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Endocytosis in the adaptation to cellular stress.
López-Hernández T, Haucke V, Maritzen T. López-Hernández T, et al. Cell Stress. 2020 Aug 18;4(10):230-247. doi: 10.15698/cst2020.10.232. Cell Stress. 2020. PMID: 33024932 Free PMC article. Review.
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 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. 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.
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
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS. López-Hernández T, et al. Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17. Am J Hum Genet. 2011. PMID: 21419380 Free PMC article.
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