The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …

Aging is a complex process that results in loss of the ability to reattain homeostasis following
stress, leading, thereby, to increased risk of morbidity and mortality. Many factors contribute …

Ageing is the primary risk factor for most neurodegenerative diseases, including Alzheimer
disease (AD) and Parkinson disease (PD). One in ten individuals aged≥ 65 years has AD …

Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …

During aging, the cellular milieu of the brain exhibits tell-tale signs of compromised
bioenergetics, impaired adaptive neuroplasticity and resilience, aberrant neuronal network …

Cellular senescence is an irreversible growth arrest that occurs as a result of different
damaging stimuli, including DNA damage, telomere shortening and dysfunction or …

DNA damage response (DDR) pathway prevents high level endogenous and environmental
DNA damage being replicated and passed on to the next generation of cells via an …

Pathogenic variants (PVs) in ATM are relatively common, but the scope and magnitude of
risk remains uncertain. This study aimed to estimate ATM PV cancer risks independent of …

Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency
(PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM) gene …

Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …