GeneticsbioRxivPreprint
Synonymous HTT CAA/CCA-loss variants associated with early Huntington disease onset enhance toxicity beyond somatic instability
Glen Lester Sequiera, Sophia C. Gjervan, Ryan T. McCallum…·Mahmoud A. Pouladi
This study shows that HTT CAA/CCA-loss variants increase toxicity in Huntington disease models independently of somatic repeat instability.
DOI 10.64898/2026.09.03.749261