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Article

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

Neurogenetics - 1 Mar 2014

Arnedo Tanit, Aiello Chiara, Jeworutzki Elena, Dentici Maria Lisa, Uziel Graziella, Simonati Alessandro, Pusch Michael, Bertini Enrico, Estévez Raúl

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a heterogeneous neurodegenerative leukodystrophy caused by recessive mutations in MLC1 or GLIALCAM (types MLC1 and MLC2A) of by dominant mutations in GLIALCAM (MLC2B). GlialCAM functions as an auxiliary subunit of both MLC1 and ClC-2 chloride channel, increasing and modifying the function of the latter. Dominant mutations in GLIALCAM cause...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24202401
DOI: 10.1007/s10048-013-0381-x

Genes

MLC1

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

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Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.PMID 24202401Read ↗

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.Semantic proximity Read ↗

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

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

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.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: a multicenter Italian experience.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 protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.Semantic proximity Read ↗

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.Semantic proximity Read ↗

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