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Article

Barth syndrome mutations that cause tafazzin complex lability.

The Journal of cell biology - 7 Feb 2011

Claypool Steven M, Whited Kevin, Srijumnong Santi, Han Xianlin, Koehler Carla M

Abstract excerpt

Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1. Its product, Taz1p, participates in the metabolism of cardiolipin, the signature phospholipid of mitochondria. In this paper, a yeast BTHS mutant tafazzin panel is established, and 18 of the 21 tested BTHS missense mutations cannot functionally replace...

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Identifiers

PMID: 21300850
DOI: 10.1083/jcb.201008177
PMCID: PMC3101092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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