Defective i6A37 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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Principais autores:	John W Yarham, Tek N Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A Bindoff, Ileana Ferrero, Patrick F Chinnery, Robert McFarland, Richard J Maraia, Robert W Taylor
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Public Library of Science (PLoS) 2014-06-01
סדרה:	PLoS Genetics
גישה מקוונת:	https://doi.org/10.1371/journal.pgen.1004424
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