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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I whakaputaina i:	Proc Natl Acad Sci U S A
Ngā kaituhi matua:	Swanton, Eileithyia, Holland, Andrew, High, Stephen, Woodman, Philip
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	National Academy of Sciences 2005
Ngā marau:	Biological Sciences
Urunga tuihono:	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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