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Exploring the Ability of LARS2 Carboxy-Terminal Domain in Rescuing the MELAS Phenotype

The m.3243A>G mutation within the mitochondrial mt-tRNALeu((UUR)) gene is the most prevalent variant linked to mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome. This pathogenic mutation causes severe impairment of mitochondrial protein synthesis due to a...

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Detalles Bibliográficos
Autores principales: Capriglia, Francesco, Rizzo, Francesca, Petrosillo, Giuseppe, Morea, Veronica, d’Amati, Giulia, Cantatore, Palmiro, Roberti, Marina, Loguercio Polosa, Paola, Bruni, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303833/
https://www.ncbi.nlm.nih.gov/pubmed/34357047
http://dx.doi.org/10.3390/life11070674