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 …
Hallmarks of brain aging: adaptive and pathological modification by metabolic states
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 …
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 …
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 …
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 …
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
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 …
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 …