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Huntington Disease l: Introduction

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 30, 2026

CRISPR/Cas9-mediated Targeted Integration In Vivo Using a Homology-mediated End Joining-based Strategy

CRISPR/Cas9-mediated Targeted Integration In Vivo Using a Homology-mediated End Joining-based Strategy

Published on: March 12, 2018

Modest rescue of RBFOX1 splicing function attenuates Huntington's disease features

David Lozano-Muñoz^1,2, Ainara Elorza^1,2, Miriam Lucas-Santamaría^1,2

¹Center for Molecular Biology Severo Ochoa (CBM Severo Ochoa) CSIC/UAM, C/ Nicolás Cabrera, 1, Madrid, 28049, Spain.

Molecular Medicine (Cambridge, Mass.)

|April 3, 2026

Summary

No abstract available in PubMed .

Keywords:

A2BP1 Huntington´s disease RBFOX Splicing Transgenic mice

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Last Updated: Jun 30, 2026

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