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Article

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.

The Journal of clinical investigation - 1 Nov 2006

Yildiz Yildiz, Matern Heidrun, Thompson Bonne, Allegood Jeremy C, Warren Rebekkah L, Ramirez Denise M O, Hammer Robert E, Hamra F Kent, Matern Siegfried, Russell David W

Abstract excerpt

beta-Glucosidase 2 (GBA2) is a resident enzyme of the endoplasmic reticulum thought to play a role in the metabolism of bile acid-glucose conjugates. To gain insight into the biological function of this enzyme and its substrates, we generated mice deficient in GBA2 and found that these animals had normal bile acid metabolism. Knockout males exhibited impaired fertility. Microscopic examination of sperm revealed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17080196
DOI: 10.1172/JCI29224
PMCID: PMC1626112

Genes

GBA2
GBA1

Provenance

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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