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Article

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

Human molecular genetics - 1 Oct 2014

Sirisi Sònia, Folgueira Mónica, López-Hernández Tania, Minieri Laura, Pérez-Rius Carla, Gaitán-Peñas Héctor, Zang Jingjing, Martínez Albert, Capdevila-Nortes Xavier, De La Villa Pedro, Roy Upasana, Alia A, Neuhauss Stephan, Ferroni Stefano, Nunes Virginia, Estévez Raúl, Barrallo-Gimeno Alejandro

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by myelin vacuolization and caused by mutations in MLC1 or GLIALCAM. Patients with recessive mutations in either MLC1 or GLIALCAM show the same clinical phenotype. It has been shown that GLIALCAM is necessary for the correct targeting of MLC1 to the membrane at cell junctions, but its own localization was...

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Identifiers

PMID: 24824219
DOI: 10.1093/hmg/ddu231

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.

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Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.PMID 24824219Read ↗

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

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