Associated Papers
Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.
Zha J et al.
Molecular Genetics & Genomic Medicine, 2024
Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
Brignone MS et al.
Neurobiology of Disease, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
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
The CaMKII/MLC1 Axis Confers Ca2+-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes.
Brignone MS et al.
Cells, 2022
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
Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.
Brignone MS et al.
Molecular Neurobiology, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
Structure-guided combination therapy to potently improve the function of mutant CFTRs.
Veit G et al.
Nature Medicine, 2018
Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect.
Veit G et al.
Plos Biology, 2016
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
Lanciotti A et al.
Human Molecular Genetics, 2016
MLC1 protein: a likely link between leukodystrophies and brain channelopathies.
Brignone MS et al.
Frontiers in Cellular Neuroscience, 2015
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis.
Brignone MS et al.
Neurobiology of Disease, 2014
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Lanciotti A et al.
Human Molecular Genetics, 2012
MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation.
Lanciotti A et al.
Neurobiology of Disease, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Duarri A et al.
Human Molecular Genetics, 2008
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts.
Kiriyama T et al.
Clinical Neurology and Neurosurgery, 2007
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
A common mutation and a novel mutation in Japanese patients with van der Knaap disease.
Tsujino S et al.
Journal of Human Genetics, 2003
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA et al.
American Journal of Human Genetics, 2001