Dominant

Charcot–Marie–Tooth disease NARS1 aminoacyl-tRNA synthetases asparaginyl-tRNA synthetase axonal sensorimotor neuropathy

Journal

Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125

Informations de publication

Date de publication:
2024
Historique:
received: 05 09 2023
revised: 12 01 2024
accepted: 06 03 2024
pmc-release: 08 03 2025
medline: 18 3 2024
pubmed: 18 3 2024
entrez: 18 3 2024
Statut: epublish

Résumé

Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic variants in asparaginyl-tRNA synthetase (

Identifiants

DOI: 10.1093/braincomms/fcae070 PMID: 38495304 PMC: PMC10943570
pubmed: 38495304
doi: 10.1093/braincomms/fcae070
pii: fcae070
pmc: PMC10943570
doi:

Types de publication

Journal Article

Langues

eng

Pagination

fcae070

Informations de copyright

© Crown copyright 2024.

Déclaration de conflit d'intérêts

The authors report no competing interests.

Auteurs

Danique Beijer (D)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.
Department for Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
ORCID: 0000-0001-6593-7644

Sheila Marte (S)

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Jiaxin C Li (JC)

The Jackson Laboratory, Bar Harbor, ME 04609, USA.
Genetics Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.

Willem De Ridder (W)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.
Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.

Jessie Z Chen (JZ)

Department of Neurology, Austin Health, Melbourne, VIC 3084, Australia.

Abigail L D Tadenev (ALD)

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Kathy E Miers (KE)

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Tine Deconinck (T)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.
Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, B-2650, Belgium.

Richard Macdonell (R)

Department of Neurology, Austin Health, Melbourne, VIC 3084, Australia.

Wilson Marques (W)

Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, SP, 14051-140, Brazil.

Peter De Jonghe (P)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.
Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.

Samia L Pratt (SL)

The Jackson Laboratory, Bar Harbor, ME 04609, USA.
Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.

Rebecca Meyer-Schuman (R)

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Stephan Züchner (S)

Department for Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
ORCID: 0000-0002-8498-5235

Anthony Antonellis (A)

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
ORCID: 0000-0002-5820-3156

Robert W Burgess (RW)

The Jackson Laboratory, Bar Harbor, ME 04609, USA.
Genetics Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.
Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.
ORCID: 0000-0002-9229-3407

Jonathan Baets (J)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, B-2610, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, B-2610, Belgium.
Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, B-2610, Belgium.
ORCID: 0000-0001-8295-5385

Classifications MeSH