Related Experiment Video

Updated: Jul 4, 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

Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats

Alicia Semaka, Simon Warby, Blair R Leavitt

    Movement Disorders : Official Journal of the Movement Disorder Society
    |June 13, 2008
    PubMed
    Abstract

    No abstract available in PubMed .

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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,...