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	1.	Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations. [electronic resource] by Azarnia Tehran, Domenico López-Hernández, Tania Maritzen, Tanja Producer: 20200817 In: Cells vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A modification of the split-tobacco etch virus method for monitoring interactions between membrane proteins in mammalian cells. [electronic resource] by Capdevila-Nortes, Xavier López-Hernández, Tania Ciruela, Francisco Estévez, Raúl Producer: 20120709 In: Analytical biochemistry vol. 423 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	GlialCAM, a CLC-2 Cl(-) channel subunit, activates the slow gate of CLC chloride channels. [electronic resource] by Jeworutzki, Elena Lagostena, Laura Elorza-Vidal, Xabier López-Hernández, Tania Estévez, Raúl Pusch, Michael Producer: 20150902 In: Biophysical journal vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families. [electronic resource] by Gort, Laura Quintana, Ester Moliner, Sonia González-Quereda, Lidia López-Hernández, Tania Briones, Paz Producer: 20090917 In: Medicina clinica vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy. [electronic resource] by Arnedo, Tanit López-Hernández, Tania Jeworutzki, Elena Capdevila-Nortes, Xavier Sirisi, Sònia Pusch, Michael Estévez, Raúl Producer: 20150609 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Lysosomal Dysfunction Caused by Cellular Accumulation of Silica Nanoparticles. [electronic resource] by Schütz, Irene Lopez-Hernandez, Tania Gao, Qi Puchkov, Dmytro Jabs, Sabrina Nordmeyer, Daniel Schmudde, Madlen Rühl, Eckart Graf, Christina M Haucke, Volker Producer: 20161222 In: The Journal of biological chemistry vol. 291 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. [electronic resource] by Capdevila-Nortes, Xavier López-Hernández, Tania Apaja, Pirjo M López de Heredia, Miguel Sirisi, Sònia Callejo, Gerard Arnedo, Tanit Nunes, Virginia Lukacs, Gergely L Gasull, Xavier Estévez, Raúl Producer: 20140430 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy. [electronic resource] by Sirisi, Sònia Elorza-Vidal, Xabier Arnedo, Tanit Armand-Ugón, Mercedes Callejo, Gerard Capdevila-Nortes, Xavier López-Hernández, Tania Schulte, Uwe Barrallo-Gimeno, Alejandro Nunes, Virginia Gasull, Xavier Estévez, Raúl Producer: 20171211 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. [electronic resource] by López-Hernández, Tania Sirisi, Sònia Capdevila-Nortes, Xavier Montolio, Marisol Fernández-Dueñas, Victor Scheper, Gert C van der Knaap, Marjo S Casquero, Pilar Ciruela, Francisco Ferrer, Isidre Nunes, Virginia Estévez, Raúl Producer: 20111110 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. [electronic resource] by Duarri, Anna Teijido, Oscar López-Hernández, Tania Scheper, Gert C Barriere, Herve Boor, Ilja Aguado, Fernando Zorzano, Antonio Palacín, Manuel Martínez, Albert Lukacs, Gergely L van der Knaap, Marjo S Nunes, Virginia Estévez, Raúl Producer: 20081229 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. [electronic resource] by López-Hernández, Tania Ridder, Margreet C Montolio, Marisol Capdevila-Nortes, Xavier Polder, Emiel Sirisi, Sònia Duarri, Anna Schulte, Uwe Fakler, Bernd Nunes, Virginia Scheper, Gert C Martínez, Albert Estévez, Raúl van der Knaap, Marjo S Producer: 20110606 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit. [electronic resource] by Jeworutzki, Elena López-Hernández, Tania Capdevila-Nortes, Xavier Sirisi, Sònia Bengtsson, Luiza Montolio, Marisol Zifarelli, Giovanni Arnedo, Tanit Müller, Catrin S Schulte, Uwe Nunes, Virginia Martínez, Albert Jentsch, Thomas J Gasull, Xavier Pusch, Michael Estévez, Raúl Producer: 20120501 In: Neuron vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. [electronic resource] by Sirisi, Sònia Folgueira, Mónica López-Hernández, Tania Minieri, Laura Pérez-Rius, Carla Gaitán-Peñas, Héctor Zang, Jingjing Martínez, Albert Capdevila-Nortes, Xavier De La Villa, Pedro Roy, Upasana Alia, A Neuhauss, Stephan Ferroni, Stefano Nunes, Virginia Estévez, Raúl Barrallo-Gimeno, Alejandro Producer: 20150528 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective. [electronic resource] by Estévez, Raúl Elorza-Vidal, Xabier Gaitán-Peñas, Héctor Pérez-Rius, Carla Armand-Ugón, Mercedes Alonso-Gardón, Marta Xicoy-Espaulella, Efren Sirisi, Sònia Arnedo, Tanit Capdevila-Nortes, Xavier López-Hernández, Tania Montolio, Marisol Duarri, Anna Teijido, Oscar Barrallo-Gimeno, Alejandro Palacín, Manuel Nunes, Virginia Producer: 20180918 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. [electronic resource] by Duarri, Anna Lopez de Heredia, Miguel Capdevila-Nortes, Xavier Ridder, Margreet C Montolio, Marisol López-Hernández, Tania Boor, Ilja Lien, Chun-Fu Hagemann, Tracy Messing, Albee Gorecki, Dariusz C Scheper, Gert C Martínez, Albert Nunes, Virginia van der Knaap, Marjo S Estévez, Raúl Producer: 20120409 In: Neurobiology of disease vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. [electronic resource] by Helbig, Ingo Lopez-Hernandez, Tania Shor, Oded Galer, Peter Ganesan, Shiva Pendziwiat, Manuela Rademacher, Annika Ellis, Colin A Hümpfer, Nadja Schwarz, Niklas Seiffert, Simone Peeden, Joseph Shen, Joseph Štěrbová, Katalin Hammer, Trine Bjørg Møller, Rikke S Shinde, Deepali N Tang, Sha Smith, Lacey Poduri, Annapurna Krause, Roland Benninger, Felix Helbig, Katherine L Haucke, Volker Weber, Yvonne G Producer: 20200311 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)