Defective i(6)A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

Identifying the genetic basis for mitochondrial diseases is technically challenging given the size of the mitochondrial proteome and the heterogeneity of disease presentations. Using next-generation exome sequencing, we identified in a patient with severe combined mitochondrial respiratory chain def...

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Detalhes bibliográficos
Main Authors: Yarham, John W., Lamichhane, Tek N., Pyle, Angela, Mattijssen, Sandy, Baruffini, Enrico, Bruni, Francesco, Donnini, Claudia, Vassilev, Alex, He, Langping, Blakely, Emma L., Griffin, Helen, Santibanez-Koref, Mauro, Bindoff, Laurence A., Ferrero, Ileana, Chinnery, Patrick F., McFarland, Robert, Maraia, Richard J., Taylor, Robert W.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4046958/
https://ncbi.nlm.nih.gov/pubmed/24901367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004424
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