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Trento","award":["26617"],"award-info":[{"award-number":["26617"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Ataxia\u2013Telangiectasia Mutated (ATM) is a serine\/threonine protein kinase principally known to orchestrate DNA repair processes upon DNA double-strand breaks (DSBs). Mutations in the Atm gene lead to Ataxia\u2013Telangiectasia (AT), a recessive disorder characterized by ataxic movements consequent to cerebellar atrophy or dysfunction, along with immune alterations, genomic instability, and predisposition to cancer. AT patients show variable phenotypes ranging from neurologic abnormalities and cognitive impairments to more recently described neuropsychiatric features pointing to symptoms hardly ascribable to the canonical functions of ATM in DNA damage response (DDR). Indeed, evidence suggests that cognitive abilities rely on the proper functioning of DSB machinery and specific synaptic changes in central neurons of ATM-deficient mice unveiled unexpected roles of ATM at the synapse. Thus, in the present review, upon a brief recall of DNA damage responses, we focus our attention on the role of ATM in neuronal physiology and pathology and we discuss recent findings showing structural and functional changes in hippocampal and cortical synapses of AT mouse models. Collectively, a deeper knowledge of ATM-dependent mechanisms in neurons is necessary not only for a better comprehension of AT neurological phenotypes, but also for a higher understanding of the pathological mechanisms in neurodevelopmental and degenerative disorders involving ATM dysfunctions.<\/jats:p>","DOI":"10.3390\/cells12172181","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T09:48:15Z","timestamp":1693388895000},"page":"2181","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["New Views of the DNA Repair Protein Ataxia\u2013Telangiectasia Mutated in Central Neurons: Contribution in Synaptic Dysfunctions of Neurodevelopmental and Neurodegenerative Diseases"],"prefix":"10.3390","volume":"12","author":[{"given":"Sabrina","family":"Briguglio","sequence":"first","affiliation":[{"name":"Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Via F.lli Cervi 93, 20129 Segrate (MI) and via Vanvitelli 32, 20129 Milan, MI, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8443-3334","authenticated-orcid":false,"given":"Clara","family":"Cambria","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Via F.lli Cervi 93, 20129 Segrate (MI) and via Vanvitelli 32, 20129 Milan, MI, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6087-0014","authenticated-orcid":false,"given":"Elena","family":"Albizzati","sequence":"additional","affiliation":[{"name":"Division of Developmental Biology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0452-762X","authenticated-orcid":false,"given":"Elena","family":"Marcello","sequence":"additional","affiliation":[{"name":"Department of Pharmacological and Biomolecular Sciences, University of Milan, Via Giuseppe Balzaretti 9, 20133 Milan, MI, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Provenzano","sequence":"additional","affiliation":[{"name":"Department of Cellular, Computational and Integrative Biology\u2014CIBIO, University of Trento, Via Sommarive 9, 38068 Trento, TN, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0963-9789","authenticated-orcid":false,"given":"Angelisa","family":"Frasca","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Via F.lli Cervi 93, 20129 Segrate (MI) and via Vanvitelli 32, 20129 Milan, MI, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0198-4529","authenticated-orcid":false,"given":"Flavia","family":"Antonucci","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Via F.lli Cervi 93, 20129 Segrate (MI) and via Vanvitelli 32, 20129 Milan, MI, Italy"},{"name":"Institute of Neuroscience, IN-CNR, Via Raoul Follereau 3, 20854 Vedano al Lambro, MB, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1038\/85798","article-title":"DNA Double-Strand Breaks: Signaling, Repair and the Cancer Connection","volume":"27","author":"Khanna","year":"2001","journal-title":"Nat. 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