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PubMed · 11431681

A helicase is born.

C T Moraes
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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'.

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DNA HelicasesDNA PrimaseDNA, MitochondrialHumansMitochondrial ProteinsOphthalmoplegia, Chronic Progressive ExternalSequence DeletionNewsComment

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C T Moraes. 2001. A helicase is born.. https://doi.org/10.1038/90020

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