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收藏A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism
Decet, Marianna; Scott, Patrick; Kuenen, Sabine; Meftah, Douja; Swerts, Jef; Calatayud, Carles; Gallego, Sandra F.; Kaempf, Natalie; Nachman, Eliana; Praschberger, Roman; Schoovaerts, Nils; Tang, Chris C.; Eidelberg, David; Al Adawi, Samir; Al Asmi, Abdullah; Nandhagopal, Ramachandiran; Verstreken, Patrik 分享 收藏 EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutationBademosi, Adekunle T.; Decet, Marianna; Kuenen, Sabine; Calatayud, Carles; Swerts, Jef; Gallego, Sandra F.; Schoovaerts, Nils; Karamanou, Spyridoula; Louros, Nikolaos; Martin, Ella; Sibarita, Jean-Baptiste; Vints, Katlijn; Gounko, Natalia V.; Meunier, Frederic A.; Economou, Anastassios; Versees, Wim; Rousseau, Frederic; Schymkowitz, Joost; Soukup, Sandra-F.; Verstreken, Patrik 分享 收藏 Neuronal identity defines a-synuclein and tau toxicityPraschberger, Roman; Kuenen, Sabine; Schoovaerts, Nils; Kaempf, Natalie; Singh, Jeevanjot; Janssens, Jasper; Swerts, Jef; Nachman, Eliana; Calatayud, Carles; Aerts, Stein; Poovathingal, Suresh; Verstreken, Patrik 分享 收藏 Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1Jacquemyn, Julie; Kuenen, Sabine; Swerts, Jef; Pavie, Benjamin; Vijayan, Vinoy; Kilic, Ayse; Chabot, Dries; Wang, Yu-Chun; Schoovaerts, Nils; Corthout, Nikky; Verstreken, Patrik 分享 收藏 分享 收藏 分享 收藏 Lowering Synaptogyrin-3 expression rescues Tau-induced memory defects and synaptic loss in the presence of microglial activationLargo-Barrientos, Pablo; Apostolo, Nuno; Creemers, Eline; Callaerts-Vegh, Zsuzsanna; Swerts, Jef; Davies, Caitlin; McInnes, Joseph; Wierda, Keimpe; De Strooper, Bart; Spires-Jones, Tara; de Wit, Joris; Uytterhoeven, Valerie; Verstreken, Patrik 分享 收藏 Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystoniaCascalho, Ana; Foroozandeh, Joyce; Hennebel, Lise; Swerts, Jef; Klein, Christine; Rous, Stef; Gonzalez, Beatriz Dominguez; Pisani, Antonio; Meringolo, Maria; Gallego, Sandra F.; Verstreken, Patrik; Seibler, Philip; Goodchild, Rose E. 分享 收藏 TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease modelTBC1D24-TLDc-related癫痫运动诱发的肌张力障碍: 在疾病模型中通过抗氧化剂进行拯救Luthy, Kevin; Mei, Davide; Fischer, Baptiste; De Fusco, Maurizio; Swerts, Jef; Paesmans, Jone; Parrini, Elena; Lubarr, Naomi; Meijer, Inge A.; Mackenzie, Katherine M.; Lee, Wang-Tso; Cittaro, Davide; Aridon, Paolo; Schoovaerts, Nils; Versees, Wim; Verstreken, Patrik; Casari, Giorgio; Guerrini, Renzo 分享 收藏 Hsp90 Mediates Membrane Deformation and Exosome ReleaseLauwers, Elsa; Wang, Yu-Chun; Gallardo, Rodrigo; Van der Kant, Rob; Michiels, Emiel; Swerts, Jef; Baatsen, Pieter; Zaiter, Samantha S.; McAlpine, Shelli R.; Gounko, Natalia, V; Rousseau, Frederic; Schymkowitz, Joost; Verstreken, Patrik 分享 收藏 Tau association with synaptic vesicles causes presynaptic dysfunctionZhou, Lujia; McInnes, Joseph; Wierda, Keimpe; Holt, Matthew; Herrmann, Abigail G.; Jackson, Rosemary