دورية أكاديمية
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review
| العنوان: | Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review |
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| المؤلفون: | Livia Bernardi, Amalia C. Bruni |
| المصدر: | International Journal of Molecular Sciences, Vol 20, Iss 14, p 3606 (2019) |
| بيانات النشر: | MDPI AG, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | Prion protein mutation (PrP mutation), PrP N-terminal domain, PrP C-terminal domain, interdomain cis interaction, Proline, PRNP gene, dementia, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Inherited mutations in the Prion protein (PrP), encoded by the PRNP gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt−Jacob disease (CJD), Gerstmann−Sträussler−Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI). Notably, PRNP mutations have also been described in clinical pictures resembling other neurodegenerative diseases, such as frontotemporal dementia. Regarding the pathogenesis, it has been observed that these point mutations are located in the C-terminal region of the PRNP gene and, currently, the potential significance of the N-terminal domain has largely been underestimated. The purpose of this report is to review and provide current insights into the pathogenic mechanisms of PRNP mutations, emphasizing the differences between the C- and N-terminal regions and focusing, in particular, on the lesser-known flexible N-terminal, for which recent biophysical evidence has revealed a physical interaction with the globular C-terminal domain of the cellular prion protein (PrPC). |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 |
| Relation: | https://www.mdpi.com/1422-0067/20/14/3606; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms20143606 |
| URL الوصول: | https://doaj.org/article/bc899cef26bc41bd8f9a385f4f1f5906 |
| رقم الأكسشن: | edsdoj.bc899cef26bc41bd8f9a385f4f1f5906 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 |
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| DOI: | 10.3390/ijms20143606 |