Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy, in the majority of cases caused by mutations in the MLC1 gene. MRI from MLC patients shows diffuse cerebral white matter signal abnormality and swelling, with evidence of increased water content. Histo...

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Autors principals: Duarri, Anna, de Heredia, Miguel Lopez, Capdevila-Nortes, Xavier, Ridder, Margreet C., Montolio, Marisol, López-Hernández, Tania, Boor, Ilja, Lien, Chun-Fu, Hagemann, Tracy, Messing, Albee, Gorecki, Dariusz C., Scheper, Gert C., Martínez, Albert, Nunes, Virginia, van der Knaap, Marjo S., Estévez, Raúl
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3885813/
https://ncbi.nlm.nih.gov/pubmed/21440627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2011.03.015
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