ArticleActa neuropathologica2007
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
Article in Acta neuropathologica, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 61 citations in OpenAlex.
- Spatial organization of AQP4 water channel expression in the human brain.Science advances · 2026Article
- Mammary Fibroblasts Secrete Damage Associated Molecular Patterns Through Extracellular Vesicles in Response to Ionizing Radiation.Journal of extracellular biology · 2026Article
- Curing the brain: in search for new astrocyte-specific therapies.Experimental & molecular medicine · 2026Review
- Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC.Glia · 2026Article
- Glial Ion Channels in Myelin Pathophysiology: Insights from Leukodystrophies.Life (Basel, Switzerland) · 2025Review
- Molecular profiling of brain endothelial cell to astrocyte endfoot communication in mouse and human.Nature communications · 2025Article
- Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Neuroglial Pathophysiology of Leukodystrophies.Advances in neurobiology · 2025Review
- Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.Frontiers in genetics · 2024Article
- Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations.Scientific reports · 2021Article
- Pathology of the neurovascular unit in leukodystrophies.Acta neuropathologica communications · 2021Article
- Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment.Oncogene · 2020Article
- Transcriptional network analysis of human astrocytic endfoot genes reveals region-specific associations with dementia status and tau pathology.Scientific reports · 2018Article
- Genetic defects disrupting glial ion and water homeostasis in the brain.Brain pathology (Zurich, Switzerland) · 2018Review
- Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.Annals of neurology · 2018Article
- A transcriptome-based assessment of the astrocytic dystrophin-associated complex in the developing human brain.Journal of neuroscience research · 2018Article
- Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Acta neuropathologica · 2017Review
- Megalencephalic leukoencephalopathy with cysts: theAnnals of clinical and translational neurology · 2017Article
- Temporal Profiling of Astrocyte Precursors Reveals Parallel Roles for Asef during Development and after Injury.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- MLC1 protein: a likely link between leukodystrophies and brain channelopathies.Frontiers in cellular neuroscience · 2015Review
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Authors and funding
13 authors at 5 institutions in 5 countries.
Funding
Abstract
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease with onset in childhood, caused by mutations in the MLC1 gene. MLC1 is a protein with unknown function that is mainly expressed in the brain in astrocytic endfeet at the blood-brain and cerebrospinal fluid-brain barriers. It shares its localization at astrocytic endfeet with the dystrophin-associated glycoprotein complex (DGC). The objective of the present study was to investigate the possible association of MLC1 with the DGC. To test this hypothesis, (co)-localization of DGC-proteins and MLC1 was analyzed by immunohistochemical stainings in gliotic brain tissue from a patient with multiple sclerosis, in glioblastoma tissue and in brain tissue from an MLC patient. In control tissue, a direct protein interaction was tested by immunoprecipitation. Results revealed that MLC1 is co-localized with DGC-proteins in gliotic brain tissue. We demonstrated that both MLC1 and aquaporin-4, a member of the DGC, were redistributed in glioblastoma cells. In MLC brain tissue, we showed absence of MLC1 and altered expression of several DGC-proteins. We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet.
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