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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003525/
https://www.ncbi.nlm.nih.gov/pubmed/24561067
http://dx.doi.org/10.1016/j.nbd.2014.02.003

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