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

Biochemical and biophysical research communications - 21 Oct 2016

Acuña Mariana, Castro-Fernández Víctor, Latorre Mauricio, Castro Juan, Schuchman Edward H, Guixé Victoria, González Mauricio, Zanlungo Silvana

Abstract excerpt

Niemann-Pick disease (NPD) type A and B are recessive hereditary disorders caused by deficiency in acid sphingomyelinase (ASM). The p.Ala359Asp mutation has been described in several patients but its functional and structural effects in the protein are unknown. In order to characterize this mutation, we modeled the three-dimensional ASM structure using the recent available crystal of the mammalian ASM as a...

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PMID: 27659707
DOI: 10.1016/j.bbrc.2016.09.096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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