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Article

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

Orphanet journal of rare diseases - 21 Nov 2019

Pérez-Rius Carla, Folgueira Mónica, Elorza-Vidal Xabier, Alia A, Hoegg-Beiler Maja B, Eeza Muhamed N H, Díaz María Luz, Nunes Virginia, Barrallo-Gimeno Alejandro, Estévez Raúl

Abstract excerpt

BACKGROUND: Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization, epilepsy and early-onset macrocephaly. MLC is caused by mutations in MLC1 or GLIALCAM, coding for two membrane proteins with an unknown function that form a complex specifically expressed in astrocytes at cell-cell junctions. Recent studies in Mlc1-/-...

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Identifiers

PMID: 31752924
DOI: 10.1186/s13023-019-1248-5
PMCID: PMC6873532

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.PMID 31752924Read ↗

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