Margaret A Weil; G A Aguirre; DE Brown; Mark E Haskins
Enzyme replacement therapy in feline mucopolysaccharidosis I.
Molecular genetics and metabolism 2001;72(3):199-208.
2001: J Bär; Thomas Linke; Klaus Ferlinz; U Neumann; Edward H Schuchman; Konrad Sandhoff
Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
Human mutation 2001;17(3):199-209.
2001: Thomas Linke; G Wilkening; Farsaneh Sadeghlar; H Mozcall; Katussevani Bernardo; Edward H Schuchman; Konrad Sandhoff
Interfacial regulation of acid ceramidase activity. Stimulation of ceramide degradation by lysosomal lipids and sphingolipid activator proteins.
The Journal of biological chemistry 2001;276(8):5760-8.
2000: SR Miranda; S Erlich; Victor L Friedrich; Shimon Gatt; Edward H Schuchman
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 2000;7(20):1768-76.
2000: SR Miranda; Xingxuan He; Calogera M Simonaro; Shimon Gatt; Arie Dagan; Robert J Desnick; Edward H Schuchman
Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2000;14(13):1988-95.
2000: Y Morita; Gloria I Perez; François Paris; S R Miranda; Desiree Ehleiter; Adriana Haimovitz-Friedman; Zvi Fuks; Z Xie; J C Reed; Edward H Schuchman; Richard Kolesnick; Jonathan L Tilly
Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy.
Nature medicine 2000;6(10):1109-14.
2000: Sudhir Marathe; S R Miranda; Cecilia M Devlin; A Johns; George Kuriakose; Kevin Jon Williams; Edward H Schuchman; Ira Tabas
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 2000;9(13):1967-76.
2000: T Lin; Laurent Genestier; Michael J Pinkoski; A Castro; S Nicholas; R Mogil; François Paris; Zvi Fuks; Edward H Schuchman; Richard Kolesnick; D R Green
Role of acidic sphingomyelinase in Fas/CD95-mediated cell death.
The Journal of biological chemistry 2000;275(12):8657-63.
2000: Edward H Schuchman; S Erlich; SR Miranda; Tama Dinur; Arie Dagan; Shimon Gatt
Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression.
Methods in enzymology 2000;312():330-8.
1999: S B Hong; Chi-Ming Li; H J Rhee; Jae-Ho Park; Xingxuan He; Brynn Levy; O J Yoo; Edward H Schuchman
Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein.
Genomics 1999;62(2):232-41.
1999: Chi-Ming Li; Jae-Ho Park; Xingxuan He; Brynn Levy; F Chen; K Arai; DA Adler; Christine M Disteche; J Koch; Konrad Sandhoff; Edward H Schuchman
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.
Genomics 1999;62(2):223-31.
1999: Edward H Schuchman
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases.
Chemistry and physics of lipids 1999;102(1-2):179-88.
1999: Xingxuan He; Chi-Ming Li; Jae-Ho Park; Arie Dagan; Shimon Gatt; Edward H Schuchman
A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activity.
Analytical biochemistry 1999;274(2):264-9.
1999: Xingxuan He; SR Miranda; X Xiong; Arie Dagan; Shimon Gatt; Edward H Schuchman
Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells.
Biochimica et biophysica acta 1999;1432(2):251-64.
1999: Xingxuan He; Chi-Ming Li; Calogera M Simonaro; Qiang Wan; Mark E Haskins; Robert J Desnick; Edward H Schuchman
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
Molecular genetics and metabolism 1999;67(2):106-12.
1999: Calogera M Simonaro; Mark E Haskins; J L Abkowitz; D A Brooks; J J Hopwood; J Zhang; Edward H Schuchman
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 1999;6(1):107-13.
1999: S Erlich; SR Miranda; JW Visser; Arie Dagan; Shimon Gatt; Edward H Schuchman
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;93(1):80-6.
1998: SL Schissel; G A Keesler; Edward H Schuchman; Kevin Jon Williams; Ira Tabas
The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase gene.
The Journal of biological chemistry 1998;273(29):18250-9.
1998: Chi-Ming Li; S B Hong; G Kopal; Xingxuan He; Thomas Linke; Wu-Shiun Hou; J Koch; Shimon Gatt; Konrad Sandhoff; Edward H Schuchman
Cloning and characterization of the full-length cDNA and genomic sequences encoding murine acid ceramidase.
Genomics 1998;50(2):267-74.
1998: SR Miranda; S Erlich; Victor L Friedrich; Mark E Haskins; Shimon Gatt; Edward H Schuchman
Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice.
Transplantation 1998;65(7):884-92.
1997: Adriana Haimovitz-Friedman; Carlos Cordon-Cardo; S Bayoumy; Mark Garzotto; M McLoughlin; R Gallily; C K Edwards; Edward H Schuchman; Zvi Fuks; Richard Kolesnick
Lipopolysaccharide induces disseminated endothelial apoptosis requiring ceramide generation.
The Journal of experimental medicine 1997;186(11):1831-41.
1997: SR Miranda; S Erlich; JW Visser; Shimon Gatt; Arie Dagan; Victor L Friedrich; Edward H Schuchman
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;90(1):444-52.
1997: Calogera M Simonaro; Mark E Haskins; T Kunieda; S M Evans; JW Visser; Edward H Schuchman
Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings.
Transplantation 1997;63(10):1386-93.
1997: Klaus Ferlinz; R Hurwitz; H Moczall; Stephanie Lansmann; Edward H Schuchman; Konrad Sandhoff
Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis.
European journal of biochemistry / FEBS 1997;243(1-2):511-7.
