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Huda Y. Zoghbi

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 Importantly, such insights can now guide studies that focus on the normal function and interactions of these proteins and how they might be enhanced by disease-causing mutations. These studies could give better understanding of how the proteins cause disease.

 The overall picture we have now is that glutamine expansion causes some aspects of the pathology of SCA1 in part by enhancing the activity of the domain that is outside the glutamine repeat.

 We had been accumulating clues that the glutamine tract expansion is clearly what is important for disease because that's the mutation. But we also concluded that there was something else beyond the glutamine that's really mediating the toxicity of the protein.

 We had known that the expansion of the glutamine tract within Ataxin-1 probably interfered with normal clearance of Ataxin-1, meaning that it accumulated in cells.



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This website focuses on proverbs in the Swedish, Danish and Norwegian languages, and some parts including the links below have not been translated to English. They are mainly FAQs, various information and webpages for improving the collection.



Här har vi samlat ordstäv och talesätt i 34 år!

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På banken tar de dina pengar. Och din tid. Här tar vi bara din tid.

www.livet.se/proverb




This website focuses on proverbs in the Swedish, Danish and Norwegian languages, and some parts including the links below have not been translated to English. They are mainly FAQs, various information and webpages for improving the collection.



Här har vi samlat ordstäv och talesätt i 34 år!

Vad är proverb?
Hur funkar det?
Vanliga frågor
Om samlingen
Ordspråkshjältar
Hjälp till!




På banken tar de dina pengar. Och din tid. Här tar vi bara din tid.

www.livet.se/proverb