Associated Papers
Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.
Lewis RW et al.
Biorxiv : the Preprint Server for Biology, 2025
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.
Kaur N et al.
Neurogenetics, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
HepaCAM controls astrocyte self-organization and coupling.
Baldwin KT et al.
Neuron, 2021
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
Elorza-Vidal X et al.
Human Molecular Genetics, 2020
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.
Shi Z et al.
World Journal of Pediatrics : Wjp, 2019
Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.
Gaitán-Peñas H et al.
The Journal of Physiology, 2017
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.
Arnedo T et al.
Human Mutation, 2014
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
Hoegg-Beiler MB et al.
Nature Communications, 2014
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
López-Hernández T et al.
American Journal of Human Genetics, 2011
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