sphingomyelin phosphodiesterase 1 ; Homo sapiens






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1 1391960 Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood 1992 Oct 15 3
2 1482703 Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin. Hum Gene Ther 1992 Dec 1
3 1565614 Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells. Proc Natl Acad Sci U S A 1992 Apr 15 1
4 1618760 Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. J Biol Chem 1992 Jun 25 3
5 1740330 Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 1992 Feb 8
6 1885770 Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J Clin Invest 1991 Sep 1
7 2004772 Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. Genomics 1991 Feb 5
8 2023926 Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A 1991 May 1 3
9 2380243 Sorting of an internalized plasma membrane lipid between recycling and degradative pathways in normal and Niemann-Pick, type A fibroblasts. J Cell Biol 1990 Aug 4
10 2419314 Reduction of acid sphingomyelinase activity in human fibroblasts induced by AY-9944 and other cationic amphiphilic drugs. J Biochem 1985 Dec 2
11 2541739 Purification to homogeneity of human placental acid sphingomyelinase. Biotechnol Appl Biochem 1989 Apr 1
12 2555181 Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. EMBO J 1989 Sep 2
13 2825797 Acid sphingomyelinase from human urine: purification and characterization. Biochim Biophys Acta 1987 Dec 14 5
14 3040755 Effects of gentamicin on sphingomyelinase activity in cultured human renal proximal tubular cells. J Biol Chem 1987 Sep 15 5
15 3139926 Evidence for both endogenous and exogenous sources of the sphingomyelin storage in lymphoid cell lines from patients with Niemann-Pick disease types A and B. J Inherit Metab Dis 1988 1
16 3802501 Automated enzymatic measurement of lecithin, sphingomyelin, and phosphatidylglycerol in amniotic fluid. Clin Chem 1987 Jan 2
17 6260779 Acid sphingomyelinase of human brain. Improved purification procedures and characterization. J Biol Chem 1981 Apr 25 2
18 6281387 Acid sphingomyelinase of human brain: purification to homogeneity. J Neurochem 1982 Jun 16
19 6292172 Acid sphingomyelinase of human placenta: purification, properties, and 125iodine labeling. J Biochem 1982 Sep 2
20 6304255 Comparative hydrolysis of sphingomyelin and 2-N-(hexadecanoyl)-amino-4-nitrophenyl-phosphorylcholine by normal human brain homogenate at acid and neutral pH. J Neurochem 1983 Jun 3
21 6869839 An improved method excluding hemoglobin interferences for lysosomal hydrolase assays using colorimetric synthetic substrates, 2-(N-hexadecanoylamino)-4-nitrophenol derivatives. Anal Biochem 1983 Apr 15 1
22 7727545 A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region. Biochim Biophys Acta 1995 Apr 24 8
23 7759998 CD28 signals through acidic sphingomyelinase. J Exp Med 1995 Jun 1 2
24 7945993 The tricyclic antidepressant desipramine causes proteolytic degradation of lysosomal sphingomyelinase in human fibroblasts. Biol Chem Hoppe Seyler 1994 Jul 2
25 8051547 Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells. J Neurochem 1994 Sep 1
26 8053910 Occurrence of two molecular forms of human acid sphingomyelinase. Biochem J 1994 Aug 1 5
27 8225311 Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Hum Genet 1993 Oct 2
28 8407868 Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive. J Biochem 1993 Jul 1
29 8530143 TNF-induced activation of NF-kappa B. Immunobiology 1995 Jul 4
30 8577061 [Medicinal therapy for lysosomal storage diseases]. Nihon Rinsho 1995 Dec 1
31 8663014 A novel cytoplasmic domain of the p55 tumor necrosis factor receptor initiates the neutral sphingomyelinase pathway. J Biol Chem 1996 Jun 14 2
32 8667607 Mechanism of the thesaurismosis and altered lysosomal dynamics induced by poly-D-glutamic acid in kidney proximal tubular cells. Lab Invest 1996 Jun 1
33 8702487 Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene. J Biol Chem 1996 Aug 2 1
34 8846779 Multiple pathways originate at the Fas/APO-1 (CD95) receptor: sequential involvement of phosphatidylcholine-specific phospholipase C and acidic sphingomyelinase in the propagation of the apoptotic signal. EMBO J 1995 Dec 1 5
35 8985151 Purification of acid sphingomyelinase from human placenta: characterization and N-terminal sequence. FEBS Lett 1996 Dec 16 5
36 9030779 Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis. Eur J Biochem 1997 Jan 15 3
37 9393854 Acidic sphingomyelinase mediates entry of N. gonorrhoeae into nonphagocytic cells. Cell 1997 Nov 28 4
38 9500792 Acidic sphingomyelinase (ASM) is necessary for fas-induced GD3 ganglioside accumulation and efficient apoptosis of lymphoid cells. J Exp Med 1998 Mar 16 3
39 9516458 CD95 (Fas/APO-1) induces ceramide formation and apoptosis in the absence of a functional acid sphingomyelinase. J Biol Chem 1998 Mar 27 4
40 9596684 Increases in neutral, Mg2+-dependent and acidic, Mg2+-independent sphingomyelinase activities precede commitment to apoptosis and are not a consequence of caspase 3-like activity in Molt-4 cells in response to thymidylate synthase inhibition by GW1843. Blood 1998 Jun 1 1
41 9649498 Inhibition of the anti-apoptotic PI(3)K/Akt/Bad pathway by stress. Genes Dev 1998 Jul 1 1
42 9864149 Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures. Blood 1999 Jan 1 1
43 10227986 Signaling through CD5 involves acidic sphingomyelinase, protein kinase C-zeta, mitogen-activated protein kinase kinase, and c-Jun NH2-terminal kinase. J Immunol 1999 May 1 6
44 10508159 Cathepsin D targeted by acid sphingomyelinase-derived ceramide. EMBO J 1999 Oct 1 2
45 10821424 Characterization of sphingomyelinase activity released by thrombin-stimulated platelets. Mol Cell Biochem 2000 Feb 3
46 10849758 Ceramide as an activator lipid of cathepsin D. Adv Exp Med Biol 2000 1
47 10869289 Human placenta sphingomyelinase, an exogenous acidic pH-optimum sphingomyelinase, induces oxidative stress, glutathione depletion, and apoptosis in rat hepatocytes. Hepatology 2000 Jul 1
48 10930579 Acid sphingomyelinase is involved in CEACAM receptor-mediated phagocytosis of Neisseria gonorrhoeae. FEBS Lett 2000 Aug 4 3
49 10951284 Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis. J Invest Dermatol 2000 Sep 7
50 11128869 Distribution of acid sphingomyelinase in human various body fluids. Tohoku J Exp Med 2000 Sep 7