Related Experiment Video

Updated: May 29, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Lessons from predictive testing for Huntington disease: 25 years on

Alice K Hawkins1, Anita Ho, Michael R Hayden

  • 1Centre for Molecular Medicine and Therapeutics, 950 West 28th Ave, University of British Columbia, Child and Family Research Institute, Vancouver V5Z 4H4, BC, Canada. alicehaw@exchange.ubc.ca

Journal of Medical Genetics
|September 21, 2011
PubMed
Summary

No abstract available in PubMed .

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...