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Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy

Frontiers in cellular neuroscience, 2021-01, Vol.14, p.627887-627887

2021

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Chloride Channels in Astrocytes: Structure, Roles in Brain Homeostasis and Implications in Disease

International journal of molecular sciences, 2019-02, Vol.20 (5), p.1034

2019

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Dynamic expression of homeostatic ion channels in differentiated cortical astrocytes in vitro

Pflügers Archiv, 2022-02, Vol.474 (2), p.243-260

2022

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Mechanisms of Dominance of MLC2B Mutations in Glialcam, a Regulatory Subunit of the ClC-2 Chloride Channel

Biophysical journal, 2020-02, Vol.118 (3), p.266a-267a

Estevez, Raul

2020

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Postnatal development of the astrocyte perivascular MLC1/GlialCAM complex defines a temporal window for the gliovascular unit maturation

Brain Structure and Function, 2019-04, Vol.224 (3), p.1267-1278

2019

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

Biophysical journal, 2014-09, Vol.107 (5), p.1105-1116

2014

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Cisplatin activates volume sensitive LRRC8 channel mediated currents in Xenopus oocytes

Channels (Austin, Tex.), 2017-05, Vol.11 (3), p.254-260

2017

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CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia

Muscle & nerve, 2018-07, Vol.58 (1), p.157-160

2018

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

Analytical biochemistry, 2012-04, Vol.423 (1), p.109-118

2012

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

Neurogenetics, 2014-03, Vol.15 (1), p.41-48

2014

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Investigating the crosstalk between CLC-1 C-terminal CBS domains and the TM region

Biophysical journal, 2022-02, Vol.121 (3), p.507a-507a

2022

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Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals

Molecular neurobiology, 2019-12, Vol.56 (12), p.8237-8254

2019

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Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy

Neurotherapeutics, 2020-10, Vol.17 (4), p.2041-2053

2020

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Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

Human mutation, 2016-01, Vol.37 (1), p.74-83

2016

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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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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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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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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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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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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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Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy

Chloride Channels in Astrocytes: Structure, Roles in Brain Homeostasis and Implications in Disease

Dynamic expression of homeostatic ion channels in differentiated cortical astrocytes in vitro

Mechanisms of Dominance of MLC2B Mutations in Glialcam, a Regulatory Subunit of the ClC-2 Chloride Channel

Postnatal development of the astrocyte perivascular MLC1/GlialCAM complex defines a temporal window for the gliovascular unit maturation

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

Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit

Cisplatin activates volume sensitive LRRC8 channel mediated currents in Xenopus oocytes

CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia

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

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

Investigating the crosstalk between CLC-1 C-terminal CBS domains and the TM region

Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals

Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

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

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

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

Regulatory–auxiliary subunits of CLC chloride channel–transport proteins

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

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

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