Cellular functions of the protein kinase ATM and their relevance to human disease

JH Lee, TT Paull - Nature Reviews Molecular Cell Biology, 2021 - nature.com
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 …

[HTML][HTML] Ataxia telangiectasia: a review

C Rothblum-Oviatt, J Wright, MA Lefton-Greif… - Orphanet journal of rare …, 2016 - Springer
Definition of the disease Ataxia telangiectasia (AT) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency …

[HTML][HTML] Condensate biology of synaptic vesicle clusters

R Sansevrino, C Hoffmann, D Milovanovic - Trends in Neurosciences, 2023 - cell.com
Neuronal communication crucially relies on exocytosis of neurotransmitters from synaptic
vesicles (SVs) which are clustered at synapses. To ensure reliable neurotransmitter release …

ATM loss disrupts the autophagy-lysosomal pathway

A Cheng, KH Tse, HM Chow, Y Gan, X Song, F Ma… - Autophagy, 2021 - Taylor & Francis
ABSTRACT ATM (ataxia telangiectasia mutated) protein is found associated with multiple
organelles including synaptic vesicles, endosomes and lysosomes, often in cooperation with …

Neurodegeneration in ataxia‐telangiectasia: Multiple roles of ATM kinase in cellular homeostasis

KR Choy, DJ Watters - Developmental Dynamics, 2018 - Wiley Online Library
Ataxia‐telangiectasia (A‐T) is characterized by neuronal degeneration, cancer, diabetes,
immune deficiency, and increased sensitivity to ionizing radiation. A‐T is attributed to the …

The cerebellar degeneration in ataxia-telangiectasia: A case for genome instability

Y Shiloh - DNA repair, 2020 - Elsevier
Research on the molecular pathology of genome instability disorders has advanced our
understanding of the complex mechanisms that safeguard genome stability and cellular …

[HTML][HTML] ATM rules neurodevelopment and glutamatergic transmission in the hippocampus but not in the cortex

E Focchi, C Cambria, L Pizzamiglio, L Murru… - Cell Death & …, 2022 - nature.com
Interest in the function of ataxia-telangiectasia-mutated protein (ATM) is extensively growing
as evidenced by preclinical studies that continuously link ATM with new intracellular …

ATM and ATR play complementary roles in the behavior of excitatory and inhibitory vesicle populations

A Cheng, T Zhao, KH Tse, HM Chow… - Proceedings of the …, 2018 - National Acad Sciences
ATM (ataxia-telangiectasia mutated) and ATR (ATM and Rad3-related) are large PI3 kinases
whose human mutations result in complex syndromes that include a compromised DNA …

[HTML][HTML] ATM protein kinase: old and new implications in neuronal pathways and brain circuitry

L Pizzamiglio, E Focchi, F Antonucci - Cells, 2020 - mdpi.com
Despite that the human autosomal recessive disease ataxia telangiectasia (AT) is a rare
pathology, interest in the function of ataxia-telangiectasia mutated protein (ATM) is …

[HTML][HTML] Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality

Y Mitiagin, A Barzilai - Neural Regeneration Research, 2023 - journals.lww.com
Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for
maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions …