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Animal models for Coffin-Lowry syndrome: RSK2 and nervous system dysfunction
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-176799
- Loss of function mutations in the rsk2 gene cause Coffin-Lowry syndrome (CLS), which is associated with multiple symptoms including severe mental disabilities. Despite the characterization of ribosomal S6 kinase 2 (RSK2) as a protein kinase acting as a downstream effector of the well characterized ERK MAP-kinase signaling pathway, it turns out to be a challenging task to link RSK2 to specific neuronal processes dysregulated in case of mutation. Animal models such as mouse and Drosophila combine advanced genetic manipulation tools with in vivoLoss of function mutations in the rsk2 gene cause Coffin-Lowry syndrome (CLS), which is associated with multiple symptoms including severe mental disabilities. Despite the characterization of ribosomal S6 kinase 2 (RSK2) as a protein kinase acting as a downstream effector of the well characterized ERK MAP-kinase signaling pathway, it turns out to be a challenging task to link RSK2 to specific neuronal processes dysregulated in case of mutation. Animal models such as mouse and Drosophila combine advanced genetic manipulation tools with in vivo imaging techniques, high-resolution connectome analysis and a variety of behavioral assays, thereby allowing for an in-depth analysis for gene functions in the nervous system. Although modeling mental disability in animal systems has limitations because of the complexity of phenotypes, the influence of genetic variation and species-specific characteristics at the neural circuit and behavioral level, some common aspects of RSK2 function in the nervous system have emerged, which will be presented. Only with this knowledge our understanding of the pathophysiology of CLS can be improved, which might open the door for development of potential intervention strategies.…
Autor(en): | Matthias Fischer, Thomas Raabe |
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URN: | urn:nbn:de:bvb:20-opus-176799 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Institut für Medizinische Strahlenkunde und Zellforschung |
Medizinische Fakultät / Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie | |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | Frontiers in Behavioral Neuroscience |
Erscheinungsjahr: | 2018 |
Band / Jahrgang: | 12 |
Heft / Ausgabe: | 106 |
Originalveröffentlichung / Quelle: | Frontiers in Behavioral Neuroscience 2018, Volume 12, Article 106. DOI: 10.3389/fnbeh.2018.00106 |
DOI: | https://doi.org/10.3389/fnbeh.2018.00106 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie |
Freie Schlagwort(e): | Coffin-Lowry syndrome; Drosophila model; RSK2; behavior; mental disorders; mouse model; neuronal dysfunction |
Datum der Freischaltung: | 26.02.2019 |
Sammlungen: | Open-Access-Publikationsfonds / Förderzeitraum 2018 |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |