Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy caused by mutations in the gene encoding MLC1, a membrane protein mainly expressed in astrocytes in the central nervous system. Although MLC1 function is unknown, evidence is emerging that it may regulate ion f...

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Main Authors: Brignone, Maria S., Lanciotti, Angela, Visentin, Sergio, De Nuccio, Chiara, Molinari, Paola, Camerini, Serena, Diociaiuti, Marco, Petrini, Stefania, Minnone, Gaetana, Crescenzi, Marco, Laudiero, Luisa Bracci, Bertini, Enrico, Petrucci, Tamara C., Ambrosini, Elena
Formato: Artigo
Idioma:Inglês
Publicado em: Academic Press 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4003525/
https://ncbi.nlm.nih.gov/pubmed/24561067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2014.02.003
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