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Article

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.

Hepatology (Baltimore, Md.) - 1 Feb 2011

Levéen Per, Kotarsky Heike, Mörgelin Matthias, Karikoski Riitta, Elmér Eskil, Fellman Vineta

Abstract excerpt

UNLABELLED: Mitochondrial dysfunction is an important cause for neonatal liver disease. Disruption of genes encoding oxidative phosphorylation (OXPHOS) components usually causes embryonic lethality, and thus few disease models are available. We developed a mouse model for GRACILE syndrome, a neonatal mitochondrial disease with liver and kidney involvement, caused by a homozygous BCS1L mutation (232A>G). This gene...

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Identifiers

PMID: 21274865
DOI: 10.1002/hep.24031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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