Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy, most often caused by mutations in the MLC1 gene. MLC1 is an oligomeric plasma membrane (PM) protein of unknown function expressed mainly in glial cells and neurons. Most disease-causing missense mutati...

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Hlavní autoři: Duarri, Anna, Teijido, Oscar, López-Hernández, Tania, Scheper, Gert C., Barriere, Herve, Boor, Ilja, Aguado, Fernando, Zorzano, Antonio, Palacín, Manuel, Martínez, Albert, Lukacs, Gergely L., van der Knaap, Marjo S., Nunes, Virginia, Estévez, Raúl
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2581428/
https://ncbi.nlm.nih.gov/pubmed/18757878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn269
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