WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy

por Bakula, Daniela, Müller, Amelie J., Zuleger, Theresia, Takacs, Zsuzsanna, Franz-Wachtel, Mirita, Thost, Ann-Katrin, Brigger, Daniel, Tschan, Mario P., Frickey, Tancred, Robenek, Horst, Macek, Boris, Proikas-Cezanne, Tassula
Publicado 2017

Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders

por Zhou, Jian, Hamdan, Hamdan, Yalamanchili, Hari Krishna, Pang, Kaifang, Pohodich, Amy E., Lopez, Joanna, Shao, Yingyao, Oses-Prieto, Juan A., Li, Lifang, Kim, Wonho, Durham, Mark A., Bajikar, Sameer S., Palmer, Donna J., Ng, Philip, Thompson, Michelle L., Bebin, E. Martina, Müller, Amelie J., Kuechler, Alma, Kampmeier, Antje, Haack, Tobias B., Burlingame, Alma L., Liu, Zhandong, Rasband, Matthew N., Zoghbi, Huda Y.
Publicado 2022

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

por Falb, Ruth J, Müller, Amelie J, Klein, Wolfram, Grimmel, Mona, Grasshoff, Ute, Spranger, Stephanie, Stöbe, Petra, Gauck, Darja, Kuechler, Alma, Dikow, Nicola, Schwaibold, Eva M C, Schmidt, Christoph, Averdunk, Luisa, Buchert, Rebecca, Heinrich, Tilman, Prodan, Natalia, Park, Joohyun, Kehrer, Martin, Sturm, Marc, Kelemen, Olga, Hartmann, Silke, Horn, Denise, Emmerich, Dirk, Hirt, Nina, Neumann, Armin, Kristiansen, Glen, Gembruch, Ulrich, Haen, Susanne, Siebert, Reiner, Hentze, Sabine, Hoopmann, Markus, Ossowski, Stephan, Waldmüller, Stephan, Beck-Wödl, Stefanie, Gläser, Dieter, Tekesin, Ismail, Distelmaier, Felix, Riess, Olaf, Kagan, Karl-Oliver, Dufke, Andreas, Haack, Tobias B
Publicado 2023

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

por Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep
Publicado 2022