Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.

BMC neurology - 15 Aug 2022

Høyer Helle, Busk Øyvind L, Esbensen Q Ying, Røsby Oddveig, Hilmarsen Hilde T, Russell Michael B, Nyman Tuula A, Braathen Geir J, Nilsen Hilde L

Abstract excerpt

BACKGROUND: Aminoacyl tRNA-synthetases are ubiquitously-expressed enzymes that attach amino acids to their cognate tRNA molecules. Mutations in several genes encoding aminoacyl tRNA-synthetases, have been associated with peripheral neuropathy, i.e. AARS1, GARS1, HARS1, YARS1 and WARS1. The pathogenic mechanism underlying AARS1-related neuropathy is not known. METHODS: From 2012 onward, all probands presenting at...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to Inflammation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes, Mononuclear

Share to Mutation

Share to Pedigree

Share to Proteome

Share to Proteomics

Source

Open in PubMed Open full text

Identifiers

PMID: 35971119
DOI: 10.1186/s12883-022-02828-6
PMCID: PMC9377087

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.PMID 35971119Read ↗

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.Semantic proximity Read ↗

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.Semantic proximity Read ↗

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.Semantic proximity Read ↗

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.Semantic proximity Read ↗

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).Semantic proximity Read ↗

Recent advances in the genetic neuropathies.Semantic proximity Read ↗

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Aminoacyl-tRNA synthetase defects in neurological diseases.Semantic proximity Read ↗

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.Semantic proximity Read ↗

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?Semantic proximity Read ↗

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Searching for non-canonical functions of aminoacyl-tRNA synthases based on mutations carried by Charcot-Marie-Tooth patientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.