Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum
Pelizaeus–Merzbacher disease (PMD) is a dysmyelinating disease caused by mutations, deletions, or duplications of the proteolipid protein (PLP) gene. Mutant forms of PLP are retained in the endoplasmic reticulum (ER), and the resulting accumulation of mutant protein is thought to be a direct cause o...
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| Publicado en: | Proc Natl Acad Sci U S A |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
National Academy of Sciences
2005
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC555485/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15753308/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0407287102 |
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