Cargando…

Kinetic and structural changes in H smt PheRS, induced by pathogenic mutations in human FARS 2

Mutations in the mitochondrial aminoacyl‐tRNA synthetases (mtaaRSs) can cause profound clinical presentations, and have manifested as diseases with very selective tissue specificity. To date most of the mtaaRS mutations could be phenotypically recognized, such that clinicians could identify the affe...

Descripción completa

Detalles Bibliográficos
Autores principales: Kartvelishvili, Ekaterine, Tworowski, Dmitry, Vernon, Hilary, Moor, Nina, Wang, Jing, Wong, Lee‐Jun, Chrzanowska‐Lightowlers, Zofia, Safro, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521548/
https://www.ncbi.nlm.nih.gov/pubmed/28419689
http://dx.doi.org/10.1002/pro.3176