[cite web | title = Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6609| accessdate = ] Defects in SMPD1 gene cause Niemann-Pick disease type A.] PBB_Summary
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References
Further reading
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citations =
*cite journal | author=Stoffel W |title=Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo. |journal=Chem. Phys. Lipids |volume=102 |issue= 1-2 |pages= 107–21 |year= 2000 |pmid= 11001565 |doi=
*cite journal | author=Newrzella D, Stoffel W |title=Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene. |journal=Biol. Chem. Hoppe-Seyler |volume=373 |issue= 12 |pages= 1233–8 |year= 1993 |pmid= 1292508 |doi=
*cite journal | author=Takahashi T, Desnick RJ, Takada G, Schuchman EH |title=Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. |journal=Hum. Mutat. |volume=1 |issue= 1 |pages= 70–1 |year= 1993 |pmid= 1301192 |doi= 10.1002/humu.1380010111
*cite journal | author=Levran O, Desnick RJ, Schuchman EH |title=Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. |journal=Blood |volume=80 |issue= 8 |pages= 2081–7 |year= 1992 |pmid= 1391960 |doi=
*cite journal | author=Takahashi T, Suchi M, Desnick RJ, "et al." |title=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. |journal=J. Biol. Chem. |volume=267 |issue= 18 |pages= 12552–8 |year= 1992 |pmid= 1618760 |doi=
*cite journal | author=Schuchman EH, Levran O, Suchi M, Desnick RJ |title=An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1). |journal=Nucleic Acids Res. |volume=19 |issue= 11 |pages= 3160 |year= 1991 |pmid= 1711683 |doi=
*cite journal | author=Ferlinz K, Hurwitz R, Sandhoff K |title=Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. |journal=Biochem. Biophys. Res. Commun. |volume=179 |issue= 3 |pages= 1187–91 |year= 1991 |pmid= 1718266 |doi=
*cite journal | author=Schuchman EH, Levran O, Pereira LV, Desnick RJ |title=Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). |journal=Genomics |volume=12 |issue= 2 |pages= 197–205 |year= 1992 |pmid= 1740330 |doi=
*cite journal | author=Schuchman EH, Suchi M, Takahashi T, "et al." |title=Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. |journal=J. Biol. Chem. |volume=266 |issue= 13 |pages= 8531–9 |year= 1991 |pmid= 1840600 |doi=
*cite journal | author=Levran O, Desnick RJ, Schuchman EH |title=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. |journal=J. Clin. Invest. |volume=88 |issue= 3 |pages= 806–10 |year= 1991 |pmid= 1885770 |doi=
*cite journal | author=da Veiga Pereira L, Desnick RJ, Adler DA, "et al." |title=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. |journal=Genomics |volume=9 |issue= 2 |pages= 229–34 |year= 1991 |pmid= 2004772 |doi=
*cite journal | author=Levran O, Desnick RJ, Schuchman EH |title=Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 9 |pages= 3748–52 |year= 1991 |pmid= 2023926 |doi=
*cite journal | author=Quintern LE, Schuchman EH, Levran O, "et al." |title=Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. |journal=EMBO J. |volume=8 |issue= 9 |pages= 2469–73 |year= 1989 |pmid= 2555181 |doi=
*cite journal | author=Horinouchi K, Erlich S, Perl DP, "et al." |title=Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. |journal=Nat. Genet. |volume=10 |issue= 3 |pages= 288–93 |year= 1995 |pmid= 7670466 |doi= 10.1038/ng0795-288
*cite journal | author=Sperl W, Bart G, Vanier MT, "et al." |title=A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. |journal=J. Inherit. Metab. Dis. |volume=17 |issue= 1 |pages= 93–103 |year= 1994 |pmid= 8051942 |doi=
*cite journal | author=Ida H, Rennert OM, Eto Y, Chan WY |title=Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive. |journal=J. Biochem. |volume=114 |issue= 1 |pages= 15–20 |year= 1993 |pmid= 8407868 |doi=
*cite journal | author=Ida H, Rennert OM, Maekawa K, Eto Y |title=Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. |journal=Hum. Mutat. |volume=7 |issue= 1 |pages= 65–7 |year= 1996 |pmid= 8664904 |doi= 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q
*cite journal | author=Schuchman EH |title=Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. |journal=Hum. Mutat. |volume=6 |issue= 4 |pages= 352–4 |year= 1996 |pmid= 8680412 |doi= 10.1002/humu.1380060412
*cite journal | author=Takahashi T, Suchi M, Sato W, "et al." |title=Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. |journal=Tohoku J. Exp. Med. |volume=177 |issue= 2 |pages= 117–23 |year= 1996 |pmid= 8693491 |doi=
*cite journal | author=Ferlinz K, Hurwitz R, Moczall H, "et al." |title=Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis. |journal=Eur. J. Biochem. |volume=243 |issue= 1-2 |pages= 511–7 |year= 1997 |pmid= 9030779 |doi=
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