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Article

Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease.

Nucleic acids research - 11 Dec 2024

Wilhelm Sarah D P, Kakadia Jenica H, Beharry Aruun, Kenana Rosan, Hoffman Kyle S, O'Donoghue Patrick, Heinemann Ilka U

Abstract excerpt

Aminoacyl-tRNA synthetases are indispensable enzymes in all cells, ensuring the correct pairing of amino acids to their cognate tRNAs to maintain translation fidelity. Autosomal dominant mutations V133F and Y330C in histidyl-tRNA synthetase (HARS) cause the genetic disorder Charcot-Marie-Tooth type 2W (CMT2W). Treatments are currently restricted to symptom relief, with no therapeutic available that targets the...

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Identifiers

PMID: 39530218
DOI: 10.1093/nar/gkae996
PMCID: PMC11662652

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