Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

The Journal of physiology - 15 Nov 2017

Gaitán-Peñas Héctor, Apaja Pirjo M, Arnedo Tanit, Castellanos Aida, Elorza-Vidal Xabier, Soto David, Gasull Xavier, Lukacs Gergely L, Estévez Raúl

Abstract excerpt

KEY POINTS: Characterisation of most mutations found in CLCN2 in patients with CC2L leukodystrophy show that they cause a reduction in function of the chloride channel ClC-2. GlialCAM, a regulatory subunit of ClC-2 in glial cells and involved in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC), increases the activity of a ClC-2 mutant by affecting ClC-2 gating and by stabilising...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chloride Channels
Share to Chlorides

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion Channel Gating

Share to Leukoencephalopathies

Share to Neuroglia

Share to Protein Stability

Share to Tight Junctions

Share to Xenopus

Source

Open in PubMed Open full text

Identifiers

PMID: 28905383
DOI: 10.1113/JP275087
PMCID: PMC5685823

Genes

MLC1
CLCN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.PMID 28905383Read ↗

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.Semantic proximity Read ↗

Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.Semantic proximity Read ↗

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

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.Semantic proximity Read ↗

Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins.Semantic proximity Read ↗

GlialCAM, a CLC-2 Cl(-) channel subunit, activates the slow gate of CLC chloride channels.Semantic proximity Read ↗

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.Semantic proximity Read ↗

Leukoencephalopathy upon disruption of the chloride channel ClC-2.Semantic proximity Read ↗

Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.Semantic proximity Read ↗

Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.Semantic proximity Read ↗

Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.