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A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus–Merzbacher disease

A large number of mutations in the human PLP1 gene lead to abnormal myelination and oligodendrocyte death in Pelizaeus–Merzbacher disease (PMD). Here we show that a major subgroup of PMD mutations that map into the extracellular loop region of PLP/DM20 leads to the failure of oligodendrocytes to for...

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Autori principali: Dhaunchak, Ajit-Singh, Nave, Klaus-Armin
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2007
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2077047/
https://ncbi.nlm.nih.gov/pubmed/17962415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0704975104
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