Cellular and disease functions of the Prader–Willi Syndrome geneMAGEL2
| العنوان: | Cellular and disease functions of the Prader–Willi Syndrome geneMAGEL2 |
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| المؤلفون: | Klementina Fon Tacer, Patrick Ryan Potts |
| المصدر: | Biochemical Journal. 474:2177-2190 |
| بيانات النشر: | Portland Press Ltd., 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, Protein family, biology, Retromer, Endosome, Cell Biology, Biochemistry, Deubiquitinating enzyme, Ubiquitin ligase, Cell biology, 03 medical and health sciences, 030104 developmental biology, Membrane protein, Ubiquitin, biology.protein, Molecular Biology, Actin nucleation |
| الوصف: | Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader–Willi Syndrome (PWS) and Schaaf–Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein complex consisting of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme. The MAGEL2-USP7-TRIM27 (or MUST) complex facilitates the retromer recycling pathway through ubiquitination and activation of the WASH actin nucleation promoting factor. This review provides an overview of the MAGE protein family of ubiquitin ligases regulators and details the molecular and cellular role of MAGEL2 in ubiquitination, actin regulation and endosomal sorting processes, as well as MAGEL2 implications in PWS and SHFYNG disorders. The physiological functions of MAGEL2, elucidated through the study of Magel2 knockout mouse models, are also discussed. |
| تدمد: | 1470-8728 0264-6021 |
| DOI: | 10.1042/bcj20160616 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::712a2dc51e3f0a2f60563121ff1e8ea9 https://doi.org/10.1042/bcj20160616 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi...........712a2dc51e3f0a2f60563121ff1e8ea9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14708728 02646021 |
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| DOI: | 10.1042/bcj20160616 |