Article
Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 25 Sept 2007
Ling Jiqiang, Roy Hervé, Qin Daoming, Rubio Mary Anne T, Alfonzo Juan D, Fredrick Kurt, Ibba Michael
Abstract excerpt
Human mitochondrial tRNA (hmt-tRNA) mutations are associated with a variety of diseases including mitochondrial myopathies, diabetes, encephalopathies, and deafness. Because the current understanding of the precise molecular mechanisms of these mutations is limited, there is no efficient method to treat their associated mitochondrial diseases. Here, we use a variety of known mutations in hmt-tRNA(Phe) to...
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