Functional Analyses of Mutations inHEPACAMCausing Megalencephalic Leukoencephalopathy

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction

(2014) Maja B. Hoegg-Beiler et al.   Nature Communications

Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents

(2013) Xavier Capdevila-Nortes et al.   HUMAN MOLECULAR GENETICS

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

(2012) Marjo S van der Knaap et al.   LANCET NEUROLOGY

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

(2012) Elena Jeworutzki et al.   NEURON

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

(2011) Tania López-Hernández et al.   HUMAN MOLECULAR GENETICS

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

(2011) Anna Duarri et al.   NEUROBIOLOGY OF DISEASE

MLC1 trafficking and membrane expression in astrocytes: Role of caveolin-1 and phosphorylation

(2009) Angela Lanciotti et al.   NEUROBIOLOGY OF DISEASE