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Results: 1-22 |
Results: 22
Molecular analysis of acid ceramidase deficiency in patients with Farber disease
Authors: Bar, J Linke, T Ferlinz, K Neumann, U Schuchman, EH Sandhoff, K
Citation: J. Bar et al., Molecular analysis of acid ceramidase deficiency in patients with Farber disease, HUM MUTAT, 17(3), 2001, pp. 199-209
Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease
Authors: Sarna, J Miranda, SRP Schuchman, EH Hawkes, R
Citation: J. Sarna et al., Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease, EUR J NEURO, 13(10), 2001, pp. 1873-1880
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
Authors: Simonaro, CM Haskins, ME Schuchman, EH
Citation: Cm. Simonaro et al., 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 INV, 81(9), 2001, pp. 1319-1328
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase-deficient mouse model of Niemann-Pick disease
Authors: Dhami, R He, XX Gordon, RE Schuchman, EH
Citation: R. Dhami et al., Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase-deficient mouse model of Niemann-Pick disease, LAB INV, 81(7), 2001, pp. 987-999
Human acid ceramidase - Processing, glycosylation, and lysosomal targeting
Authors: Ferlinz, K Kopal, G Bernardo, K Linke, T Bar, J Breiden, B Neumann, U Lang, F Schuchman, EH Sandhoff, K
Citation: K. Ferlinz et al., Human acid ceramidase - Processing, glycosylation, and lysosomal targeting, J BIOL CHEM, 276(38), 2001, pp. 35352-35360
Gene therapy for neurodegenerative diseases: fact or fiction?
Authors: Carter, JE Schuchman, EH
Citation: Je. Carter et Eh. Schuchman, Gene therapy for neurodegenerative diseases: fact or fiction?, BR J PSYCHI, 178, 2001, pp. 392-394
An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease
Authors: He, XX Chen, F Gatt, S Schuchman, EH
Citation: Xx. He et al., An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease, ANALYT BIOC, 293(2), 2001, pp. 204-211
Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy
Authors: Morita, Y Perez, GI Paris, F Miranda, SR Ehleiter, D Haimovitz-Friedman, A Fuks, Z Xie, ZH Reed, JC Schuchman, EH Kolesnick, RN Tilly, JL
Citation: Y. Morita et al., Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy, NAT MED, 6(10), 2000, pp. 1109-1114
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
Authors: Miranda, SRP Erlich, S Friedrich, VL Gatt, S Schuchman, EH
Citation: Srp. Miranda et al., 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, 7(20), 2000, pp. 1768-1776
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
Authors: Marathe, S Miranda, SRP Devlin, C Johns, A Kuriakose, G Williams, KJ Schuchman, EH Tabas, I
Citation: S. Marathe et al., 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 GEN, 9(13), 2000, pp. 1967-1976
Pivotal role for acidic sphingomyelinase in cerebral ischemia-induced ceramide and cytokine production, and neuronal apoptosis
Authors: Yu, ZF Nikolova-Karakashian, M Zhou, DH Cheng, GJ Schuchman, EH Mattson, MP
Citation: Zf. Yu et al., Pivotal role for acidic sphingomyelinase in cerebral ischemia-induced ceramide and cytokine production, and neuronal apoptosis, J MOL NEURO, 15(2), 2000, pp. 85-97
Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
Authors: Miranda, SRP He, XX Simonaro, CM Gatt, S Dagan, A Desnick, RJ Schuchman, EH
Citation: Srp. Miranda et al., Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology, FASEB J, 14(13), 2000, pp. 1988-1995
Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression
Authors: Schuchman, EH Erlich, S Miranda, SRP Dinur, T Dagan, A Gatt, S
Citation: Eh. Schuchman et al., Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression, METH ENZYM, 312, 2000, pp. 330-338
Role of acidic sphingomyelinase in Fas/CD95-mediated cell death
Authors: Lin, T Genestier, L Pinkoski, MJ Castro, A Nicholas, S Mogil, R Paris, F Fuks, Z Schuchman, EH Kolesnick, RN Green, DR
Citation: T. Lin et al., Role of acidic sphingomyelinase in Fas/CD95-mediated cell death, J BIOL CHEM, 275(12), 2000, pp. 8657-8663
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats
Authors: He, XX Li, CM Simonaro, CM Wan, Q Haskins, ME Desnick, RJ Schuchman, EH
Citation: Xx. He et al., Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats, MOL GEN MET, 67(2), 1999, pp. 106-112
Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation
Authors: Simonaro, CM Haskins, ME Abkowitz, JL Brooks, DA Hopwood, JJ Zhang, J Schuchman, EH
Citation: Cm. Simonaro et al., 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, 6(1), 1999, pp. 107-113
The human acid ceramidase gene (ASAH): Structure, chromosomal location, mutation analysis, and expression
Authors: Li, CM Park, JH He, XX Levy, B Chen, F Arai, K Adler, DA Disteche, CM Koch, J Sandhoff, K Schuchman, EH
Citation: Cm. Li et al., The human acid ceramidase gene (ASAH): Structure, chromosomal location, mutation analysis, and expression, GENOMICS, 62(2), 1999, pp. 223-231
Molecular cloning and characterization of a human cDNA and gene encoding anovel acid ceramidase-like protein
Authors: Hong, SB Li, CM Rhee, HJ Park, JH He, XX Levy, B Yoo, OJ Schuchman, EH
Citation: Sb. Hong et al., Molecular cloning and characterization of a human cDNA and gene encoding anovel acid ceramidase-like protein, GENOMICS, 62(2), 1999, pp. 232-241
Characterization of human acid sphingomyelinase purified from the media ofoverexpressing Chinese hamster ovary cells
Authors: He, XX Miranda, SRP Xiong, XL Dagan, A Gatt, S Schuchman, EH
Citation: Xx. He et al., Characterization of human acid sphingomyelinase purified from the media ofoverexpressing Chinese hamster ovary cells, BBA-PROT ST, 1432(2), 1999, pp. 251-264
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases
Authors: Schuchman, EH
Citation: Eh. Schuchman, Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases, CHEM PHYS L, 102(1-2), 1999, pp. 179-188
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
Authors: Erlich, S Miranda, SRP Visser, JWM Dagan, A Gatt, S Schuchman, EH
Citation: S. Erlich et al., Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: Implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures, BLOOD, 93(1), 1999, pp. 80-86
A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activity
Authors: He, XX Li, CM Park, JH Dagan, A Gatt, S Schuchman, EH
Citation: Xx. He et al., A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activity, ANALYT BIOC, 274(2), 1999, pp. 264-269
Risultati: 1-22 |