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...

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Publicado no:Nature
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7810164/
https://ncbi.nlm.nih.gov/pubmed/32610343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-020-2494-3
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