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, Jia Feng, Oguz K. Ozgoren, Sofia Bergh, Jocelyn Bégin, Jessica Dawson, Hailey Findlay Black, Chris Kay, Tanushri Soomarooah, Larissa Arning, Indhu‐Shree Rajan‐Babu, A. Nazlı Başak, Jiří Klempíř, , Mahmoud A. Pouladi
This study shows that HTT CAA/CCA-loss variants increase toxicity in Huntington disease models independently of somatic repeat instability.
bioRxiv · Sep 8, 2026 · PreprintGenetics