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Article

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.

Human molecular genetics - 19 Jun 2023

Meyer-Schuman Rebecca, Marte Sheila, Smith Tyler J, Feely Shawna M E, Kennerson Marina, Nicholson Garth, Shy Mike E, Koutmou Kristin S, Antonellis Anthony

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes that ligate tRNA molecules to cognate amino acids. Heterozygosity for missense variants or small in-frame deletions in six ARS genes causes dominant axonal peripheral neuropathy. These pathogenic variants reduce enzyme activity without significantly decreasing protein levels and reside in genes encoding homo-dimeric enzymes. These observations raise the...

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PMID: 37010095
DOI: 10.1093/hmg/ddad054
PMCID: PMC10281750

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