{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:22:57Z","timestamp":1777357377696,"version":"3.51.4"},"reference-count":61,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T00:00:00Z","timestamp":1682726400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T00:00:00Z","timestamp":1682726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebellar neurodegeneration\nis a classical feature of ataxia telangiectasia (A-T), an autosomal recessive condition caused by loss-of-function mutation of the <jats:italic>ATM<\/jats:italic> gene, a gene with multiple regulatory functions. The increased vulnerability of cerebellar neurones to degeneration compared to cerebral neuronal populations in individuals with ataxia telangiectasia implies a specific importance of intact <jats:italic>ATM<\/jats:italic> function in the cerebellum. We hypothesised that there would be elevated transcription of <jats:italic>ATM<\/jats:italic> in the cerebellar cortex relative to <jats:italic>ATM<\/jats:italic> expression in other grey matter regions during neurodevelopment in individuals without A-T. Using <jats:italic>ATM<\/jats:italic> transcription data from the BrainSpan Atlas of the Developing Human Brain, we demonstrate a rapid increase in cerebellar <jats:italic>ATM<\/jats:italic> expression relative to expression in other brain regions during gestation and remaining elevated during early childhood, a period corresponding to the emergence of cerebellar neurodegeneration in ataxia telangiectasia patients. We then used gene ontology analysis to identify the biological processes represented in the genes correlated with cerebellar <jats:italic>ATM<\/jats:italic> expression. This analysis demonstrated that multiple processes are associated with expression of <jats:italic>ATM<\/jats:italic> in the cerebellum, including cellular respiration, mitochondrial function, histone methylation, and cell-cycle regulation, alongside its canonical role in DNA double-strand break repair. Thus, the enhanced expression of <jats:italic>ATM<\/jats:italic> in the cerebellum during early development may be related to the specific energetic demands of the cerebellum and its role as a regulator of these processes.<\/jats:p>","DOI":"10.1007\/s12311-023-01560-2","type":"journal-article","created":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T17:01:51Z","timestamp":1682787711000},"page":"502-511","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment"],"prefix":"10.1007","volume":"23","author":[{"given":"Simon","family":"Deacon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Dalleywater","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Peat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon M. L.","family":"Paine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rob A.","family":"Dineen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,4,29]]},"reference":[{"issue":"1","key":"1560_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-016-0543-7","volume":"11","author":"C Rothblum-Oviatt","year":"2016","unstructured":"Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11(1):1\u201321.","journal-title":"Orphanet J Rare Dis"},{"issue":"41","key":"1560_CR2","doi-asserted-by":"publisher","first-page":"39527","DOI":"10.1074\/jbc.M304423200","volume":"278","author":"K Chen","year":"2003","unstructured":"Chen K, Albano A, Ho A, Keaney JF. Activation of p53 by oxidative stress involves platelet-derived growth factor-\u03b2 receptor-mediated ataxia telangiectasia mutated (ATM) kinase activation. J Biol Chem. 2003;278(41):39527\u201333.","journal-title":"J Biol Chem"},{"issue":"1","key":"1560_CR3","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.tibs.2011.10.002","volume":"37","author":"S Ditch","year":"2012","unstructured":"Ditch S, Paull TT. The ATM protein kinase and cellular