Associated Papers
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
38487253 (PubMed )
Supplement: Table1.pdf
Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca2+-induced proteostasis disease stress.
Wang BB et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations.
Xu H et al.
Scientific Reports, 2021
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Kariminejad A et al.
European Journal of Medical Genetics, 2015
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
Capdevila-Nortes X et al.
Human Molecular Genetics, 2013
[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
Guo MM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.
Xie H et al.
Plos One, 2012
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
Ridder MC et al.
Brain : a Journal of Neurology, 2011
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Duarri A et al.
Human Molecular Genetics, 2008
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Ilja Boor PK et al.
Human Mutation, 2006
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe JR et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
Teijido O et al.
Human Molecular Genetics, 2004
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA et al.
Human Genetics, 2002
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