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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate met...

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Detalles Bibliográficos
Autores principales:	Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2013
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3889809/ https://www.ncbi.nlm.nih.gov/pubmed/23814040 http://dx.doi.org/10.1093/hmg/ddt309

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