- Ataxia-Telangiectasia Mutated is located in cardiac mitochondria and impacts oxidative phosphorylation.
- DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasiapatients.
- Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity.
- Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India