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Article

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.

The American journal of pathology - 1 Nov 2003

Xu You-Hai, Quinn Brian, Witte David, Grabowski Gregory A

Abstract excerpt

Gaucher disease is an autosomal recessively inherited disease caused by mutations at the acid beta-glucosidase (GCase) locus (GBA). To develop viable models of Gaucher disease, point mutations (pmuts), encoding N370S, V394L, D409H, or D409V were introduced into the mouse GCase (gba) locus. DNA sequencing verified each unique pmut. Mutant GCase mRNAs were near wild-type (WT) levels. GCase activities were reduced...

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Identifiers

PMID: 14578207
DOI: 10.1016/s0002-9440(10)63566-3
PMCID: PMC1892407

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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