A helicase is born
Abstract
One of three loci previously associated with autosomal dominant progressive external ophthalmoplegia (adPEO) encodes ANT1, a mitochondrial nucleotide transporter. Now, mutations in two other genes are found in people with adPEO. One of these encodes a new helicase, Twinkle, which is related to the product of bacteriophage T7 gene 4, and co-localizes with mitochondrial DNA. The identification of Twinkle adds a new star to the expanding constellation of 'helicase diseases'.
Comment on
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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058. Nat Genet. 2001. PMID: 11431692
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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058. Nat Genet. 2001. PMID: 11431692
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