Sequence of ASM_HUMAN

sphingomyelin phosphodiesterase

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Human chromosome 11 DNA sequence and analysis including novel gene identification.

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Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis.

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Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene.

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Simonaro C.M.,Desnick R.J.,McGovern M.M.,Wasserstein M.P.,Schuchman E.H.

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Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.

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Rodriguez-Pascau L.,Gort L.,Schuchman E.H.,Vilageliu L.,Grinberg D.,Chabas A.

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Hum. Mutat.

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Desnick J.P.,Kim J.,He X.,Wasserstein M.P.,Simonaro C.M.,Schuchman E.H.

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Jenkins R.W.,Idkowiak-Baldys J.,Simbari F.,Canals D.,Roddy P.,Riner C.D.,Clarke C.J.,Hannun Y.A.

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Meersseman W.,Verschueren P.,Tousseyn T.,De Vos R.,Cassiman D.

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Toth B.,Erdos M.,Szekely A.,Ritli L.,Bagossi P.,Suemegi J.,Marodi L.

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Irun P.,Mallen M.,Dominguez C.,Rodriguez-Sureda V.,Alvarez-Sala L.A.,Arslan N.,Bermejo N.,Guerrero C.,Perez de Soto I.,Villalon L.,Giraldo P.,Pocovi M.

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The acid sphingomyelinase sequence variant p.A487V is not associated with decreased levels of enzymatic activity.

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Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

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Zampieri S.,Filocamo M.,Pianta A.,Lualdi S.,Gort L.,Coll M.J.,Sinnott R.,Geberhiwot T.,Bembi B.,Dardis A.

SMPD1 mutation update: database and comprehensive analysis of published and novel variants.

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Rhein C.,Muehle C.,Kornhuber J.,Reichel M.

Alleged detrimental mutations in the SMPD1 gene in patients with Niemann-Pick disease.

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Acuna M.,Castro-Fernandez V.,Latorre M.,Castro J.,Schuchman E.H.,Guixe V.,Gonzalez M.,Zanlungo S.

Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.

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Acuna M.,Martinez P.,Moraga C.,He X.,Moraga M.,Hunter B.,Nuernberg P.,Gutierrez R.A.,Gonzalez M.,Schuchman E.H.,Santos J.L.,Miquel J.F.,Mabe P.,Zanlungo S.

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

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