GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel Auxiliary Subunit (Articolo in rivista)

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  • GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel Auxiliary Subunit (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.neuron.2011.12.039 (literal)
Alternative label
  • Jeworutzki E; López-Hernández T; Capdevila-Nortes X; Bengtsson L; Sirisi S; Montolio M; Zifarelli G; Arnedo T; Müller CS; Schulte U; Nunes V; Martínez A; Jentsch TJ; Gasull X; Pusch M; Estévez R (2012)
    GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel Auxiliary Subunit
    in Neuron (Camb. Mass.); Cell Press, Cambridge (Stati Uniti d'America)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Jeworutzki E; López-Hernández T; Capdevila-Nortes X; Bengtsson L; Sirisi S; Montolio M; Zifarelli G; Arnedo T; Müller CS; Schulte U; Nunes V; Martínez A; Jentsch TJ; Gasull X; Pusch M; Estévez R (literal)
Pagina inizio
  • 951 (literal)
Pagina fine
  • 961 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.sciencedirect.com/science/article/pii/S0896627312000918 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 73 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 5 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Biofisica, Consiglio Nazionale delle Ricerche, 16149 Genoa, Italy; Physiology section, Department Physiological Sciences II, School of Medicine, University of Barcelona, 08907 Barcelona, Spain; Genetic section, Department Physiological Sciences II, School of Medicine, University of Barcelona, 08907 Barcelona, Spain; Leibniz-Institut für Molekulare Pharmakologie (FMP) and Max-Delbrück-Centrum für Molekulare Medizin (MDC), D-13125 Berlin, Germany; Laboratorio de Genética Molecular-IDIBELL; U-750, Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII; U-730, Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII; Logopharm GmbH, D-79232 March-Buchheim, Germany; Department of Cell Biology, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain; Laboratory Neurophysiology, Department Physiological Sciences I, School of Medicine, University of Barcelona-IDIBAPS, 08007, Spain (literal)
Titolo
  • GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel Auxiliary Subunit (literal)
Abstract
  • Ion fluxes mediated by glial cells are required for several physiological processes such as fluid homeostasis or the maintenance of low extracellular potassium during high neuronal activity. In mice, the disruption of the Cl- channel ClC-2 causes fluid accumulation leading to myelin vacuolation. A similar vacuolation phenotype is detected in humans affected with megalencephalic leukoencephalopathy with subcortical cysts (MLC), a leukodystrophy which is caused by mutations in MLC1 or GLIALCAM. We here identify GlialCAM as a ClC-2 binding partner. GlialCAM and ClC-2 colocalize in Bergmann glia, in astrocyte-astrocyte junctions at astrocytic endfeet around blood vessels, and in myelinated fiber tracts. GlialCAM targets ClC-2 to cell junctions, increases ClC-2 mediated currents, and changes its functional properties. Disease-causing GLIALCAM mutations abolish the targeting of the channel to cell junctions. This work describes the first auxiliary subunit of ClC-2 and suggests that ClC-2 may play a role in the pathology of MLC disease. (literal)
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