From pathways to targets: understanding the mechanisms behind polyglutamine disease
- The history of polyglutamine diseases dates back approximately 20 years to the discovery of a polyglutamine repeat in the androgen receptor of SBMA followed by the identification of similar expansion mutations in Huntington’s disease, SCA1, DRPLA, and the other spinocerebellar ataxias. This common molecular feature of polyglutamine diseases suggests shared mechanisms in disease pathology and neurodegeneration of disease specific brain regions. In this review, we discuss the main pathogenic pathways including proteolytic processing, nuclear shuttling and aggregation, mitochondrial dysfunction, and clearance of misfolded polyglutamine proteins and point out possible targets for treatment.
| Author of HS Reutlingen | Hübener-Schmid, Jeannette |
|---|---|
| URN: | urn:nbn:de:bsz:rt2-opus4-62238 |
| DOI: | https://doi.org/10.1155/2014/701758 |
| ISSN: | 2314-6133 |
| Published in: | BioMed Research International |
| Publisher: | Hindawi |
| Place of publication: | New York |
| Document Type: | Journal article |
| Language: | English |
| Publication year: | 2014 |
| Volume: | 2014 |
| Page Number: | 22 |
| Article Number: | 701758 |
| DDC classes: | 570 Biowissenschaften, Biologie |
| 610 Medizin, Gesundheit | |
| Open access?: | Ja |
| Licence (German): |  Creative Commons - CC BY - Namensnennung 4.0 International |
