Evidence For A Dominant-Negative Mechanism In Hars1-Mediated Peripheral Neuropathy

Rebecca Meyer-Schuman,Anthony Antonellis

FEBS JOURNAL（2021）

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摘要

The pathogenic mechanism of neuropathy-associated aminoacyl-tRNA synthetase (ARS) gene variants is poorly defined. Mullenet al. generate new models of pathogenic, dominantHARS1mutations and show that they increase eIF2 alpha 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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关键词

aminoacyl-tRNA synthetase, dominant-negative, HARS1, peripheral neuropathy, protein translation

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