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 Online-Ressource | |
| Verfasst von: | Marcogliese, Paul [VerfasserIn]  |
| Schwaibold, Eva [VerfasserIn] | |
| Titel: | Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases |
| Verf.angabe: | Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto |
| E-Jahr: | 2022 |
| Jahr: | 15 March 2022 |
| Umfang: | 35 S. |
| Fussnoten: | Gesehen am 02.02.2023 |
| Titel Quelle: | Enthalten in: Cell reports |
| Ort Quelle: | Maryland Heights, MO : Cell Press, 2012 |
| Jahr Quelle: | 2022 |
| Band/Heft Quelle: | 38(2022), 11, Artikel-ID 110517, Seite 1-35 |
| ISSN Quelle: | 2211-1247 |
| Abstract: | Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through “humanization” rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases. |
| DOI: | doi:10.1016/j.celrep.2022.110517 |
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt. Volltext: https://doi.org/10.1016/j.celrep.2022.110517 |
| Volltext: https://www.sciencedirect.com/science/article/pii/S2211124722002534 | |
| DOI: https://doi.org/10.1016/j.celrep.2022.110517 | |
| Datenträger: | Online-Ressource |
| Sprache: | eng |
| Sach-SW: | autism spectrum disorder |
| functional genomics | |
| humanization | |
| missense variants | |
| rare genetic diseases | |
| T2A-GAL4 | |
| TG4 | |
| undiagnosed diseases | |
| K10plus-PPN: | 1833060547 |
| Verknüpfungen: | → Zeitschrift |
