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Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening
The question of how dispersed mutations in one protein engender the same gain-of-function phenotype is of great interest. Here we focus on mutations in glycyl-tRNA synthetase (GlyRS) that cause an axonal form of Charcot–Marie–Tooth (CMT) diseases, the most common hereditary peripheral neuropathies....
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3145702/ https://ncbi.nlm.nih.gov/pubmed/21737751 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1104293108 |
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