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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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Swanton, Eileithyia, Holland, Andrew, High, Stephen, Woodman, Philip
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 2005
Assuntos:	Biological Sciences
Acesso em linha:	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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