redox signaling: beyond the DNA damage response. Trends Biochem Sci. 2012;37(1):15\u201322.","journal-title":"Trends Biochem Sci"},{"issue":"10","key":"1560_CR4","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1038\/nrm2514","volume":"9","author":"MF Lavin","year":"2008","unstructured":"Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol. 2008;9(10):759\u201369.","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"4","key":"1560_CR5","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1038\/nrm3546","volume":"14","author":"Y Shiloh","year":"2013","unstructured":"Shiloh Y, Ziv Y. The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol. 2013;14(4):197\u2013210.","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"2","key":"1560_CR6","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/nrm3047","volume":"12","author":"TH Stracker","year":"2011","unstructured":"Stracker TH, Petrini JHJ. The MRE11 complex: starting from the ends. Nat Rev Mol Cell Biol. 2011;12(2):90\u2013103.","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"24","key":"1560_CR7","doi-asserted-by":"publisher","first-page":"4805","DOI":"10.4161\/cc.9.24.14323","volume":"9","author":"Z Guo","year":"2010","unstructured":"Guo Z, Deshpande R, Paull TT. ATM activation in the presence of oxidative stress. Cell Cycle. 2010;9(24):4805\u201311.","journal-title":"Cell Cycle"},{"issue":"7","key":"1560_CR8","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1111\/dmcn.13052","volume":"58","author":"TJ Jackson","year":"2016","unstructured":"Jackson TJ, Chow G, Suri M, Byrd P, Taylor MR, Whitehouse WP. Longitudinal analysis of the neurological features of ataxia-telangiectasia. Dev Med Child Neurol. 2016;58(7):690\u20137.","journal-title":"Dev Med Child Neurol"},{"key":"1560_CR9","doi-asserted-by":"crossref","unstructured":"Clark HB. Degenerative ataxic disorders. In Greenfield\u2019s Neuropathology-Two Volume Set (pp. 823\u2013840). CRC Press. 2018.","DOI":"10.1201\/9781315382715-18"},{"issue":"5","key":"1560_CR10","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1007\/s00234-003-0945-9","volume":"45","author":"F Tavani","year":"2003","unstructured":"Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003;45(5):315\u20139.","journal-title":"Neuroradiology"},{"key":"1560_CR11","doi-asserted-by":"publisher","first-page":"102110","DOI":"10.1016\/j.nicl.2019.102110","volume":"25","author":"RA Dineen","year":"2020","unstructured":"Dineen RA, Raschke F, McGlashan HL, Pszczolkowski S, Hack L, Cooper AD, Prasad M, Chow G, Whitehouse WP, Auer DP. Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia. NeuroImage: Clin. 2020;25:102110.","journal-title":"NeuroImage: Clin"},{"issue":"2","key":"1560_CR12","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1002\/ana.25394","volume":"85","author":"K Schon","year":"2019","unstructured":"Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N. Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. Ann Neurol. 2019;85(2):170\u201380.","journal-title":"Ann Neurol"},{"issue":"8","key":"1560_CR13","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1016\/j.dnarep.2013.04.014","volume":"12","author":"MF Lavin","year":"2013","unstructured":"Lavin MF. The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration. DNA Repair. 2013;12(8):612\u20139. https:\/\/doi.org\/10.1016\/j.dnarep.2013.04.014.","journal-title":"DNA Repair"},{"issue":"7","key":"1560_CR14","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1016\/j.dnarep.2008.03.006","volume":"7","author":"S Biton","year":"2008","unstructured":"Biton S, Barzilai A, Shiloh Y. The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle. DNA Repair. 