Alison A. Bertuch

This study shows that RPS19 and RPL5 mutations in DBA impair DNA double-strand break repair, potentially explaining cancer risk in patients.

This study identifies impaired homologous recombination in SDS and DBA patient-derived cells, linking ribosomopathy genes to DNA repair defects and suggesting PARP inhibition as a potential therapeutic target.

This study shows that Ku proteins associate with human telomeres mainly through protein-protein interactions, not DNA binding.

This study shows that reduced Ku's DNA end binding activity shortens telomeres by destabilizing Est1-telomere interactions, not by affecting TLC1 levels.