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http://purl.uniprot.org/citations/17628813http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/17628813http://www.w3.org/2000/01/rdf-schema#comment"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."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.org/dc/terms/identifier"doi:10.1007/s00401-007-0247-0"xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Estevez R."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Muntoni F."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Pascual-Castroviejo I."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Bove K.E."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Pronk J.C."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"van der Knaap M.S."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Dinopoulos A."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Scheper G.C."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Kamphorst W."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"van der Valk P."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Boor I."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"Nagtegaal M."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/author"van Horssen J."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/name"Acta Neuropathol"xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/pages"403-410"xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/title"MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet."xsd:string
http://purl.uniprot.org/citations/17628813http://purl.uniprot.org/core/volume"114"xsd:string
http://purl.uniprot.org/citations/17628813http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/17628813
http://purl.uniprot.org/citations/17628813http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/17628813
http://purl.uniprot.org/uniprot/O00468#attribution-C78A38D030D88D4BB413CE75CC709FCDhttp://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/17628813
http://purl.uniprot.org/uniprot/Q14118#attribution-C78A38D030D88D4BB413CE75CC709FCDhttp://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/17628813