دورية أكاديمية
Molecular pathways in sporadic PD.
| العنوان: | Molecular pathways in sporadic PD. |
|---|---|
| المؤلفون: | Valente, Enza Maria, Arena, Giuseppe, Torosantucci, Liliana, Gelmetti, Vania |
| المصدر: | Parkinsonism & related disorders, 18 Suppl 1, S71-3 (2012) |
| سنة النشر: | 2012 |
| المجموعة: | University of Luxembourg: ORBilu - Open Repository and Bibliography |
| مصطلحات موضوعية: | Animals, Genetic Variation/genetics, Humans, Neural Pathways/enzymology/metabolism, Parkinson Disease/enzymology/genetics/pathology, Signal Transduction/genetics, Ubiquitin-Protein Ligases/genetics, alpha-Synuclein/genetics, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire |
| الوصف: | peer reviewed ; Over the last decade, several autosomal dominant and recessive genes causative of Parkinson's disease (PD) have been identified. The functional studies on their protein products and the pathogenetic effect related to their mutations have greatly contributed to understand the many cellular pathways leading to neurodegeneration, that include oxidative stress damage, mitochondrial dysfunction, misfolded protein stress and impairment of cellular clearance systems, namely the ubiquitin-proteasome system (UPS) and the autophagy pathway. Although mendelian genes are responsible only for a small subset of PD patients, it is expected that the same pathogenetic mechanisms could play a relevant role also in the more frequent sporadic PD, that is currently recognized as a multifactorial disorder. In this model, different genetic and environmental factors, either playing a protective or a susceptibility role, variably interact to reach a threshold of disease over which PD will become clinically manifest. As an example, mutations or multiplication of the alpha-synuclein gene cause autosomal dominant PD, while common genetic variants at the same locus have been consistently associated to the risk of developing PD by genome-wide association studies. These findings are opening novel interesting perspectives to identify critical molecular pathways leading to neurodegeneration. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1353-8020 1873-5126 |
| العلاقة: | urn:issn:1353-8020; urn:issn:1873-5126; https://orbilu.uni.lu/handle/10993/54787Test; info:hdl:10993/54787; https://orbilu.uni.lu/bitstream/10993/54787/1/Valente%20et%20al.pdfTest; info:pmid:22166460 |
| الإتاحة: | https://orbilu.uni.lu/handle/10993/54787Test https://orbilu.uni.lu/bitstream/10993/54787/1/Valente%20et%20al.pdfTest |
| حقوق: | open access ; http://purl.org/coar/access_right/c_abf2Test ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.4533775C |
| قاعدة البيانات: | BASE |
| تدمد: | 13538020 18735126 |
|---|