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

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

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-18 (2017)

During autophagy, AMPK and mTOR associate with ULK1 and regulate phosphatidylinositol 3-phosphate (PtdIns3P) production that mediates autophagosome formation via WIPI proteins. Here the authors show WIPI3 and WIPI4 have a scaffolding function upstrea

Externí odkaz: https://doaj.org/article/56d33a8705964370b0a1710e530dcc35

Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex

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

Publikováno v: Journal of Medical Genetics. 60:48-56

BackgroundFetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc67063fced297732b175a2a131ead1
https://doi.org/10.1136/jmedgenet-2021-108064

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

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

Publikováno v: Clinical genetics
CLINICAL GENETICS
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b95d713d1109bb0b4e3b02c70735ab1
https://hdl.handle.net/10067/1891320151162165141

DLG4-related synaptopathy: a new rare brain disorder

Autor: Edgard Verdura, Alex MacKenzie, Rolph Pfundt, Tobias B. Haack, Ange Line Bruel, Paulino Gómez-Puertas, Anna C.E. Hurst, Bert B.A. de Vries, Stella A. de Man, Maria Johansson Soller, Bregje W.M. van Bon, Elisabeth Sarrazin, Agustí Rodríguez-Palmero, Stephan Waldmüller, Melanie O’Leary, Anne Sophie Denommé-Pichon, Bitten Schönewolf-Greulich, Joseph T. Shieh, V. A. Bjerregaard, Vahid Bahrambeigi, Malin Kvarnung, Agatha Schlüter, Anne Marie Bisgaard, Ingrid M.B.H. van de Laar, Elisa Giorgio, Lars Feuk, Mieke M. van Haelst, Thomas D. Challman, Ineke van de Burgt, Sulagna Kushary, Simone F. Reiter, David B. Everman, Zeynep Tümer, Giorgia Mandrile, Conny M. A. van Ravenswaaij-Arts, Charles Shaw-Smith, Juliane Hoyer, Chad R. Haldeman-Englert, Lotte Kleinendorst, Bryce A. Mendelsohn, Anna Lindstrand, Christine Coubes, Gea Beunders, Sixto García-Miñaur, Antonio Vitobello, Melissa Maria Boerrigter, Alysia Kern Lovgren, Anya Revah-Politi, Carlos E. Prada, Bertrand Isidor, Elena Repnikova, Stephanie Spranger, Esmée van Drie, Frédéric Tran Mau-Them, Zohra Shad, Ben Pode-Shakked, Aurora Pujol, Christiane Zweier, Bjørn Ivar Haukanes, David Gómez-Andrés, Kathleen A. Leppig, Marta Pacio-Míguez, Motti Shohat, Yuval Landau, Benjamin Cogné, Frances Elmslie, Kimberly A. Aldinger, Anita Rauch, Juliann M. Savatt, Nicolas Gruchy, Sharon Whiting, William B. Dobyns, Thomas J. Dye, Sebastien Moutton, Heidi Thiese, Setareh Moghadasi, Iñigo Marcos-Alcalde, Jenny Morton, Sumit Parikh, María Palomares-Bralo, Stéphanie Arpin, Tracy S. Gertler, Meredith J. Ross, Bernt Popp, Amelie J. Müller, Claudia A. L. Ruivenkamp

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-020-01075-9⟩
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, ' DLG4-related synaptopathy : a new rare brain disorder ', Genetics in Medicine, vol. 23, no. 5, pp. 888-899 . https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23(5), 888-899. Lippincott Williams & Wilkins
Genetics in medicine, 23(5), 888-899. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Genetics in Medicine. Nature Publishing Group
Genetics in Medicine, 23(5), 888-899. SPRINGERNATURE
Genetics in Medicine, 23, 888-899
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Genetics in Medicine, 23(5), 888-899. Lippincott Williams and Wilkins

Contains fulltext : 245031.pdf (Publisher’s version ) (Closed access) PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0910c06077f7edaab62257149bc8fa36
https://hal-normandie-univ.archives-ouvertes.fr/hal-03193180

Function of human WIPI proteins in autophagosomal rejuvenation of endomembranes?

Autor: Tassula Proikas-Cezanne, Amelie J. Müller

Publikováno v: FEBS Letters. 589:1546-1551

Despite the availability of a large pool of experimental approaches and hypothetical considerations, the hunt for the enigmatic membrane origin of autophagosomes is still on. In mammalian cells proposed scenarios for the formation of the autophagosom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcb4cbcc0f2f7834332c7d7ec0a4c4e6
https://doi.org/10.1016/j.febslet.2015.05.008