| Online-Ressource |
Verfasst von: | Tapken, Ines Marlene [VerfasserIn]  |
| Schweitzer, Theresa [VerfasserIn]  |
| Paganin, Martina [VerfasserIn]  |
| Schüning, Tobias [VerfasserIn]  |
| Detering, Nora Tula [VerfasserIn]  |
| Niesert, Moritz [VerfasserIn]  |
| Saffari, Afshin [VerfasserIn]  |
| Hensel, Niko [VerfasserIn]  |
| Ziegler, Andreas [VerfasserIn]  |
Titel: | The systemic complexity of a monogenic disease |
Titelzusatz: | the molecular network of spinal muscular atrophy |
Verf.angabe: | Ines Tapken, Theresa Schweitzer, Martina Paganin, Tobias Schüning, Nora T Detering, Gaurav Sharma, Moritz Niesert, Afshin Saffari, Daniela Kuhn, Amy Glynn, Federica Cieri, Pamela Santonicola, Claire Cannet, Florian Gerstner, Kiterie M E Faller, Yu-Ting Huang, Rashmi Kothary, Thomas H Gillingwater, Elia Di Schiavi, Christian M Simon, Niko Hensel, Andreas Ziegler, Gabriella Viero, Andreas Pich and Peter Claus |
E-Jahr: | 2025 |
Jahr: | February 2025 |
Umfang: | 17 S. |
Illustrationen: | Diagramme |
Fussnoten: | Veröffentlicht: 26. August 2024 ; Gesehen am 10.06.2025 |
Titel Quelle: | Enthalten in: Brain |
Ort Quelle: | Oxford : Oxford Univ. Press, 1878 |
Jahr Quelle: | 2025 |
Band/Heft Quelle: | 148(2025), 2 vom: Feb., Seite 580-596 |
ISSN Quelle: | 1460-2156 |
Abstract: | Monogenic diseases are well-suited paradigms for the causal analysis of disease-driving molecular patterns. Spinal muscular atrophy (SMA) is one such monogenic model, caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. Although several functions of the SMN protein have been studied, single functions and pathways alone do not allow the identification of crucial disease-driving molecules.Here, we analysed the systemic characteristics of SMA, using proteomics, phosphoproteomics, translatomics and interactomics, from two mouse models with different disease severities and genetics.This systems approach revealed subnetworks and proteins characterizing commonalities and differences of both models. To link the identified molecular networks with the disease-causing SMN protein, we combined SMN-interactome data with both proteomes, creating a comprehensive representation of SMA. By this approach, disease hubs and bottlenecks between SMN and downstream pathways could be identified.Linking a disease-causing molecule with widespread molecular dysregulations via multiomics is a concept for analyses of monogenic diseases. |
DOI: | doi:10.1093/brain/awae272 |
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.
Resolving-System: https://doi.org/10.1093/brain/awae272 |
| DOI: https://doi.org/10.1093/brain/awae272 |
Datenträger: | Online-Ressource |
Sprache: | eng |
K10plus-PPN: | 190256507X |
Verknüpfungen: | → Zeitschrift |
¬The¬ systemic complexity of a monogenic disease / Tapken, Ines Marlene [VerfasserIn]; February 2025 (Online-Ressource)