Article
Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.
Neuroscience - 15 Sept 2006
Koizume S, Takizawa S, Fujita K, Aida N, Yamashita S, Miyagi Y, Osaka H
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by proteolipid protein 1 (PLP1) gene mutations. Previous studies indicated that proteolipid proteins (PLPs) with disease-associated mutations are misfolded and trapped in the endoplasmic reticulum (ER) during transportation to the cell surface, which eventually leads to oligodendrocyte cell death in PMD. Here we report a PMD patient with...
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