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Structural Basis for the Trembler-J Phenotype of Charcot-Marie-Tooth Disease
Mutations in peripheral myelin protein 22 (PMP22) can result in the common peripheral neuropathy, Charcot-Marie-Tooth disease (CMTD). The Leu16Pro mutation in PMP22 results in misassembly of the protein, which causes the Trembler-J (TrJ) disease phenotype. Here we elucidate the structural defects pr...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3154623/ https://ncbi.nlm.nih.gov/pubmed/21827951 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.str.2011.05.009 |
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