Publications by authors named "Xavier Capdevila-Nortes"

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Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.
Raúl Estévez, Xabier Elorza-Vidal, Héctor Gaitán-Peñas, Carla Pérez-Rius, Mercedes Armand-Ugón, Xavier Capdevila-Nortes

Eur J Med Genet· January 2018

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Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.
Sònia Sirisi, Xabier Elorza-Vidal, Tanit Arnedo, Mercedes Armand-Ugón, Gerard Callejo, Xavier Capdevila-Nortes

Hum Mol Genet· July 2017

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Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.
Xavier Capdevila-Nortes, Elena Jeworutzki, Xabier Elorza-Vidal, Alejandro Barrallo-Gimeno, Michael Pusch

J Physiol· September 2015

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Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sònia Sirisi, Mónica Folgueira, Tania López-Hernández, Laura Minieri, Carla Pérez-Rius, Xavier Capdevila-Nortes

Hum Mol Genet· October 2014

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Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.
Tanit Arnedo, Tania López-Hernández, Elena Jeworutzki, Xavier Capdevila-Nortes, Sònia Sirisi

Hum Mutat· October 2014

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Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
Xavier Capdevila-Nortes, Tania López-Hernández, Pirjo M Apaja, Miguel López de Heredia, Sònia Sirisi

Hum Mol Genet· November 2013

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A modification of the split-tobacco etch virus method for monitoring interactions between membrane proteins in mammalian cells.
Xavier Capdevila-Nortes, Tania López-Hernández, Francisco Ciruela, Raúl Estévez

Anal Biochem· April 2012

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GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Elena Jeworutzki, Tania López-Hernández, Xavier Capdevila-Nortes, Sònia Sirisi, Luiza Bengtsson

Neuron· March 2012

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Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
Margreet C Ridder, Ilja Boor, Johannes C Lodder, Nienke L Postma, Xavier Capdevila-Nortes

Brain· November 2011

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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
Tania López-Hernández, Sònia Sirisi, Xavier Capdevila-Nortes, Marisol Montolio, Victor Fernández-Dueñas

Hum Mol Genet· August 2011

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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Anna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, Margreet C Ridder, Marisol Montolio

Neurobiol Dis· July 2011

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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
Tania López-Hernández, Margreet C Ridder, Marisol Montolio, Xavier Capdevila-Nortes, Emiel Polder

Am J Hum Genet· April 2011

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