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Article

Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S.

The Journal of biological chemistry - 31 Dec 2010

Offman Marc N, Krol Marcin, Silman Israel, Sussman Joel L, Futerman Anthony H

Abstract excerpt

Gaucher disease is caused by the defective activity of the lysosomal hydrolase, glucosylceramidase. Although the x-ray structure of wild type glucosylceramidase has been resolved, little is known about the structural features of any of the >200 mutations. Various treatments for Gaucher disease ar...

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Identifiers

PMID: 20980259
DOI: 10.1074/jbc.M110.172098
PMCID: PMC3009936

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20980259-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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