(Q35908350)

11 August 2017

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit (English)

1 reference

11 August 2017

Luiza Bengtsson

5

0 references

Marisol Montolio

Marisol Montolio

6

0 references

Albert Martínez

Albert Martínez

12

0 references

Xavier Gasull

Xavier Gasull

14

0 references

Michael Pusch

Michael Pusch

15

0 references

Thomas Jentsch

Thomas J Jentsch

13

0 references

author name string

Elena Jeworutzki

1

1 reference

11 August 2017

Tania López-Hernández

2

1 reference

11 August 2017

Xavier Capdevila-Nortes

3

1 reference

11 August 2017

Sònia Sirisi

4

1 reference

11 August 2017

Giovanni Zifarelli

7

1 reference

11 August 2017

Tanit Arnedo

8

1 reference

11 August 2017

Catrin S Müller

9

1 reference

11 August 2017

Uwe Schulte

10

1 reference

11 August 2017

Virginia Nunes

11

1 reference

11 August 2017

Raúl Estévez

16

1 reference

11 August 2017

language of work or name

English

0 references

publication date

1 March 2012

1 reference

11 August 2017

1 reference

11 August 2017

73

1 reference

11 August 2017

5

1 reference

11 August 2017

951-961

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

The beta1 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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Regulation of fast-spiking basket cell synapses by the chloride channel ClC-2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Two splice variants derived from a Drosophila melanogaster candidate ClC gene generate ClC-2-type Cl- channels

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Aquaporin-4 in the central nervous system: cellular and subcellular distribution and coexpression with KIR4.1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Molecular dissection of gating in the ClC-2 chloride channel

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Heteromultimeric CLC chloride channels with novel properties

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

A chloride channel widely expressed in epithelial and non-epithelial cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

ClC-2 voltage-gated channels constitute part of the background conductance and assist chloride extrusion.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Astrocytes from mouse brain slices express ClC-2-mediated Cl- currents regulated during development and after injury.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Osmosensitivity of an inwardly rectifying chloride current revealed by whole-cell and perforated-patch recordings in cultured rat cortical astrocytes.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Characterization of the hyperpolarization-activated chloride current in dissociated rat sympathetic neurons.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Characterization of an inwardly rectifying chloride conductance expressed by cultured rat cortical astrocytes.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Pores Formed by Single Subunits in Mixed Dimers of Different CLC Chloride Channels

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334819

Distribution of chloride channel-2-immunoreactive neuronal and astrocytic processes in the hippocampus

14 November 2018

1 reference

12 December 2020

Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis

1 reference

12 December 2020

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.NEURON.2011.12.039

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22405205

1 reference