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• W2085752695 abstract "Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial DNA (mtDNA) deletions. We have identified two heterozygous missense mutations in the nuclear gene encoding the heart/skeletal muscle isoform of the adenine nucleotide translocator ( ANT1 ) in five families and one sporadic patient. The familial mutation substitutes a proline for a highly conserved alanine at position 114 in the ANT1 protein. The analogous mutation in yeast caused a respiratory defect. These results indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism." @default.
• W2085752695 created "2016-06-24" @default.
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• W2085752695 date "2000-08-04" @default.
• W2085752695 modified "2023-09-29" @default.
• W2085752695 title "Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance" @default.
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• W2085752695 doi "https://doi.org/10.1126/science.289.5480.782" @default.
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