Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy

Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle

(2014) Mohit Dubey et al.   ANNALS OF NEUROLOGY

GlialCAM, a CLC-2 Cl - Channel Subunit, Activates the Slow Gate of CLC Chloride Channels

(2014) Elena Jeworutzki et al.   BIOPHYSICAL JOURNAL

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans

(2014) Sònia Sirisi et al.   HUMAN MOLECULAR GENETICS

Functional Analyses of Mutations inHEPACAMCausing Megalencephalic Leukoencephalopathy

(2014) Tanit Arnedo et al.   HUMAN MUTATION

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

(2014) D. Di Bella et al.   NEUROLOGY

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

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

(2013) Christel Depienne et al.   LANCET NEUROLOGY

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

(2013) Tanit Arnedo et al.   NEUROGENETICS

A modification of the split-tobacco etch virus method for monitoring interactions between membrane proteins in mammalian cells

(2012) Xavier Capdevila-Nortes et al.   ANALYTICAL BIOCHEMISTRY

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

(2012) Angela Lanciotti 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

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation

(2011) Margreet C. Ridder et al.   BRAIN

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

HEPACAM1 and 2 are differentially regulated in canine mammary adenomas and carcinomas and its lymph node metastases

(2010) Robert Klopfleisch et al.   BMC Veterinary Research

The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

(2010) Maria S. Brignone et al.   HUMAN MOLECULAR GENETICS

Focus on composition and interaction potential of single-pass transmembrane domains

(2010) Remigiusz Worch et al.   PROTEOMICS

Rapid recycling of ClC-2 chloride channels between plasma membrane and endosomes: Role of a tyrosine endocytosis motif in surface retrieval

(2009) Isabel Cornejo et al.   JOURNAL OF CELLULAR PHYSIOLOGY

The immunoglobulin-like cell adhesion molecule hepaCAM modulates cell adhesion and motility through direct interaction with the actin cytoskeleton

(2009) Mei Chung Moh et al.   JOURNAL OF CELLULAR PHYSIOLOGY

GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system

(2008) Linda Favre-Kontula et al.   GLIA