2008;7(7):1028\u201338.","journal-title":"DNA Repair"},{"key":"1560_CR15","doi-asserted-by":"crossref","unstructured":"Don Kwak Y, Shaw TI, Downing SM, Tewari A, Jin H, Li Y, Dumitrache LC, Katyal S, Khodakhah K, Russell HR, McKinnon PJ. Chromatin architecture at susceptible gene loci in cerebellar Purkinje cells characterizes DNA damage-induced neurodegeneration.\u00a0Sci Adv. 2021;7(51):eabg6363.","DOI":"10.1126\/sciadv.abg6363"},{"key":"1560_CR16","doi-asserted-by":"crossref","unstructured":"Perez H, Abdallah MF, Chavira JI, Norris AS, Egeland MT, Vo KL, Buechsenschuetz CL, Sanghez V, Kim JL, Pind M, Nakamura K, Hicks GG, Gatti RA, Madrenas J, Iacovino M, McKinnon PJ, Mathews PJ. A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation.\u00a0Elife. 2021;10:e64695.","DOI":"10.7554\/eLife.64695"},{"key":"1560_CR17","doi-asserted-by":"publisher","DOI":"10.1101\/2021.09.09.459619","author":"J Lai","year":"2021","unstructured":"Lai J, Kim J, Jeffries AM, Tolles A, Chittenden TW, Buckley PG, Yu TW, Lodato MA, Lee A. Single-nucleus transcriptomic analyses reveal microglial activation underlying cerebellar degeneration in Ataxia Telangiectasia. BioRxiv. 2021. https:\/\/doi.org\/10.1101\/2021.09.09.459619.","journal-title":"BioRxiv"},{"key":"1560_CR18","doi-asserted-by":"crossref","unstructured":"Blignaut M, Harries S, Lochner A, Huisamen B. Ataxia telangiectasia mutated protein kinase: a potential master puppeteer of oxidative stress-induced metabolic recycling. Oxidative Med Cellul Longev. 2021;2021.","DOI":"10.1155\/2021\/8850708"},{"issue":"1","key":"1560_CR19","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1002\/dvdy.24522","volume":"247","author":"KR Choy","year":"2018","unstructured":"Choy KR, Watters DJ. Neurodegeneration in ataxia-telangiectasia: multiple roles of ATM kinase in cellular homeostasis. Dev Dyn. 2018;247(1):33\u201346.","journal-title":"Dev Dyn"},{"issue":"9","key":"1560_CR20","doi-asserted-by":"publisher","first-page":"1969","DOI":"10.3390\/cells9091969","volume":"9","author":"L Pizzamiglio","year":"2020","unstructured":"Pizzamiglio L, Focchi E, Antonucci F. ATM protein kinase: old and new implications in neuronal pathways and brain circuitry. Cells. 2020;9(9):1969.","journal-title":"Cells"},{"key":"1560_CR21","doi-asserted-by":"publisher","first-page":"102950","DOI":"10.1016\/j.dnarep.2020.102950","volume":"95","author":"Y Shiloh","year":"2020","unstructured":"Shiloh Y. The cerebellar degeneration in ataxia-telangiectasia: a case for genome instability. DNA Repair. 2020;95:102950.","journal-title":"DNA Repair"},{"key":"1560_CR22","doi-asserted-by":"crossref","unstructured":"Brown KD, Ziv Y, Sadanandan SN, Chessa L, Collins FS, Shiloh Y, Tagle DA. The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. Proc Natl Acad Sci U S A. 1997;94(5):1840\u20135.","DOI":"10.1073\/pnas.94.5.1840"},{"key":"1560_CR23","doi-asserted-by":"crossref","unstructured":"Gately DP, Hittle JC, Chan GKT, Yen TJ. Characterization of ATM expression, localization, and associated DNA-dependent protein kinase activity. Mol Biol Cell. 1998;9(9):2361\u201374.","DOI":"10.1091\/mbc.9.9.2361"},{"issue":"2","key":"1560_CR24","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1111\/j.1471-4159.2006.04254.x","volume":"100","author":"JK Boehrs","year":"2007","unstructured":"Boehrs JK, He J, Halaby M, Yang D. Constitutive expression and cytoplasmic compartmentalization of ATM protein in differentiated human neuron-like SH-SY5Y cells. J Neurochem. 2007;100(2):337\u201345.","journal-title":"J Neurochem"},{"key":"1560_CR25","doi-asserted-by":"crossref","unstructured":"Oka A, Takashima S. Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development.