| Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism T López-Hernández, MC Ridder, M Montolio, X Capdevila-Nortes, ... The American Journal of Human Genetics 88 (4), 422-432, 2011 | 191 | 2011 |
| GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl− channel auxiliary subunit E Jeworutzki, T López-Hernández, X Capdevila-Nortes, S Sirisi, ... Neuron 73 (5), 951-961, 2012 | 149 | 2012 |
| Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts T López-Hernández, S Sirisi, X Capdevila-Nortes, M Montolio, ... Human molecular genetics 20 (16), 3266-3277, 2011 | 110 | 2011 |
| Lysosomal dysfunction caused by cellular accumulation of silica nanoparticles I Schütz, T Lopez-Hernandez, Q Gao, D Puchkov, S Jabs, D Nordmeyer, ... Journal of Biological Chemistry 291 (27), 14170-14184, 2016 | 101 | 2016 |
| A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy I Helbig, T Lopez-Hernandez, O Shor, P Galer, S Ganesan, M Pendziwiat, ... The American Journal of Human Genetics 104 (6), 1060-1072, 2019 | 90 | 2019 |
| Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model A Duarri, ML de Heredia, X Capdevila-Nortes, MC Ridder, M Montolio, ... Neurobiology of disease 43 (1), 228-238, 2011 | 87 | 2011 |
| Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects A Duarri, O Teijido, T Lopez-Hernandez, GC Scheper, H Barriere, I Boor, ... Human Molecular Genetics 17 (23), 3728-3739, 2008 | 73 | 2008 |
| Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents X Capdevila-Nortes, T Lopez-Hernandez, PM Apaja, M López de Heredia, ... Human molecular genetics 22 (21), 4405-4416, 2013 | 61 | 2013 |
| Endocytic regulation of cellular ion homeostasis controls lysosome biogenesis T López-Hernández, D Puchkov, E Krause, T Maritzen, V Haucke Nature Cell Biology 22 (7), 815-827, 2020 | 43 | 2020 |
| Endocytosis in the adaptation to cellular stress T López-Hernández, V Haucke, T Maritzen Cell Stress 4 (10), 230, 2020 | 41 | 2020 |
| Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans S Sirisi, M Folgueira, T López-Hernández, L Minieri, C Pérez-Rius, ... Human molecular genetics 23 (19), 5069-5086, 2014 | 41 | 2014 |
| Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy S Sirisi, X Elorza-Vidal, T Arnedo, M Armand-Ugón, G Callejo, ... Human Molecular Genetics 26 (13), 2436-2450, 2017 | 34 | 2017 |
| GlialCAM, a CLC-2 Cl-channel subunit, activates the slow gate of CLC chloride channels E Jeworutzki, L Lagostena, X Elorza-Vidal, T López-Hernández, ... Biophysical journal 107 (5), 1105-1116, 2014 | 33 | 2014 |
| Endocytic adaptor proteins in health and disease: Lessons from model organisms and human mutations D Azarnia Tehran, T Lopez-Hernandez, T Maritzen Cells 8 (11), 1345, 2019 | 31 | 2019 |
| Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy T Arnedo, T López‐Hernández, E Jeworutzki, X Capdevila‐Nortes, ... Human Mutation 35 (10), 1175-1178, 2014 | 26 | 2014 |
| Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective R Estevez, X Elorza-Vidal, H Gaitan-Penas, C Perez-Rius, ... European Journal of Medical Genetics 61 (1), 50-60, 2018 | 23 | 2018 |
| Clathrin-independent endocytic retrieval of SV proteins mediated by the clathrin adaptor AP-2 at mammalian central synapses T López-Hernández, K Takenaka, Y Mori, P Kongpracha, S Nagamori, ... Elife 11, e71198, 2022 | 14 | 2022 |
| A modification of the split-tobacco etch virus method for monitoring interactions between membrane proteins in mammalian cells X Capdevila-Nortes, T López-Hernández, F Ciruela, R Estévez Analytical biochemistry 423 (1), 109-118, 2012 | 13 | 2012 |
| An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families L Gort, E Quintana, S Moliner, L González-Quereda, T López-Hernández, ... Medicina clínica 132 (18), 709-711, 2009 | 9 | 2009 |
| An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families L Gort, E Quintana, S Moliner, L González-Quereda, T López-Hernández, ... Medicina clínica 132 (18), 709-711, 2009 | 9 | 2009 |
