Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model

Aminoacyl-tRNA synthetases are essential enzymes responsible for charging amino acids onto cognate tRNAs during protein synthesis. In histidyl-tRNA synthetase (HARS), autosomal dominant mutations V133F, V155G, Y330C and S356N in the HARS catalytic domain cause Charcot–Marie–Tooth disease type 2 W (C...

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Detalles Bibliográficos
Autores principales: Qiu, Yi, Kenana, Rosan, Beharry, Aruun, Wilhelm, Sarah D P, Hsu, Sung Yuan, Siu, Victoria M, Duennwald, Martin, Heinemann, Ilka U
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9941834/
https://www.ncbi.nlm.nih.gov/pubmed/36164730
http://dx.doi.org/10.1093/hmg/ddac239

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