\u00a0Neurosci Lett. 1998;252(3):195\u20138.","DOI":"10.1016\/S0304-3940(98)00576-X"},{"issue":"6","key":"1560_CR26","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1258\/ebm.2012.011378","volume":"237","author":"HS Khalil","year":"2012","unstructured":"Khalil HS, Tummala H, Hupp TR, Zhelev N. Pharmacological inhibition of ATM by KU55933 stimulates ATM transcription. Exp Biol Med. 2012;237(6):622\u201334. https:\/\/doi.org\/10.1258\/ebm.2012.011378.","journal-title":"Exp Biol Med"},{"issue":"1","key":"1560_CR27","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/gcc.20267","volume":"45","author":"N Gueven","year":"2006","unstructured":"Gueven N, Fukao T, Luff J, Paterson C, Kay G, Kondo N, Lavin MF. Regulation of the Atm promoter in vivo. Genes Chromosom Cancer. 2006;45(1):61\u201371. https:\/\/doi.org\/10.1002\/gcc.20267.","journal-title":"Genes Chromosom Cancer"},{"issue":"7495","key":"1560_CR28","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/nature13185","volume":"508","author":"JA Miller","year":"2014","unstructured":"Miller JA, Ding S-L, Sunkin SM, Smith KA, Ng L, Szafer A, Ebbert A, Riley ZL, Royall JJ, Aiona K. Transcriptional landscape of the prenatal human brain. Nature. 2014;508(7495):199\u2013206.","journal-title":"Nature"},{"issue":"8","key":"1560_CR29","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1093\/bioinformatics\/btp101","volume":"25","author":"G Bindea","year":"2009","unstructured":"Bindea G, Mlecnik B, Hackl H, Charoentong P, Tosolini M, Kirilovsky A, Fridman WH, Pag\u00e8s F, Trajanoski Z, Galon J. ClueGO: A Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks. Bioinformatics. 2009;25(8):1091\u20133. https:\/\/doi.org\/10.1093\/bioinformatics\/btp101.","journal-title":"Bioinformatics"},{"issue":"1","key":"1560_CR30","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/S0736-5748(00)00065-4","volume":"19","author":"H \u00c1brah\u00e1m","year":"2001","unstructured":"\u00c1brah\u00e1m H, Torn\u00f3czky T, Kosztol\u00e1nyi G, Seress L. Cell formation in the cortical layers of the developing human cerebellum. Int J Dev Neurosci. 2001;19(1):53\u201362. https:\/\/doi.org\/10.1016\/S0736-5748(00)00065-4.","journal-title":"Int J Dev Neurosci"},{"issue":"20","key":"1560_CR31","first-page":"4036","volume":"121","author":"M Ambrose","year":"2013","unstructured":"Ambrose M, Gatti RA. Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood J Am Soc Hematol. 2013;121(20):4036\u201345.","journal-title":"Blood J Am Soc Hematol"},{"key":"1560_CR32","doi-asserted-by":"crossref","unstructured":"Lee J-H, Mand MR, Kao C-H, Zhou Y, Ryu SW, Richards AL, Coon JJ, Paull TT. ATM directs DNA damage responses and proteostasis via genetically separable pathways. Sci Signal. 2018;11(512):eaan5598.","DOI":"10.1126\/scisignal.aan5598"},{"key":"1560_CR33","doi-asserted-by":"publisher","first-page":"2322","DOI":"10.3389\/fimmu.2019.02322","volume":"10","author":"M Maciejczyk","year":"2019","unstructured":"Maciejczyk M, Heropolitanska-Pliszka E, Pietrucha B, Sawicka-Powierza J, Bernatowska E, Wolska-Kusnierz B, Pac M, Car H, Zalewska A, Mikoluc B. Antioxidant defense, redox homeostasis, and oxidative damage in children with ataxia telangiectasia and nijmegen breakage syndrome. Front Immunol. 2019;10:2322.","journal-title":"Front Immunol"},{"key":"1560_CR34","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1016\/j.redox.2016.12.030","volume":"11","author":"M Maciejczyk","year":"2017","unstructured":"Maciejczyk M, Mikoluc B, Pietrucha B, Heropolitanska-Pliszka E, Pac M, Motkowski R, Car H. Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. Redox Biol. 2017;11:375\u201383.","journal-title":"Redox Biol"},{"issue":"7","key":"1560_CR35","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1038\/jcbfm.2012.35","volume":"32","author":"C Howarth","year":"2012","unstructured":"Howarth C, Gleeson P, Attwell D. Updated energy budgets for neural computation in the neocortex and cerebellum. J Cereb Blood Flow Metab. 