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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

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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Related Experiment Video

Updated: Jun 18, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

alpha Pix enhances mutant huntingtin aggregation.

Makoto Eriguchi1, Haruo Mizuta, Shouqing Luo

  • 1Department of Internal Medicine, Saga University Faculty of Medicine, Saga 849-8501, Japan.

Journal of the Neurological Sciences
|December 9, 2009
PubMed
Summary
This summary is machine-generated.

Pak-interacting exchange factor (alpha Pix) binds to huntingtin (htt) and promotes its aggregation, a key factor in Huntington's disease. Reducing alpha Pix levels lessens htt aggregation, offering a potential therapeutic target for Huntington's disease.

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Related Experiment Videos

Last Updated: Jun 18, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy
11:22

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Published on: June 27, 2018

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

Area of Science:

  • Neuroscience
  • Molecular Biology
  • Cell Biology

Background:

  • Huntington's disease (HD) is a neurodegenerative disorder caused by polyglutamine-expanded mutant huntingtin (muhtt).
  • Mutant huntingtin protein is prone to aggregation, a hallmark of HD pathology.
  • Understanding proteins that influence htt aggregation is crucial for developing HD therapies.

Purpose of the Study:

  • To identify novel huntingtin (htt)-interacting proteins involved in htt aggregation.
  • To investigate the role of Pak-interacting exchange factor (alpha Pix) in Huntington's disease pathogenesis.

Main Methods:

  • Screening for actin-cytoskeleton organization factors interacting with htt.
  • Immunoprecipitation assays to confirm htt-alpha Pix interaction.
  • Colocalization studies and overexpression/knockdown experiments to assess alpha Pix's effect on muhtt aggregation.

Main Results:

  • Alpha Pix (Pak-interacting exchange factor) was identified as a novel htt-interacting protein.
  • Alpha Pix binds to both wild-type and mutant htt, and accumulates in muhtt aggregates.
  • Overexpression of alpha Pix enhances muhtt aggregation, while its knockdown attenuates it, indicating a role in muhtt aggregation.

Conclusions:

  • Alpha Pix plays a significant role in promoting mutant huntingtin aggregation.
  • The interaction domains within alpha Pix (DH and PH domains) are critical for htt binding.
  • Alpha Pix represents a potential therapeutic target for modulating mutant huntingtin aggregation in Huntington's disease.