Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
|
Materias: | |
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 |