A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Fiche publication
Date publication
septembre 2021
Journal
Human mutation
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis, Pr FAIVRE Laurence, Dr DREUMONT Natacha
Tous les auteurs :
Ravel JM, Dreumont N, Mosca P, Smith DEC, Mendes MI, Wiedemann A, Coelho D, Schmitt E, Rivière JB, Mau-Them FT, Thevenon J, Kuentz P, Polivka M, Fuchs SA, Kok G, Thauvin-Robinet C, Guéant JL, Salomons GS, Faivre L, Feillet F
Lien Pubmed
Résumé
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNA . This article is protected by copyright. All rights reserved.
Mots clés
Aminoacylation, SARS1, aminoacyl-tRNA synthetase, brain, deafness, death, intellectual disability, tRNA
Référence
Hum Mutat. 2021 Sep 27;: