Gabriel E. Matos-Rodrigues

The paper shows senataxin and DNA-PKcs redundantly support NHEJ repair of RAG-induced DSBs during V(D)J recombination, with senataxin's function overlapping with RECQL5 and HLTF.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

This study identifies ELOF1 as a critical factor for somatic hypermutation and class switch recombination by facilitating RNAPII pausing and AID targeting.

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

This study shows that pathogenic (A2G3)n repeats in CANVAS stall DNA replication by forming alternative DNA structures like triplexes, while nonpathogenic (A4G)n repeats do not.

The paper identifies dynamic DNA secondary structures in vivo that contribute to genome instability by analyzing ssDNA converted to DSBs using S1-END-seq.

This paper shows that overexpressing Klf4 in retinal progenitor cells can reprogram them to generate retinal ganglion cells in vivo, with iRGCs surviving for up to 30 days.