The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease
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[1] P. Quinn,et al. Membrane lipid homeostasis. , 2004, Sub-cellular biochemistry.
[2] R. Desnick,et al. Infusion of recombinant human acid sphingomyelinase into Niemann‐Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology , 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[3] John Calvin Reed,et al. Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine -1-phosphate therapy , 2000, Nature Medicine.
[4] R. Desnick,et al. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[5] J. Huber,et al. Alterations in blood-brain barrier ICAM-1 expression and brain microglial activation after lambda-carrageenan-induced inflammatory pain. , 2006, American journal of physiology. Heart and circulatory physiology.
[6] J. Genest,et al. Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol , 2003, Human Genetics.
[7] C. Devlin,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. , 2000, Human molecular genetics.
[8] E. Schuchman,et al. Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing. , 1997, Genetic testing.
[9] R. Desnick,et al. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). , 1992, Genomics.
[10] R. Desnick,et al. 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. , 1991, The Journal of clinical investigation.
[11] A. Crocker. THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE * , 1961, Journal of neurochemistry.
[12] R. Desnick,et al. Type A Niemann‐Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients , 1993, Human mutation.
[13] K. Sandhoff,et al. Phosphatidylinositol-3,5-Bisphosphate Is a Potent and Selective Inhibitor of Acid Sphingomyelinase , 2003, Biological chemistry.
[14] J. Opitz,et al. Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A. , 1977, American journal of medical genetics.
[15] R. A. Wevers,et al. The frequency of lysosomal storage diseases in The Netherlands , 1999, Human Genetics.
[16] Z. Fuks,et al. Radiation and ceramide-induced apoptosis , 2003, Oncogene.
[17] E. Schuchman,et al. A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell death Published, JLR Papers in Press, September 8, 2005. DOI 10.1194/jlr.M500136-JLR200 , 2005, Journal of Lipid Research.
[18] W. Stoffel,et al. Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease) , 1995, Cell.
[19] R. Desnick,et al. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. , 1991, The Journal of biological chemistry.
[20] R. Desnick,et al. Lipid abnormalities in children with types A and B Niemann Pick disease. , 2004, The Journal of pediatrics.
[21] R. Kolesnick,et al. Raft ceramide in molecular medicine , 2003, Oncogene.
[22] Z. Fuks,et al. Niemann–Pick Disease versus acid sphingomyelinase deficiency , 2001, Cell Death and Differentiation.
[23] R. Desnick,et al. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients , 1992 .
[24] V. Friedrich,et al. Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice. , 1998, Transplantation.
[25] N. Stolf,et al. Niemann-Pick disease in adult: report of a case surgically treated. , 1983, Revista do Hospital das Clínicas.
[26] S. M. Van Patten,et al. Activation of Human Acid Sphingomyelinase through Modification or Deletion of C-terminal Cysteine* , 2003, Journal of Biological Chemistry.
[27] R. Desnick,et al. Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant , 2003, Journal of Inherited Metabolic Disease.
[28] T. Taksir,et al. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[29] F. Lang,et al. Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase , 2004, Biological chemistry.
[30] T. Cox. Substrate reduction therapy for lysosomal storage diseases , 2005, Acta paediatrica (Oslo, Norway : 1992). Supplement.
[31] S. Brodie,et al. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. , 2006, The Journal of pediatrics.
[32] Jeffrey R Marks,et al. Gene Expression Patterns That Characterize Advanced Stage Serous Ovarian Cancers , 2004, The Journal of the Society for Gynecologic Investigation: JSGI.
[33] J. Zeman,et al. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study , 2005, Journal of Inherited Metabolic Disease.
[34] K. Williams,et al. Zn2+-stimulated Sphingomyelinase Is Secreted by Many Cell Types and Is a Product of the Acid Sphingomyelinase Gene* , 1996, The Journal of Biological Chemistry.
[35] M. Bakovic,et al. Lipid rafts in health and disease , 2007, Biology of the cell.
[36] R. Kolesnick,et al. Acid sphingomyelinase-derived ceramide signaling in apoptosis. , 2002, Sub-cellular biochemistry.
