Definitions
from Wiktionary, Creative Commons Attribution/Share-Alike License.
- noun biochemistry Any of several
proteins , found in several organs of the body, that have an association withataxia
Etymologies
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Examples
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The less the amount of ataxin 2, the less was the toxicity.
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"Because reducing ataxin 2 levels in yeast and flies was able to prevent some of the toxic effects of TDP-43, we think that this might be a novel therapeutic target for ALS," Gitler said.
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ALS-associated disease protein, together with the strong genetic association of ataxin 2 intermediate-length polyQ expansions and ALS, should aid in the development of biomarkers and empower the development of new therapies for this disease.
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The study showed that ataxin 2 and TDP-43 interact in animal and cellular models to promote pathogenesis.
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Among the genes that modified toxicity was the yeast counterpart of ataxin 2.
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The identification of pathological interactions between ataxin 2 and TDP-43, another
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Using yeast and fruit flies as simple, yet rapid and powerful models, then following up with human DNA screening, the team found evidence that mutations in the ataxin 2 gene were a genetic contributor to the disease.
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Bonini and her team had previously worked with ataxin 2 in studies showing that it could cause neurodegeneration in flies.
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More specifically, the study shows that expansions of a run of the amino acid glutamine in ataxin 2 are associated with an increased risk for ALS, with a frequency of 4.7 percent of ALS cases examined.
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Results of the study were confirmed in fruit fly models, in biochemical analyses and in human cells, revealing that ataxin 2 is a potent modifier of TDP-43.
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