Long somatic DNA-repeat expansion drives neurodegeneration in Huntington disease
Robert E. Handsaker, Seva Kashin, Nora M. Reed, Steven Tan, Won‐Seok Lee, Tara M. McDonald, Kiely Morris, Nolan Kamitaki, Christopher D. Mullally, Neda R. Morakabati, Melissa Goldman, Gabriel Lind, Rhea Kohli, Elisabeth S. Lawton, Marina Hogan, , Steven A. McCarroll
The paper shows that HTT CAG repeats expand in striatal neurons over time, leading to gene expression changes and neurodegeneration in Huntington disease.
bioRxiv · May 17, 2024 · PreprintGenetics