Title |
Trinucleotide Repeats: A Structural Perspective
|
---|---|
Published in |
Frontiers in Neurology, January 2013
|
DOI | 10.3389/fneur.2013.00076 |
Pubmed ID | |
Authors |
Bruno Almeida, Sara Fernandes, Isabel A. Abreu, Sandra Macedo-Ribeiro |
Abstract |
Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in several neurological disorders, being directly involved in the molecular mechanisms underlying pathogenesis through modulation of gene expression and/or the function of the RNA or protein it encodes. Structural and functional information on the role of TNR sequences in RNA and protein is crucial to understand the effect of TNR expansions in neurodegeneration. Therefore, this review intends to provide to the reader a structural and functional view of TNR and encoded homopeptide expansions, with a particular emphasis on polyQ expansions and its role at inducing the self-assembly, aggregation and functional alterations of the carrier protein, which culminates in neuronal toxicity and cell death. Detail will be given to the Machado-Joseph Disease-causative and polyQ-containing protein, ataxin-3, providing clues for the impact of polyQ expansion and its flanking regions in the modulation of ataxin-3 molecular interactions, function, and aggregation. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Switzerland | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | <1% |
Netherlands | 1 | <1% |
United Kingdom | 1 | <1% |
Canada | 1 | <1% |
United States | 1 | <1% |
Unknown | 96 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 25 | 25% |
Researcher | 17 | 17% |
Student > Bachelor | 13 | 13% |
Student > Master | 10 | 10% |
Student > Doctoral Student | 4 | 4% |
Other | 12 | 12% |
Unknown | 20 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 25 | 25% |
Agricultural and Biological Sciences | 25 | 25% |
Medicine and Dentistry | 11 | 11% |
Neuroscience | 4 | 4% |
Immunology and Microbiology | 3 | 3% |
Other | 9 | 9% |
Unknown | 24 | 24% |