[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 …

New role of ATM in controlling GABAergic tone during development

L Pizzamiglio, E Focchi, L Murru, M Tamborini… - Cerebral …, 2016 - academic.oup.com
The capacity to guarantee the proper excitatory/inhibitory balance is one of the most critical
steps during early development responsible for the correct brain organization, function, and …

[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 …

Neurons in vulnerable regions of the Alzheimer's disease brain display reduced ATM signaling

X Shen, J Chen, J Li, J Kofler, K Herrup - Eneuro, 2016 - eneuro.org
Ataxia telangiectasia (AT) is a multisystemic disease caused by mutations in the ATM (AT
mutated) gene. It strikes before 5 years of age and leads to dysfunctions in many tissues …

ATM protein is located on presynaptic vesicles and its deficit leads to failures in synaptic plasticity

G Vail, A Cheng, YR Han, T Zhao… - Journal of …, 2016 - journals.physiology.org
Ataxia telangiectasia is a multisystemic disorder that includes a devastating
neurodegeneration phenotype. The ATM (ataxia-telangiectasia mutated) protein is well …

Degeneration of neurons, synapses, and neuropil and glial activation in a murine Atm knockout model of ataxia–telangiectasia

RO Kuljis, Y Xu, MC Aguila… - Proceedings of the …, 1997 - National Acad Sciences
Neural degeneration is one of the clinical manifestations of ataxia–telangiectasia, a disorder
caused by mutations in the Atm protein kinase gene. However, neural degeneration was not …

[HTML][HTML] In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While …

M Reichlmeir, J Canet-Pons, G Koepf, W Nurieva… - Cells, 2023 - mdpi.com
The autosomal recessive disorder Ataxia-Telangiectasia is caused by a dysfunction of the
stress response protein, ATM. In the nucleus of proliferating cells, ATM senses DNA double …

[HTML][HTML] The DNA repair protein ATM as a target in autism spectrum disorder

L Pizzamiglio, E Focchi, C Cambria, L Ponzoni… - JCI insight, 2021 - ncbi.nlm.nih.gov
Impairment of the GABAergic system has been reported in epilepsy, autism, attention deficit
hyperactivity disorder, and schizophrenia. We recently demonstrated that ataxia …

[HTML][HTML] New views of the DNA repair protein ataxia–telangiectasia mutated in central neurons: Contribution in synaptic dysfunctions of neurodevelopmental and …

S Briguglio, C Cambria, E Albizzati, E Marcello… - Cells, 2023 - mdpi.com
Ataxia–Telangiectasia Mutated (ATM) is a serine/threonine protein kinase principally known
to orchestrate DNA repair processes upon DNA double-strand breaks (DSBs). Mutations in …

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 …