Cellular functions of the protein kinase ATM and their relevance to human disease
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 …
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …
[HTML][HTML] DNA damage—how and why we age?
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 …
stress, leading, thereby, to increased risk of morbidity and mortality. Many factors contribute …
Ageing as a risk factor for neurodegenerative disease
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 …
disease (AD) and Parkinson disease (PD). One in ten individuals aged≥ 65 years has AD …
[HTML][HTML] A framework for individualized splice-switching oligonucleotide therapy
Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …
individuals with genetic diseases, but the systematic identification of such individuals …
[HTML][HTML] Hallmarks of brain aging: adaptive and pathological modification by metabolic states
MP Mattson, TV Arumugam - Cell metabolism, 2018 - cell.com
During aging, the cellular milieu of the brain exhibits tell-tale signs of compromised
bioenergetics, impaired adaptive neuroplasticity and resilience, aberrant neuronal network …
bioenergetics, impaired adaptive neuroplasticity and resilience, aberrant neuronal network …
[HTML][HTML] Biomarkers of cellular senescence and skin aging
AS Wang, O Dreesen - Frontiers in genetics, 2018 - frontiersin.org
Cellular senescence is an irreversible growth arrest that occurs as a result of different
damaging stimuli, including DNA damage, telomere shortening and dysfunction or …
damaging stimuli, including DNA damage, telomere shortening and dysfunction or …
DNA damage checkpoint kinases in cancer
HL Smith, H Southgate, DA Tweddle… - Expert reviews in …, 2020 - cambridge.org
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 …
DNA damage being replicated and passed on to the next generation of cells via an …
Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers
MJ Hall, R Bernhisel, E Hughes, K Larson… - Cancer Prevention …, 2021 - AACR
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 …
risk remains uncertain. This study aimed to estimate ATM PV cancer risks independent of …
Ataxia‐telangiectasia: A review of clinical features and molecular pathology
Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency
(PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM) gene …
(PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM) gene …
[HTML][HTML] The natural history of ataxia-telangiectasia (AT): a systematic review
E Petley, A Yule, S Alexander, S Ojha… - PLoS One, 2022 - journals.plos.org
Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …