Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

Autor: Luisa Averdunk, Khalid Al‐Thihli, Harald Surowy, Hermann‐Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al‐Maawali, Dagmar Wieczorek

Publikováno v: Clinical Genetics. 103:484-491

Protein translation is an essential cellular process and dysfunctional protein translation causes various neurodevelopmental disorders. The eukaryotic translation elongation factor 1A (eEF1A) delivers aminoacyl-tRNA to the ribosome, while the eEF1B c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fc8408e7430961b4e4d7e59ead5b2e3
https://doi.org/10.1111/cge.14290

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Autor: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Autor: Daniëlle G. M. Bosch, Nicole Corsten-Janssen, Colin A Ellis, Dirk Lefeber, Alfredo Brusco, Irene Bagnasco, Andrea Accogli, Ellen Macnamara, Carlo Di Bonaventura, Giovanna Zorzi, Scott Demarest, Erik A. Eklund, Noëlle Mercier, Carlo Marcelis, Rong Zhang, Ban H Edani, Camilo Toro, Ziv Gan-Or, Simone Pizzi, Kariona A. Grabińska, Nienke E. Verbeek, Karen W. Gripp, Simone Martinelli, Caterina Caputi, Luca Pannone, Marco Tartaglia, Felix Distelmaier, Louise Amlie-Wolf, Luisa Averdunk, Anne-Sophie Alaix, Renzo Guerrini, Laura Masuelli, Marwan Shinawi, Sunita Venkateswaran, Joseph Peeden, Hana Hansikova, Lucie Zdrazilova, William C. Sessa, Serena Galosi, Renske Oegema, Patricia G Wheeler, Kristin W. Barañano, Vincenzo Leuzzi, Frances Elmslie, Fadi F. Hamdan, Roberto Bei, Jean-Marc Good, Isis Atallah, Myriam Srour, Erik-Jan Kamsteeg

Publikováno v: Brain, 145, 1, pp. 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223

Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012cb40531119a7d00e4415b8540c52c
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Autor: Margot R.F. Reijnders, Annette Seibt, Melanie Brugger, Ideke J.C. Lamers, Torsten Ott, Oliver Klaas, Judit Horváth, Ailsa M.S. Rose, Isabel M. Craghill, Theresa Brunet, Elisabeth Graf, Katharina Mayerhanser, Debby Hellebrekers, David Pauck, Eva Neuen-Jacob, Richard J.T. Rodenburg, Dagmar Wieczorek, Dirk Klee, Ertan Mayatepek, Gertjan Driessen, Robert Bindermann, Luisa Averdunk, Klaus Lohmeier, Margje Sinnema, Alexander P.A. Stegmann, Ronald Roepman, James A. Poulter, Felix Distelmaier

PURPOSE: Mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) regulates cell growth in response to nutritional status. Central to the mTORC1 function is the Rag-GTPase heterodimer. One component of the Rag heterodimer is RagC (Ras-related GTP-bi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89b484ac490f63a015f5c30c47ab25ec
https://doi.org/10.1016/j.gim.2023.100838

RANBP2 Mutation Mimicking Viral Encephalitis

Autor: Luisa Averdunk, Dirk Klee, Dagmar Wieczorek, Tobias B. Haack, Felix Distelmaier

Publikováno v: Neuropediatrics. 53(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0710384cf96c400c65e3289d51a298a8
https://pubmed.ncbi.nlm.nih.gov/35381605