[37] X. Lv,et al. D609 blocks cell survival and induces apoptosis in neural stem cells. , 2006, Bioorganic & medicinal chemistry letters.
[38] R. Desnick,et al. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. , 2006, Radiology.
[39] V. Friedrich,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 , 2000, Gene Therapy.
[40] A. Nicholson,et al. Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage. , 2002, American journal of respiratory and critical care medicine.
[41] R. Kolesnick,et al. Regulation of ceramide production and apoptosis. , 1998, Annual review of physiology.
[42] Jae-Ho Park,et al. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. , 2006, American journal of human genetics.
[43] Y. Hannun,et al. The complex life of simple sphingolipids , 2004, EMBO reports.
[44] Q. Wan,et al. A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region. , 1995, Biochimica et biophysica acta.
[45] J. Bertranpetit,et al. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. , 2006, Brain : a journal of neurology.
[46] V. Muzykantov,et al. A novel endocytic pathway induced by clustering endothelial ICAM-1 or PECAM-1 , 2003, Journal of Cell Science.
[47] K. Higaki,et al. [Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. , 1998, Ryoikibetsu shokogun shirizu.
[48] B. Bembi,et al. Treatment of Patients wIth Niemann-Pick Type Is Using Repeated Amniotic Epithelial Cells Implantation: Correction of Aggregation and Coagulation Abnormalities , 1997, Clinical pediatrics.
[49] E. Schuchman,et al. Mannose 6-Phosphate Receptor-mediated Uptake Is Defective in Acid Sphingomyelinase-deficient Macrophages , 2004, Journal of Biological Chemistry.
[50] K. Sandhoff,et al. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa , 1993, Human Genetics.
[51] R. Brady,et al. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. , 1966, Proceedings of the National Academy of Sciences of the United States of America.
[52] P. Meikle,et al. Prevalence of lysosomal storage disorders. , 1999, JAMA.
[53] Jian‐Qiang Fan. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. , 2003, Trends in pharmacological sciences.
[54] Seamus J. Martin,et al. Acid Sphingomyelinase–Deficient Human Lymphoblasts and Mice Are Defective in Radiation-Induced Apoptosis , 1996, Cell.
[55] E. P. Kennedy,et al. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. , 1967, Journal of lipid research.
[56] K. Suzuki,et al. Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. , 1969, American journal of diseases of children.
[57] O. Amaral,et al. Prevalence of lysosomal storage diseases in Portugal , 2004, European Journal of Human Genetics.
[58] R. Desnick,et al. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. , 2002, American journal of human genetics.
[59] V. Muzykantov,et al. Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis. , 2006, Molecular therapy : the journal of the American Society of Gene Therapy.
[60] E. Gulbins,et al. Ceramide, membrane rafts and infections , 2004, Journal of Molecular Medicine.
[61] K. Manova,et al. Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. , 2002, Genomics.
[62] E. Schuchman,et al. Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice. , 2006, Molecular therapy : the journal of the American Society of Gene Therapy.
[63] B. Bembi,et al. Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in‐frame start codon , 2004, Human mutation.
[64] D. Adler,et al. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. , 1999, Genomics.
[65] B. Scaggiante,et al. Successful therapy of Niemann-Pick disease by implantation of human amniotic membrane. , 1987, Transplantation.
[66] E. Schuchman,et al. Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells. , 1999, Biochimica et biophysica acta.
[67] J. Ellingboe,et al. Conformationally constrained N1-arylsulfonyltryptamine derivatives as 5-HT6 receptor antagonists. , 2005, Bioorganic & medicinal chemistry letters.
[68] R. Gordon,et al. Analysis of the Lung Pathology and Alveolar Macrophage Function in the Acid Sphingomyelinase–Deficient Mouse Model of Niemann-Pick Disease , 2001, Laboratory Investigation.
[69] D. Adler,et al. 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. , 1991, Genomics.
[70] R. Desnick,et al. An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1). , 1991, Nucleic acids research.
[71] U. Alon,et al. Transcriptional gene expression profiles of colorectal adenoma, adenocarcinoma, and normal tissue examined by oligonucleotide arrays. , 2001, Cancer research.
[72] R. Desnick,et al. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.
[73] D. Perl,et al. Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease , 1995, Nature Genetics.