The 3′ addition of CCA to mitochondrial tRNA(Ser(AGY)) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3′ end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochondria. Exome sequencing revealed TRNT1 mutations in...

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Publicado en:Hum Mol Genet
Autores principales: Sasarman, Florin, Thiffault, Isabelle, Weraarpachai, Woranontee, Salomon, Steven, Maftei, Catalina, Gauthier, Julie, Ellazam, Benjamin, Webb, Neil, Antonicka, Hana, Janer, Alexandre, Brunel-Guitton, Catherine, Elpeleg, Orly, Mitchell, Grant, Shoubridge, Eric A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2015
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4406295/
https://ncbi.nlm.nih.gov/pubmed/25652405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv044
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