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Article

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease.

Nature communications - 11 Oct 2016

Zhou Yan-Feng, Metcalf Matthew C, Garman Scott C, Edmunds Tim, Qiu Huawei, Wei Ronnie R

Abstract excerpt

Acid sphingomyelinase (ASM) hydrolyzes sphingomyelin to ceramide and phosphocholine, essential components of myelin in neurons. Genetic alterations in ASM lead to ASM deficiency (ASMD) and have been linked to Niemann-Pick disease types A and B. Olipudase alfa, a recombinant form of human ASM, is being developed as enzyme replacement therapy to treat the non-neurological manifestations of ASMD. Here we present the...

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Identifiers

PMID: 27725636
DOI: 10.1038/ncomms13082
PMCID: PMC5062611

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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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