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

Lancet neurology, 2012-11, Vol.11 (11), p.973-985

2012

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HepaCAM controls astrocyte self-organization and coupling

Neuron (Cambridge, Mass.), 2021-08, Vol.109 (15), p.2427-2442.e10

2021

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Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations

Scientific reports, 2021-09, Vol.11 (1), p.18435-18435, Article 18435

2021

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Expression of LRRC8/VRAC Currents in Xenopus Oocytes: Advantages and Caveats

International journal of molecular sciences, 2018-03, Vol.19 (3), p.719

2018

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Correction to: Dynamic expression of homeostatic ion channels in differentiated cortical astrocytes in vitro

Pflügers Archiv, 2022-02, Vol.474 (2), p.261-261

2022

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Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca2+-induced proteostasis disease stress

Cellular and molecular life sciences : CMLS, 2022-03, Vol.79 (3), p.167-167, Article 167

2022

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GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy

Neurobiology of disease, 2018-11, Vol.119, p.88-99

2018

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

Nature communications, 2014-03, Vol.5 (1), p.3475-3475, Article 3475

2014

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Regulatory–auxiliary subunits of CLC chloride channel–transport proteins

The Journal of physiology, 2015-09, Vol.593 (18), p.4111-4127

2015

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Identification and characterization of the zebrafish ClC-2 chloride channel orthologs

Pflügers Archiv, 2015-08, Vol.467 (8), p.1769-1781

2015

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GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5528

2022

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Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy

Human molecular genetics, 2017-07, Vol.26 (13), p.2436-2450

2017

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

American journal of human genetics, 2011-04, Vol.88 (4), p.422-432

2011

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

Neuron (Cambridge, Mass.), 2012-03, Vol.73 (5), p.951-961

2012

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

The Journal of physiology, 2015-09, Vol.593 (18), p.4165-4180

2015

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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

American journal of human genetics, 2021-08, Vol.108 (8), p.1450-1465

2021

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Leukoencephalopathy‐causing CLCN2 mutations are associated with impaired Cl− channel function and trafficking

The Journal of physiology, 2017-11, Vol.595 (22), p.6993-7008

2017

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The LRRC8-mediated volume-regulated anion channel is altered in glaucoma

Scientific reports, 2019-04, Vol.9 (1), p.5392-5392, Article 5392

2019

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Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia

The Journal of physiology, 2024-08, Vol.602 (16), p.3975-3994

2024

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Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies

Human molecular genetics, 2020-05, Vol.29 (7), p.1107-1120

2020

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

Human molecular genetics, 2011-08, Vol.20 (16), p.3266-3277

2011

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Author Correction: The LRRC8-mediated volume-regulated anion channel is altered in glaucoma

Scientific reports, 2020-07, Vol.10 (1), p.11443-11443, Article 11443

2020

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Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins

Human molecular genetics, 2021-09, Vol.30 (17), p.1649-1665

2021

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Molecular Biology of Mammalian Plasma Membrane Amino Acid Transporters

Physiological reviews, 1998-10, Vol.78 (4), p.969-1054

1998

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Drosophila ClC‐a is required in glia of the stem cell niche for proper neurogenesis and wiring of neural circuits

Glia, 2019-12, Vol.67 (12), p.2374-2398

2019

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

HepaCAM controls astrocyte self-organization and coupling

Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations

Expression of LRRC8/VRAC Currents in Xenopus Oocytes: Advantages and Caveats

Correction to: Dynamic expression of homeostatic ion channels in differentiated cortical astrocytes in vitro

Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca2+-induced proteostasis disease stress

GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy

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

Regulatory–auxiliary subunits of CLC chloride channel–transport proteins

Identification and characterization of the zebrafish ClC-2 chloride channel orthologs

GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts

Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy

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

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

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

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Leukoencephalopathy‐causing CLCN2 mutations are associated with impaired Cl− channel function and trafficking

The LRRC8-mediated volume-regulated anion channel is altered in glaucoma

Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia

Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies

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

Author Correction: The LRRC8-mediated volume-regulated anion channel is altered in glaucoma

Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins

Molecular Biology of Mammalian Plasma Membrane Amino Acid Transporters

Drosophila ClC‐a is required in glia of the stem cell niche for proper neurogenesis and wiring of neural circuits

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