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Article

Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy.

The FEBS journal - 1 Jan 2021

Meyer-Schuman Rebecca, Antonellis Anthony

Abstract excerpt

The pathogenic mechanism of neuropathy-associated aminoacyl-tRNA synthetase (ARS) gene variants is poorly defined. Mullen et al. generate new models of pathogenic, dominant HARS1 mutations and show that they increase eIF2α phosphorylation and decrease protein translation in neurons. These results are consistent with a dominant-negative mechanism of ARS-mediated peripheral neuropathy. Comment on:...

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PMID: 32940403
DOI: 10.1111/febs.15538
PMCID: PMC8027917

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