A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.

Journal

HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885

Informations de publication

Date de publication:
01 Jul 2024
Historique:
received: 01 04 2024
revised: 27 06 2024
accepted: 27 06 2024
medline: 3 7 2024
pubmed: 3 7 2024
entrez: 3 7 2024
Statut: aheadofprint

Résumé

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that complete the first step of protein translation: ligation of amino acids to cognate tRNAs. Genes encoding ARSs have been implicated in myriad dominant and recessive phenotypes, the latter often affecting multiple tissues but with frequent involvement of the central and peripheral nervous systems, liver, and lungs. Threonyl-tRNA synthetase (TARS1) encodes the enzyme that ligates threonine to tRNA

Identifiants

DOI: 10.1016/j.xhgg.2024.100324 PMID: 38956874
pubmed: 38956874
pii: S2666-2477(24)00064-2
doi: 10.1016/j.xhgg.2024.100324
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

100324

Informations de copyright

Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.

Auteurs

Rebecca Meyer-Schuman (R)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Allison R Cale (AR)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Jennifer A Pierluissi (JA)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Kira E Jonatzke (KE)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Young N Park (YN)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Guy M Lenk (GM)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Stephanie N Oprescu (SN)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Marina A Grachtchouk (MA)

Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.

Andrzej A Dlugosz (AA)

Department of Dermatology, University of Michigan, Ann Arbor, MI, USA;; Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA;; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.

Asim A Beg (AA)

Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA.

Miriam H Meisler (MH)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA;; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

Anthony Antonellis (A)

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA;; Department of Neurology, University of Michigan, Ann Arbor, MI, USA. Electronic address: antonell@umich.edu.

Classifications MeSH