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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hüttemann, Maik, Zhang, Zhan, Mullins, Chadwick, Bessert, Denise, Lee, Icksoo, Nave, Klaus-Armin, Appikatla, Sunita, Skoff, Robert P
Formato: Texto
Lenguaje:English
Publicado: American Society for Neurochemistry 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810813/
https://www.ncbi.nlm.nih.gov/pubmed/19663806
http://dx.doi.org/10.1042/AN20090028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810813/
https://www.ncbi.nlm.nih.gov/pubmed/19663806
http://dx.doi.org/10.1042/AN20090028

Ejemplares similares