Brennon L. O’Callaghan

This paper develops a CRISPR knock-in mouse model of SCA5 L253P mutation, showing impaired motor activity and altered beta-III-spectrin localization in cerebellar Purkinje neurons.

This study identifies mutant ATAXIN-1's role in respiratory dysfunction in SCA1 mice by analyzing neural and skeletal muscle lineages.

This study compares striatal pathology in SCA1 and HD mice, finding shared and distinct molecular and functional deficits in Medium Spiny Neurons.

This study identifies brain regions and cell types contributing to SCA1 disease using conditional knockout mice, showing that targeting multiple areas and muscle is necessary for effective therapy.

This study shows disrupting ATXN1 nuclear localization in a SCA1 mouse model reduces disease-like phenotypes and alters region-specific transcriptomic profiles.