2012;32(7):1222\u201332.","journal-title":"J Cereb Blood Flow Metab"},{"issue":"3","key":"1560_CR36","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1083\/jcb.201806197","volume":"218","author":"H-M Chow","year":"2019","unstructured":"Chow H-M, Cheng A, Song X, Swerdel MR, Hart RP, Herrup K. ATM is activated by ATP depletion and modulates mitochondrial function through NRF1. J Cell Biol. 2019;218(3):909\u201328.","journal-title":"J Cell Biol"},{"issue":"18","key":"1560_CR37","doi-asserted-by":"publisher","first-page":"3709","DOI":"10.4161\/cc.9.18.13253","volume":"9","author":"A Alexander","year":"2010","unstructured":"Alexander A, Walker CL. Differential localization of ATM is correlated with activation of distinct downstream signaling pathways. Cell Cycle. 2010;9(18):3709\u201310.","journal-title":"Cell Cycle"},{"key":"1560_CR38","doi-asserted-by":"crossref","unstructured":"Alexander A, Cai S-L, Kim J, Nanez A, Sahin M, MacLean KH, Inoki K, Guan K-L, Shen J, Person MD. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 and autophagy in response to ROS.\u00a0Proc\u00a0Natl Acad Sci USA. 2010;107(9):4153\u20138.","DOI":"10.1073\/pnas.0913860107"},{"key":"1560_CR39","doi-asserted-by":"publisher","first-page":"101511","DOI":"10.1016\/j.redox.2020.101511","volume":"32","author":"J-H Lee","year":"2020","unstructured":"Lee J-H, Paull TT. Mitochondria at the crossroads of ATM-mediated stress signaling and regulation of reactive oxygen species. Redox Biol. 2020;32:101511.","journal-title":"Redox Biol"},{"issue":"1","key":"1560_CR40","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/s40035-019-0156-x","volume":"8","author":"L Berm\u00fadez-Guzm\u00e1n","year":"2019","unstructured":"Berm\u00fadez-Guzm\u00e1n L, Leal A. DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria. Trans Neurodegener. 2019;8(1):14.","journal-title":"Trans Neurodegener"},{"issue":"4","key":"1560_CR41","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.cmet.2016.09.004","volume":"24","author":"EF Fang","year":"2016","unstructured":"Fang EF, Kassahun H, Croteau DL, Scheibye-Knudsen M, Marosi K, Lu H, Shamanna RA, Kalyanasundaram S, Bollineni RC, Wilson MA. NAD+ replenishment improves lifespan and healthspan in ataxia telangiectasia models via mitophagy and DNA repair. Cell Metab. 2016;24(4):566\u201381.","journal-title":"Cell Metab"},{"issue":"4","key":"1560_CR42","doi-asserted-by":"publisher","first-page":"e13329","DOI":"10.1111\/acel.13329","volume":"20","author":"B Yang","year":"2021","unstructured":"Yang B, Dan X, Hou Y, Lee J, Wechter N, Krishnamurthy S, Kimura R, Babbar M, Demarest T, McDevitt R. NAD+ supplementation prevents STING-induced senescence in ataxia telangiectasia by improving mitophagy. Aging Cell. 2021;20(4):e13329.","journal-title":"Aging Cell"},{"issue":"18","key":"1560_CR43","doi-asserted-by":"publisher","first-page":"2154","DOI":"10.1093\/hmg\/ddm166","volume":"16","author":"M Ambrose","year":"2007","unstructured":"Ambrose M, Goldstine JV, Gatti RA. Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells. Hum Mol Genet. 2007;16(18):2154\u201364.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"1560_CR44","doi-asserted-by":"publisher","first-page":"101972","DOI":"10.1016\/j.isci.2020.101972","volume":"24","author":"AJ Yeo","year":"2021","unstructured":"Yeo AJ, Chong KL, Gatei M, Zou D, Stewart R, Withey S, Wolvetang E, Parton RG, Brown AD, Kastan MB. Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia. Iscience. 2021;24(1):101972.","journal-title":"Iscience"},{"issue":"9","key":"1560_CR45","doi-asserted-by":"publisher","first-page":"2723","DOI":"10.1172\/JCI31604","volume":"117","author":"JS Eaton","year":"2007","unstructured":"Eaton JS, Lin ZP, Sartorelli AC, Bonawitz ND, Shadel GS. Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis. J Clin Investig. 