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Article

Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.

Human molecular genetics - 19 Feb 2023

Qiu Yi, Kenana Rosan, Beharry Aruun, Wilhelm Sarah D P, Hsu Sung Yuan, Siu Victoria M, Duennwald Martin, Heinemann Ilka U

Abstract excerpt

Aminoacyl-tRNA synthetases are essential enzymes responsible for charging amino acids onto cognate tRNAs during protein synthesis. In histidyl-tRNA synthetase (HARS), autosomal dominant mutations V133F, V155G, Y330C and S356N in the HARS catalytic domain cause Charcot-Marie-Tooth disease type 2 W (CMT2W), while tRNA-binding domain mutation Y454S causes recessive Usher syndrome type IIIB. In a yeast model, all...

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Identifiers

PMID: 36164730
DOI: 10.1093/hmg/ddac239
PMCID: PMC9941834

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.PMID 36164730Read ↗

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