| Autor: |
Clévio, Nóbrega, Ana Teresa, Simões, Joana, Duarte-Neves, Sónia, Duarte, Ana, Vasconcelos-Ferreira, Janete, Cunha-Santos, Dina, Pereira, Magda, Santana, Cláudia, Cavadas, Luís Pereira, de Almeida |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Advances in experimental medicine and biology. 1049 |
| ISSN: |
0065-2598 |
| Popis: |
Machado-Joseph disease (MJD) is a dominantly inherited disorder originally described in people of Portuguese descent, and associated with the expansion of a CAG tract in the coding region of the causative gene MJD1/ATX3. The CAG repeats range from 10 to 51 in the normal population and from 55 to 87 in SCA3/MJD patients. MJD1 encodes ataxin-3, a protein whose physiological function has been linked to ubiquitin-mediated proteolysis. Despite the identification of the causative mutation, the pathogenic process leading to the neurodegeneration observed in the disease is not yet completely understood. In the past years, several studies identified different molecular mechanisms and cellular pathways as being impaired or deregulated in MJD. Autophagy, proteolysis or post-translational modifications, among other processes, were implicated in MJD pathogenesis. From these studies it was possible to identify new targets for therapeutic intervention, which in some cases proved successful in models of disease. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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