2007;117(9):2723\u201334.","journal-title":"J Clin Investig"},{"issue":"5","key":"1560_CR46","doi-asserted-by":"publisher","first-page":"840","DOI":"10.4161\/auto.19693","volume":"8","author":"YA Valentin-Vega","year":"2012","unstructured":"Valentin-Vega YA, Kastan MB. A new role for ATM: regulating mitochondrial function and mitophagy. Autophagy. 2012;8(5):840\u20131.","journal-title":"Autophagy"},{"issue":"1","key":"1560_CR47","doi-asserted-by":"publisher","first-page":"e50500","DOI":"10.15252\/embr.202050500","volume":"22","author":"C Cirotti","year":"2021","unstructured":"Cirotti C, Rizza S, Giglio P, Poerio N, Allega MF, Claps G, Pecorari C, Lee J, Benassi B, Baril\u00e0 D. Redox activation of ATM enhances GSNOR translation to sustain mitophagy and tolerance to oxidative stress. EMBO Rep. 2021;22(1):e50500.","journal-title":"EMBO Rep"},{"issue":"8","key":"1560_CR48","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1016\/j.dnarep.2013.04.012","volume":"12","author":"K Herrup","year":"2013","unstructured":"Herrup K, Li J, Chen J. The role of ATM and DNA damage in neurons: upstream and downstream connections. DNA Repair. 2013;12(8):600\u20134.","journal-title":"DNA Repair"},{"issue":"5","key":"1560_CR49","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1038\/nm.2709","volume":"18","author":"J Li","year":"2012","unstructured":"Li J, Chen J, Ricupero CL, Hart RP, Schwartz MS, Kusnecov A, Herrup K. Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia. Nat Med. 2012;18(5):783\u201390.","journal-title":"Nat Med"},{"issue":"12","key":"1560_CR50","doi-asserted-by":"publisher","first-page":"1745","DOI":"10.1038\/nn.3564","volume":"16","author":"J Li","year":"2013","unstructured":"Li J, Hart RP, Mallimo EM, Swerdel MR, Kusnecov AW, Herrup K. EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia. Nat Neurosci. 2013;16(12):1745\u201353.","journal-title":"Nat Neurosci"},{"key":"1560_CR51","doi-asserted-by":"publisher","first-page":"1582","DOI":"10.3389\/fcell.2020.599048","volume":"8","author":"V Stagni","year":"2021","unstructured":"Stagni V, Ferri A, Cirotti C, Baril\u00e0 D. ATM kinase-dependent regulation of autophagy: a key player in senescence? Front Cell Dev Biol. 2021;8:1582.","journal-title":"Front Cell Dev Biol"},{"issue":"10","key":"1560_CR52","doi-asserted-by":"publisher","first-page":"2522","DOI":"10.1523\/JNEUROSCI.4946-04.2005","volume":"25","author":"Y Yang","year":"2005","unstructured":"Yang Y, Herrup K. Loss of neuronal cell cycle control in ataxia-telangiectasia: a unified disease mechanism. J Neurosci. 2005;25(10):2522\u20139.","journal-title":"J Neurosci"},{"issue":"20","key":"1560_CR53","doi-asserted-by":"publisher","first-page":"7568","DOI":"10.1523\/JNEUROSCI.0778-11.2011","volume":"31","author":"J Li","year":"2011","unstructured":"Li J, Chen J, Vinters HV, Gatti RA, Herrup K. Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia. J Neurosci. 2011;31(20):7568\u201377.","journal-title":"J Neurosci"},{"issue":"6","key":"1560_CR54","doi-asserted-by":"publisher","first-page":"4688","DOI":"10.18632\/aging.102863","volume":"12","author":"J Zhao","year":"2020","unstructured":"Zhao J, Zhang L, Lu A, Han Y, Colangelo D, Bukata C, Scibetta A, Yousefzadeh MJ, Li X, Gurkar AU. ATM is a key driver of NF-\u03baB-dependent DNA-damage-induced senescence, stem cell dysfunction and aging. Aging (Albany NY). 2020;12(6):4688.","journal-title":"Aging (Albany NY)"},{"issue":"5","key":"1560_CR55","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.molcel.2015.07.011","volume":"59","author":"H Chen","year":"2015","unstructured":"Chen H, Ruiz PD, McKimpson WM, Novikov L, Kitsis RN, Gamble MJ. MacroH2A1 and ATM play opposing roles in paracrine senescence and the senescence-associated secretory phenotype. Mol Cell. 2015;59(5):719\u201331.","journal-title":"Mol Cell"},{"key":"1560_CR56","doi-asserted-by":"crossref","unstructured":"Kang C, Xu Q, