Ontology highlight
ABSTRACT:
SUBMITTER: Huttemann M
PROVIDER: S-EPMC2810813 | biostudies-other | 2009 Aug
REPOSITORIES: biostudies-other
Hüttemann Maik M Zhang Zhan Z Mullins Chadwick C Bessert Denise D Lee Icksoo I Nave Klaus-Armin KA Appikatla Sunita S Skoff Robert P RP
ASN neuro 20090825 3
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 others are caused by missense mutations. The cellular events leading to the phenotype are unknown. The same mutations in non-humans make them ideal models to study the mechanisms that cause neurological ...[more]