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Article

Towards a Cure for HARS Disease.

Genes - 18 Jan 2023

Wilhelm Sarah D P, Kenana Rosan, Qiu Yi, O'Donoghue Patrick, Heinemann Ilka U

Abstract excerpt

Histidyl-tRNA synthetase (HARS) ligates histidine to its cognate transfer RNA (tRNAHis). Mutations in HARS cause the human genetic disorders Usher syndrome type 3B (USH3B) and Charcot-Marie-Tooth syndrome type 2W (CMT2W). Treatment for these diseases remains symptomatic, and no disease specific treatments are currently available. Mutations in HARS can lead to destabilization of the enzyme, reduced aminoacylation,...

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Identifiers

PMID: 36833180
DOI: 10.3390/genes14020254
PMCID: PMC9956352

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