Emma Cismas

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 DNA binding preferences of BRCA1 domains, showing DBD1 binds dsDNA and DBD2/BRCT bind ssDNA and G4, linking them to HR and telomere regulation.

This paper investigates how 8-oxoguanine modifications affect G-quadruplex DNA stability and FANCJ AKKQ binding through experimental assays.

This study examines how specific BRCA1 DNA binding domain variants affect DNA binding affinities and DNA damage response in human cells.