Huntingtin was the first disease gene mapped to a specific chromosome. How did scientists do it and what have we learned since then? HD is a rare, adult-onset, autosomal dominant, progressive ...

Huntingtin was the first disease gene mapped to a specific chromosome. How did scientists do it and what have we learned since then?

Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by a mutation in the gene called huntingtin on chromosome 4. HD is inherited in an autosomal dominant fashion, so that each ...

A longstanding enigma in the Huntington's disease is how the mutated protein derived from the huntingtin gene is present in every cell of the body, but the disease appears to selectively affect ...

protects and regulates the chromosomes inside the nucleus, allowing them to turn genes on and off as needed. Kapitein and ...

This excess leads to the production of a defective huntingtin ... 2025A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes.