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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Nature
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2020
विषय:
Article
ऑनलाइन पहुंच: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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