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Related Experiment Video

Updated: Apr 10, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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Huntingtin: here, there, everywhere!

Cristovao Marques Sousa1, Sandrine Humbert1

  • 1Institut Curie, CNRS UMR 3306, INSERM U1005, Orsay, France.

Journal of Huntington'S Disease
|July 27, 2014
PubMed
Summary

Huntingtin protein, altered in Huntington disease, functions throughout the body, not just the brain. This review explores its peripheral roles and implications for non-neuronal conditions.

Area of Science:

  • Neurobiology
  • Genetics
  • Cellular Biology

Background:

  • Huntingtin protein is central to Huntington disease, a neurodegenerative disorder.
  • Huntingtin's ubiquitous expression suggests roles beyond the central nervous system.
  • The peripheral functions of huntingtin remain largely unexplored.

Purpose of the Study:

  • To review the peripheral distribution of huntingtin.
  • To highlight huntingtin's cellular functions with potential systemic importance.
  • To explore the implications of mutant huntingtin in non-neuronal pathologies.

Main Methods:

  • Literature review of studies on huntingtin distribution and function.
  • Analysis of research on Huntington disease and its systemic effects.
Keywords:
Huntingtinexpression patternhuntingtin functionperipheral tissues

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  • Synthesis of evidence regarding huntingtin's role in peripheral tissues.

    • Main Results:

    • Huntingtin is expressed in various peripheral tissues.
    • Huntingtin performs essential cellular functions outside the central nervous system.
    • Mutant huntingtin is associated with peripheral disturbances.

    Conclusions:

    • Huntingtin's peripheral roles are significant and warrant further investigation.
    • Dysfunction of huntingtin may contribute to non-neuronal pathologies.
    • Understanding peripheral huntingtin function is crucial for a comprehensive view of Huntington disease.