Article

Pathogenic human huntingtin expression causes prolific intramuscular aggregation, leading to nuclear, metabolic, and physiological dysregulation in striated muscle

2026-04-22

Abstract excerpt

Huntington’s disease is caused by expansion of a CAG repeat in the human HTT gene, producing a mutant huntingtin protein that misfolds and forms intracellular aggregates. Although Huntington’s disease is primarily characterized as a neurodegenerative disorder, mutant huntingtin is ubiquitously expressed, and peripheral tissues such as skeletal muscle exhibit pathological abnormalities. To define the muscle-intrins...

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Literature Corpus work: 693e45e9-7659-51d3-88ed-c4fa5cb3090f
DOI: 10.64898/2026.04.20.719674

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