Nachiket D. Pendse

Systematic empirical evaluation of individual base editing targets: validating therapeutic targets in USH2A and comparison of methods

The paper evaluates base editing efficiency for USH2A mutations using in vitro screening and a mouse model, showing high correction rates and comparing methods.

Exon 13-skipped USH2A protein retains functional integrity in mice, suggesting an exon skipping therapeutic approach to treat USH2A-associated disease.

This study shows that skipping exon 13 of the USH2A gene produces functional Usherin protein in mice, supporting exon-skipping as a therapeutic approach for USH2A-related diseases.

Ift172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects

This study creates a mouse model of IFT172-associated retinal degeneration and shows that IFT172 depletion causes rapid retinal degeneration and protein trafficking defects.