Chapter title |
Molecular Mechanisms and Cellular Pathways Implicated in Machado-Joseph Disease Pathogenesis
|
---|---|
Chapter number | 18 |
Book title |
Polyglutamine Disorders
|
Published in |
Advances in experimental medicine and biology, January 2018
|
DOI | 10.1007/978-3-319-71779-1_18 |
Pubmed ID | |
Book ISBNs |
978-3-31-971778-4, 978-3-31-971779-1
|
Authors |
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, Nóbrega, Clévio, Simões, Ana Teresa, Duarte-Neves, Joana, Duarte, Sónia, Vasconcelos-Ferreira, Ana, Cunha-Santos, Janete, Pereira, Dina, Santana, Magda, Cavadas, Cláudia, de Almeida, Luís Pereira |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 1 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 33% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 56 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 10 | 18% |
Student > Bachelor | 8 | 14% |
Student > Ph. D. Student | 6 | 11% |
Researcher | 4 | 7% |
Professor | 2 | 4% |
Other | 6 | 11% |
Unknown | 20 | 36% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 14 | 25% |
Medicine and Dentistry | 12 | 21% |
Neuroscience | 5 | 9% |
Agricultural and Biological Sciences | 2 | 4% |
Immunology and Microbiology | 2 | 4% |
Other | 1 | 2% |
Unknown | 20 | 36% |