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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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
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
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Duarri A et al.
Human Molecular Genetics, 2008
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
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Patrono C et al.
Neurology, 2003
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA et al.
Human Genetics, 2002
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