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

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: Anna Duarri, Óscar Teijido, Tania López-Hernández, Gert C. Scheper, H. Barrière, Ilja Boor, Fernando Aguado, António Zorzano, Manuel Palacı́n, Albert Martı́nez, Gergely L. Lukács, Marjo S. van der Knaap, Virginia Nunes, Raúl Estévez
Médium: Artigo
Jazyk:angličtina
Vydáno: 2008
On-line přístup:https://doi.org/10.1093/hmg/ddn269
https://academic.oup.com/hmg/article-pdf/17/23/3728/1810662/ddn269.pdf
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https://doi.org/10.1093/hmg/ddn269
https://academic.oup.com/hmg/article-pdf/17/23/3728/1810662/ddn269.pdf

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