J.; Wang, Yu-Chun; Swerts, Jef; Beyens, Jelle; Miskiewicz, Katarzyna; Vilain, Sven; Dewachter, Ilse; Moechars, Diederik; De Strooper, Bart; Spires-Jones, Tara L.; De Wit, Joris; Verstreken, Patrik 分享 收藏 The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminalsVanhauwaert, Roeland; Kuenen, Sabine; Masius, Roy; Bademosi, Adekunle; Manetsberger, Julia; Schoovaerts, Nils; Bounti, Laura; Gontcharenko, Serguei; Swerts, Jef; Vilain, Sven; Picillo, Marina; Barone, Paolo; Munshi, Shashini T.; de Vrij, Femke M. S.; Kushner, Steven A.; Gounko, Natalia V.; Mandemakers, Wim; Bonifati, Vincenzo; Meunier, Frederic A.; Soukup, Sandra-Fausia; Verstreken, Patrik 分享 收藏 Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiencyVos, Melissa; Geens, Ann; Boehm, Claudia; Deaulmerie, Liesbeth; Swerts, Jef; Rossi, Matteo; Craessaerts, Katleen; Leites, Elvira P.; Seibler, Philip; Rakovic, Aleksandar; Lohnau, Thora; De Strooper, Bart; Fendt, Sarah-Maria; Morais, Vanessa A.; Klein, Christine; Verstreken, Patrik 分享 收藏 A LRRK2-Dependent EndophilinA Phosphoswitch Is Critical for Macroautophagy at Presynaptic TerminalsSoukup, Sandra-Fausia; Kuenen, Sabine; Vanhauwaert, Roeland; Manetsberger, Julia; Hernandez-Diaz, Sergio; Swerts, Jef; Schoovaerts, Nils; Vilain, Sven; Gounko, Natalia V.; Vints, Katlijn; Geens, Ann; De Strooper, Bart; Verstreken, Patrik 分享 收藏 Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic functionFischer, Baptiste; Luthy, Kevin; Paesmans, Jone; De Koninck, Charlotte; Maes, Ine; Swerts, Jef; Kuenen, Sabine; Uytterhoeven, Valerie; Verstreken, Patrik; Versees, Wim 分享 收藏 Torsins Are Essential Regulators of Cellular Lipid MetabolismGrillet, Micheline; Gonzalez, Beatriz Dominguez; Sicart, Adria; Pottler, Maria; Cascalho, Ana; Billion, Karolien; Diaz, Sergio Hernandez; Swerts, Jef; Naismith, Teresa V.; Gounko, Natalia V.; Verstreken, Patrik; Hanson, Phyllis I.; Goodchild, Rose E. 分享 收藏 Mitochondrial uncouplers inhibit clathrin-mediated endocytosis largely through cytoplasmic acidificationDejonghe, Wim; Kuenen, Sabine; Mylle, Evelien; Vasileva, Mina; Keech, Olivier; Viotti, Corrado; Swerts, Jef; Fendrych, Matyas; Ortiz-Morea, Fausto Andres; Mishev, Kiril; Delang, Simon; Scholl, Stefan; Zarza, Xavier; Heilmann, Mareike; Kourelis, Jiorgos; Kasprowicz, Jaroslaw; Nguyen, Le Son Long; Drozdzecki, Andrzej; Van Houtte, Isabelle; Szatmari, Anna-Maria; Majda, Mateusz; Baisa, Gary; Bednarek, Sebastian York; Robert, Stephanie; Audenaert, Dominique; Testerink, Christa; Munnik, Teun; Van Damme, Daniel; Heilmann, Ingo; Schumacher, Karin; Winne, Johan; Friml, Jiri; Verstreken, Patrik; Russinova, Eugenia 分享 收藏 Hsc70-4 Deforms Membranes to Promote Synaptic Protein Turnover by Endosomal MicroautophagyUytterhoeven, Valerie; Lauwers, Elsa; Maes, Ine; Miskiewicz, Katarzyna; Melo, Manuel N.; Swerts, Jef; Kuenen, Sabine; Wittocx, Rafael; Corthout, Nikky; Marrink, Siewert-Jan; Munck, Sebastian; Verstreken, Patrik 分享 收藏 分享 收藏 
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