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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046958/
https://www.ncbi.nlm.nih.gov/pubmed/24901367
http://dx.doi.org/10.1371/journal.pgen.1004424

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046958/
https://www.ncbi.nlm.nih.gov/pubmed/24901367
http://dx.doi.org/10.1371/journal.pgen.1004424

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