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Year Number of Results
2008 1
2009 1
2011 3
2012 2
2013 1
2014 3
2016 1
2017 2
2018 1
2019 2
2020 2
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18 results
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Page 1
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Among authors: lopez hernandez t. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.
Estévez R, Elorza-Vidal X, Gaitán-Peñas H, Pérez-Rius C, Armand-Ugón M, Alonso-Gardón M, Xicoy-Espaulella E, Sirisi S, Arnedo T, Capdevila-Nortes X, López-Hernández T, Montolio M, Duarri A, Teijido O, Barrallo-Gimeno A, Palacín M, Nunes V. Estévez R, et al. Among authors: lopez hernandez t. Eur J Med Genet. 2018 Jan;61(1):50-60. doi: 10.1016/j.ejmg.2017.10.013. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079544 Review.
Endocytic regulation of cellular ion homeostasis controls lysosome biogenesis.
López-Hernández T, Puchkov D, Krause E, Maritzen T, Haucke V. López-Hernández T, et al. Nat Cell Biol. 2020 Jul;22(7):815-827. doi: 10.1038/s41556-020-0535-7. Epub 2020 Jun 29. Nat Cell Biol. 2020. PMID: 32601373
Lysosomal Dysfunction Caused by Cellular Accumulation of Silica Nanoparticles.
Schütz I, Lopez-Hernandez T, Gao Q, Puchkov D, Jabs S, Nordmeyer D, Schmudde M, Rühl E, Graf CM, Haucke V. Schütz I, et al. Among authors: lopez hernandez t. J Biol Chem. 2016 Jul 1;291(27):14170-84. doi: 10.1074/jbc.M115.710947. Epub 2016 May 11. J Biol Chem. 2016. PMID: 27226546 Free PMC article.
Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.
Sirisi S, Elorza-Vidal X, Arnedo T, Armand-Ugón M, Callejo G, Capdevila-Nortes X, López-Hernández T, Schulte U, Barrallo-Gimeno A, Nunes V, Gasull X, Estévez R. Sirisi S, et al. Among authors: lopez hernandez t. Hum Mol Genet. 2017 Jul 1;26(13):2436-2450. doi: 10.1093/hmg/ddx134. Hum Mol Genet. 2017. PMID: 28398517
Ramping up the autophagy-lysosome system to cope with osmotic stress.
López-Hernández T, Maritzen T, Haucke V. López-Hernández T, et al. Autophagy. 2020 Aug 4:1-2. doi: 10.1080/15548627.2020.1798065. Online ahead of print. Autophagy. 2020. PMID: 32684085
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.
Arnedo T, López-Hernández T, Jeworutzki E, Capdevila-Nortes X, Sirisi S, Pusch M, Estévez R. Arnedo T, et al. Among authors: lopez hernandez t. Hum Mutat. 2014 Oct;35(10):1175-8. doi: 10.1002/humu.22622. Epub 2014 Aug 18. Hum Mutat. 2014. PMID: 25044933
GlialCAM, a CLC-2 Cl(-) channel subunit, activates the slow gate of CLC chloride channels.
Jeworutzki E, Lagostena L, Elorza-Vidal X, López-Hernández T, Estévez R, Pusch M. Jeworutzki E, et al. Among authors: lopez hernandez t. Biophys J. 2014 Sep 2;107(5):1105-1116. doi: 10.1016/j.bpj.2014.07.040. Biophys J. 2014. PMID: 25185546 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, Estévez R, Barrallo-Gimeno A. Sirisi S, et al. Among authors: lopez hernandez t. Hum Mol Genet. 2014 Oct 1;23(19):5069-86. doi: 10.1093/hmg/ddu231. Epub 2014 May 12. Hum Mol Genet. 2014. PMID: 24824219 Free article.
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