Article
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Human molecular genetics - 1 Dec 2008
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
Abstract excerpt
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 mutations dramatically reduced the total and PM MLC1 expression levels in Xenopus oocytes and mammalian cells. The...
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