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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: haucke v. 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.
Clathrin-mediated endocytosis at synapses.
Jung N, Haucke V. Jung N, et al. Among authors: haucke v. Traffic. 2007 Sep;8(9):1129-36. doi: 10.1111/j.1600-0854.2007.00595.x. Epub 2007 Jun 5. Traffic. 2007. PMID: 17547698 Free article. Review.
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: haucke v. J Biol Chem. 2016 Jul 1;291(27):14170-14184. doi: 10.1074/jbc.M115.710947. Epub 2016 May 11. J Biol Chem. 2016. PMID: 27226546 Free PMC article.
Endocytosis in the adaptation to cellular stress.
López-Hernández T, Haucke V, Maritzen T. López-Hernández T, et al. Among authors: haucke v. Cell Stress. 2020 Aug 18;4(10):230-247. doi: 10.15698/cst2020.10.232. Cell Stress. 2020. PMID: 33024932 Free PMC article. Review.
255 results