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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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Pharmacodynamic biomarkers responsive to mutant huntingtin lowering in a Huntington's disease mouse model

Deanna M Marchionini1, Stef De Lombaerde2, Joëlle van Rijswijk3

  • 1CHDI Management, Inc., The Company That Manages the Scientific Activities of CHDI Foundation, Inc., 350 7(th) Ave, Suite 200, New York, NY, 10001, USA.

Neurobiology of Disease
|April 9, 2025
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,...

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