1997: Edward H Schuchman; SR Miranda
Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing.
Genetic testing 1997;1(1):13-9.
1996: J Koch; S Gärtner; Chi-Ming Li; L E Quintern; K Bernardo; O Levran; D Schnabel; Robert J Desnick; Edward H Schuchman; Konrad Sandhoff
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.
The Journal of biological chemistry 1996;271(51):33110-5.
1996: C Fillat; Calogera M Simonaro; P L Yeyati; J L Abkowitz; M E Haskins; Edward H Schuchman
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.
The Journal of clinical investigation 1996;98(2):497-502.
1995: Calogera M Simonaro; Edward H Schuchman
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Biochimica et biophysica acta 1995;1272(3):129-32.
1995: T Kunieda; Calogera M Simonaro; M Yoshida; H Ikadai; G Levan; Robert J Desnick; Edward H Schuchman
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.
Genomics 1995;29(3):582-7.
1995: Tsutomu Takahashi; M Suchi; W Sato; S B Ten; N Sakuragawa; Robert J Desnick; Edward H Schuchman; Goro Takada
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 1995;177(2):117-23.
1995: P L Yeyati; V Agmon; C Fillat; Tama Dinur; Arie Dagan; Robert J Desnick; Shimon Gatt; Edward H Schuchman
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 1995;6(8):975-83.
1995: K Horinouchi; S Erlich; Daniel P Perl; Klaus Ferlinz; C L Bisgaier; Konrad Sandhoff; Robert J Desnick; C L Stewart; Edward H Schuchman
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.
Nature genetics 1995;10(3):288-93.
1995: K Bernardo; R Hurwitz; T Zenk; Robert J Desnick; Klaus Ferlinz; Edward H Schuchman; Konrad Sandhoff
Purification, characterization, and biosynthesis of human acid ceramidase.
The Journal of biological chemistry 1995;270(19):11098-102.
1995: Qiang Wan; Edward H Schuchman
A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region.
Biochimica et biophysica acta 1995;1270(2-3):207-10.
1995: Edward H Schuchman
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.
Human mutation 1995;6(4):352-4.
1993: K Horinouchi; T Sakiyama; Lygia Pereira; P A Lalley; Edward H Schuchman
Mouse models of Niemann-Pick disease: mutation analysis and chromosomal mapping rule out the type A and B forms.
Genomics 1993;18(2):450-1.
1993: O Levran; Robert J Desnick; Edward H Schuchman
Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.
Human molecular genetics 1993;2(2):205-6.
1993: O Levran; Robert J Desnick; Edward H Schuchman
Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.
Human mutation 1993;2(4):317-9.
1992: Tama Dinur; Edward H Schuchman; Eitan Fibach; Arie Dagan; M Suchi; Robert J Desnick; Shimon Gatt
Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin.
Human gene therapy 1992;3(6):633-9.
1992: O Levran; Robert J Desnick; Edward H Schuchman
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;80(8):2081-7.
1992: C E Jackson; N Yuhki; Robert J Desnick; M E Haskins; S J O'Brien; Edward H Schuchman
Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1.
Genomics 1992;14(2):403-11.
1992: Tsutomu Takahashi; M Suchi; Robert J Desnick; Goro Takada; Edward H Schuchman
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.
The Journal of biological chemistry 1992;267(18):12552-8.
1992: M Suchi; Tama Dinur; Robert J Desnick; Shimon Gatt; Lygia Pereira; Eli Gilboa; Edward H Schuchman
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 1992;89(8):3227-31.
1992: W D Jin; C E Jackson; Robert J Desnick; Edward H Schuchman
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.
American journal of human genetics 1992;50(4):795-800.
1992: Edward H Schuchman; O Levran; Lygia Pereira; Robert J Desnick
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).
Genomics 1992;12(2):197-205.
1992: T Takahashi; Robert J Desnick; G Takada; Edward H Schuchman
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.
Human mutation 1992;1(1):70-1.
1991: O Levran; Robert J Desnick; Edward H Schuchman
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.
The Journal of clinical investigation 1991;88(3):806-10.
1991: W D Jin; Robert J Desnick; Edward H Schuchman
A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14.
Nucleic acids research 1991;19(15):4305.
1991: Edward H Schuchman; O Levran; M Suchi; Robert J Desnick
An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1).
Nucleic acids research 1991;19(11):3160.
1991: Edward H Schuchman; M Suchi; Tsutomu Takahashi; Konrad Sandhoff; Robert J Desnick
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.
The Journal of biological chemistry 1991;266(13):8531-9.
1991: O Levran; Robert J Desnick; Edward H Schuchman
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 1991;88(9):3748-52.
1991: L da Veiga Pereira; Robert J Desnick; D A Adler; C M Disteche; Edward H Schuchman
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;9(2):229-34.
1990: Edward H Schuchman; C E Jackson; Robert J Desnick
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;6(1):149-58.
1989: L E Quintern; Edward H Schuchman; O Levran; M Suchi; Klaus Ferlinz; H Reinke; Konrad Sandhoff; Robert J Desnick
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.
The EMBO journal 1989;8(9):2469-73.
1989: Edward H Schuchman; S J O'Brien; Robert J Desnick
Assignment of the feline alpha-L-iduronidase gene to chromosome D4.
Genomics 1989;4(3):442-4.
1989: Edward H Schuchman; T K Toroyan; M E Haskins; Robert J Desnick
Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII.
Enzyme 1989;42(3):174-80.
1988: Edward H Schuchman; Robert J Desnick
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
The Journal of clinical investigation 1988;81(1):98-105.