Alvaro Murillo

This study demonstrates that a single-AAV vector delivering the SpCas9 nickase and sgRNA achieves greater CAG/CTG repeat contraction in a Huntington's disease mouse model compared to a dual-vector system.

Delta plots from targeted long-read data separate repeat instability frequency, expansion bias and change size; a single-clone assay (SCIA) shows FAN1 knockout raises expansion frequency but shrinks expansions.

The paper uses MRI and histological analyses to show axonal and myelin changes in a Huntington's Disease mouse model, identifying FR as a potential MRI biomarker for WM microstructure changes.

The paper demonstrates that CRISPR-Cas9 nickase can contract CAG/CTG repeats in patient-derived cells and improve molecular and behavioral phenotypes in Huntington's disease.