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Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy
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 ar...
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| Publicado no: | FEBS J |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8027917/ https://ncbi.nlm.nih.gov/pubmed/32940403 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/febs.15538 |
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