A Disease-causing Point Mutation in Human Mitochondrial tRNA(Met) Results in tRNA Misfolding Leading to Defects in Translational Initiation and Elongation

The mitochondrial tRNA genes are hot spots for mutations that lead to human disease. A single point mutation (T4409C) in the gene for human mitochondrial tRNA(Met) (hmtRNA(Met)) has been found to cause mitochondrial myopathy. This mutation results in the replacement of U8 in hmtRNA(Met) with a C8. T...

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Autori principali: Jones, Christie N., Jones, Christopher I., Graham, William D., Agris, Paul F., Spremulli, Linda L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2008
Soggetti:
Protein Synthesis, Post-Translational Modification, and Degradation
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2590712/
https://ncbi.nlm.nih.gov/pubmed/18835817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M806992200
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