Title |
Gene, Stem Cell, and Alternative Therapies for SCA 1
|
---|---|
Published in |
Frontiers in Molecular Neuroscience, August 2016
|
DOI | 10.3389/fnmol.2016.00067 |
Pubmed ID | |
Authors |
Jacob L. Wagner, Deirdre M. O'Connor, Anthony Donsante, Nicholas M. Boulis |
Abstract |
Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear inclusions to form. Most notably, neuronal dysfunction presents in Purkinje cells. However, the effect of mutant Ataxin-1 is not entirely understood. Two mouse models are employed to represent spinocerebellar ataxia 1, a B05 transgenic model that specifically expresses mutant Ataxin-1 in Purkinje cells, and a Sca1 154Q/2Q model that inserts the polyglutamine expansion into the mouse Ataxin-1 locus so that the mutant Ataxin-1 is expressed in all cells that express Ataxin-1. This review aims to summarize and evaluate the wide variety of therapies proposed for spinocerebellar ataxia 1, specifically gene and stem cell therapies. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Switzerland | 2 | 50% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 75% |
Science communicators (journalists, bloggers, editors) | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 48 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 10 | 21% |
Student > Bachelor | 7 | 15% |
Student > Master | 7 | 15% |
Researcher | 4 | 8% |
Other | 2 | 4% |
Other | 4 | 8% |
Unknown | 14 | 29% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 11 | 23% |
Agricultural and Biological Sciences | 7 | 15% |
Neuroscience | 6 | 13% |
Medicine and Dentistry | 5 | 10% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Other | 3 | 6% |
Unknown | 15 | 31% |