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Article

Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases.

Human molecular genetics - 15 Dec 2008

Wang Xiaowen, Salinas Kelly, Zuo Xiaoming, Kucejova Blanka, Chen Xin Jie

Abstract excerpt

Adenine nucleotide translocase (Ant) is the most abundant protein on the mitochondrial inner membrane (MIM) primarily involved in ADP/ATP exchange. Ant also possesses a discrete membrane uncoupling activity. Specific mis-sense mutations in the human Ant1 cause autosomal dominant Progressive External Ophthalmoplegia (adPEO), mitochondrial myopathy and cardiomyopathy, which are commonly manifested by fractional...

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Identifiers

PMID: 18809618
DOI: 10.1093/hmg/ddn306
PMCID: PMC2638581

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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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