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Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA(Lys)

BACKGROUND: Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNA(Lys) gene at position m.8344A > G. Defective tRNA(Lys) severely impairs mitochondrial protein synthesis...

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Detalles Bibliográficos
Autores principales: Capristo, Mariantonietta, Del Dotto, Valentina, Tropeano, Concetta Valentina, Fiorini, Claudio, Caporali, Leonardo, La Morgia, Chiara, Valentino, Maria Lucia, Montopoli, Monica, Carelli, Valerio, Maresca, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347137/
https://www.ncbi.nlm.nih.gov/pubmed/35922766
http://dx.doi.org/10.1186/s10020-022-00519-z