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Physiology of Brain Transport Diseases

principal investigator : Raúl Estévez restevez@ub.edu Department: Ciències Fisiològiques II (Campus de Bellvitge)/Unitat de Fisiologia Center: Facultat de Medicina Institution: Universitat de Barcelona (UB), IDIBELL Members: 7 Research lines: Chloride channels and their involvement in inherited diseases Areas:  Central Nervous System Disorders   Signalling   Glial cells  Keywords: chloride channels, regulatory proteins, homeostasis, leukodystrophy, excitability Publications: 1. 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, Thomas J Jentsch, Gasull X, Pusch M*, Estévez R*. “GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl- channel auxiliary subunit”. Neuron 73: 951-961(2012)  2. López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estévez R. “Molecular mechanisms of MLC1 and GlialCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts”. Hum Mol Genet 20, 3266-3277 (2011).  3. Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R. “Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts : mutations in MLC1 cause folding defects”. Hum Mol Genet. 17, 3728-3739 (2008). 11 citations Group Web site