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

Aminoacyl-tRNA synthetase defects in neurological diseases.

IUBMB life - 1 Jan 2025

Zhang Hong, Ling Jiqiang

Abstract excerpt

Aminoacyl-tRNA synthetases (aaRSs) are essential enzymes to support protein synthesis in all organisms. Recent studies, empowered by advancements in genome sequencing, have uncovered an increasing number of disease-causing mutations in aaRSs. Monoallelic aaRS mutations typically lead to dominant peripheral neuropathies such as Charcot-Marie-Tooth (CMT) disease, whereas biallelic aaRS mutations often impair the...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acyl-tRNA Synthetases
Share to Charcot-Marie-Tooth Disease
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nervous System Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 39487674
DOI: 10.1002/iub.2924
PMCID: PMC11611227

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aminoacyl-tRNA synthetase defects in neurological diseases.PMID 39487674Read ↗

The role of aminoacyl-tRNA synthetases in genetic diseases.Semantic proximity Read ↗

Human aminoacyl-tRNA synthetases in diseases of the nervous system.Semantic proximity Read ↗

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

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.Semantic proximity Read ↗

Aminoacyl tRNA synthetases and their connections to disease.Semantic proximity Read ↗

Aminoacyl-tRNA synthetases in medicine and disease.Semantic proximity Read ↗

Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.Semantic proximity Read ↗

Aminoacyl-tRNA synthetases: Structure, function, and drug discovery.Semantic proximity Read ↗

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Semantic proximity Read ↗

[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].Semantic proximity Read ↗

Aminoacyl-tRNA synthetase deficiencies in search of common themes.Semantic proximity Read ↗

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Semantic proximity Read ↗

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