about
Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intoleranceLocalization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cystsThe amino acid transport system y+L/4F2hc is a heteromultimeric complex.Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.GlialCAM, a CLC-2 Cl(-) channel subunit, activates the slow gate of CLC chloride channels.GlialCAM, a glial cell adhesion molecule implicated in neurological disease.Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids.Investigation of LRRC8-Mediated Volume-Regulated Anion Currents in Xenopus Oocytes.Sequential amino acid exchange across b(0,+)-like system in chicken brush border jejunum.Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.Functional and structural conservation of CBS domains from CLC chloride channels.A modification of the split-tobacco etch virus method for monitoring interactions between membrane proteins in mammalian cells.Identification and characterization of the zebrafish ClC-2 chloride channel orthologs.Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.Expression patterns of MLC1 protein in the central and peripheral nervous systems.Cisplatin activates volume sensitive LRRC8 channel mediated currents in Xenopus oocytes.CLCN1 myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia.Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.Cystinuria calls for heteromultimeric amino acid transporters.Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.Expression of LRRC8/VRAC Currents in Xenopus Oocytes: Advantages and Caveats.Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in miceChloride Channels in Astrocytes: Structure, Roles in Brain Homeostasis and Implications in DiseaseMolecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cystsGlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathyPostnatal development of the astrocyte perivascular MLC1/GlialCAM complex defines a temporal window for the gliovascular unit maturationComparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unitRole of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption
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P106
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0000-0003-1579-650X