A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes with a critical role in protein synthesis: charging tRNA molecules with cognate amino acids. Heterozygosity for variants in five genes (AARS1, GARS1, HARS1, WARS1, and YARS1) encoding cytoplasmic, dimeric ARSs have been associated with autosoma...

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Detalles Bibliográficos
Autores principales: Forrest, Megan E., Meyer, Alayne P., Laureano Figueroa, Stephanie M., Antonellis, Anthony
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808560/
https://www.ncbi.nlm.nih.gov/pubmed/36307205
http://dx.doi.org/10.1101/mcs.a006246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808560/
https://www.ncbi.nlm.nih.gov/pubmed/36307205
http://dx.doi.org/10.1101/mcs.a006246

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