Article
Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.
Proceedings of the National Academy of Sciences of the United States of America - 22 Mar 2005
Swanton Eileithyia, Holland Andrew, High Stephen, Woodman Philip
Abstract excerpt
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 of oligodendrocyte cell death, which is the primary clinical feature of PMD. The molecular mechanisms underlying the...
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