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Huntingtin

Huntingtin

(Science: molecular biology) protein product of the IT15 gene that has variable numbers of polyglutamine repeats in Huntingdon's disease. The IT15 gene is widely expressed and required for nomal development. The polyglutamine repeats (44 in the commonest form of the disease) increase the interaction of huntingtin with huntingtin associated protein 1 (HAP 1) which is enriched in the brain and may be associated with pathology. Nature, 378: 398


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Re: Huntingtin-Gene no results on lymphocytes

Nobody got a clue on this....I´m not really sure about my answer. Does someone know something about lymphocytes why they might be analyzed in case of Chorea Huntington or other genetic disorders? Even a glimpse of ideas would be helpful. Thank you.

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by dodobirdie
Fri Sep 28, 2012 9:49 pm
 
Forum: Human Biology
Topic: Huntingtin-Gene no results on lymphocytes
Replies: 1
Views: 1331

Huntingtin-Gene no results on lymphocytes

... question I´m not so sure about what it really means but I tried to solve it. Maybe some expert in Human Genetics can help me out. Question: The Huntingtin-Gene is exprimed ubiquitary. An mutation in the gene leads to neural-degeneration but shows no further harmt to lymphocytes. Explain, why ...

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by dodobirdie
Thu Sep 27, 2012 2:12 pm
 
Forum: Human Biology
Topic: Huntingtin-Gene no results on lymphocytes
Replies: 1
Views: 1331

The Fiber Disease

... disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded repeat of 39 or more glutamines in exon 1 of the huntingtin gene (Htt). Intracellularly, exon 1 is cleaved and the polyQ tracts of many copies of Htt aggregate in the nucleus and neurites. Studies ...

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by London
Fri Dec 01, 2006 8:32 pm
 
Forum: Human Biology
Topic: The Fiber Disease
Replies: 7403
Views: 5423384


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