Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease

Mutations in proteolipid protein 1 (PLP1) result in failure of myelination and neurological dysfunction in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD)(1,2). Most PLP1 mutations, including point mutations and supernumerary copy variants, lead to severe and fatal disease. PLP1-null...

Descripción completa

Detalles Bibliográficos
Autores principales: Elitt, Matthew S., Barbar, Lilianne, Shick, H. Elizabeth, Powers, Berit E., Maeno-Hikichi, Yuka, Madhavan, Mayur, Allan, Kevin C., Nawash, Baraa S., Gevorgyan, Artur S., Hung, Stevephen, Nevin, Zachary S., Olsen, Hannah E., Hitomi, Midori, Schlatzer, Daniela M., Zhao, Hien T., Swayze, Adam, LePage, David F., Jiang, Weihong, Conlon, Ronald A., Rigo, Frank, Tesar, Paul J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810164/
https://www.ncbi.nlm.nih.gov/pubmed/32610343
http://dx.doi.org/10.1038/s41586-020-2494-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810164/
https://www.ncbi.nlm.nih.gov/pubmed/32610343
http://dx.doi.org/10.1038/s41586-020-2494-3

Ejemplares similares