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Article

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.

Nature - 4 Jun 1992

Tybulewicz V L, Tremblay M L, LaMarca M E, Willemsen R, Stubblefield B K, Winfield S, Zablocka B, Sidransky E, Martin B M, Huang S P

Abstract excerpt

Gaucher's disease is the most prevalent lysosomal storage disorder in humans and results from an autosomally inherited deficiency of the enzyme glucocerebrosidase (beta-D-glucosyl-N-acylsphingosine glucohydrolase), which is responsible for degrading the sphingolipid glucocerebroside. An animal mo...

Topics

Animals
Bone Marrow
Brain
Disease Models, Animal
Female
Gaucher Disease
Glucosylceramidase
Homozygote
Lipid Metabolism
Liver
Lysosomes
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Mice, Transgenic

Microscopy, Electron

Mutation

Spleen

Source

Identifiers

PMID: 1594045
DOI: 10.1038/357407a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1594045-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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