Different proteolipid protein mutants exhibit unique metabolic defects

PMD (Pelizaeus–Merzbacher disease), a CNS (central nervous system) disease characterized by shortened lifespan and severe neural dysfunction, is caused by mutations of the PLP1 (X-linked myelin proteolipid protein) gene. The majority of human PLP1 mutations are caused by duplications; almost all oth...

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Detaylı Bibliyografya
Asıl Yazarlar: Hüttemann, Maik, Zhang, Zhan, Mullins, Chadwick, Bessert, Denise, Lee, Icksoo, Nave, Klaus-Armin, Appikatla, Sunita, Skoff, Robert P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Neurochemistry 2009
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2810813/
https://ncbi.nlm.nih.gov/pubmed/19663806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/AN20090028
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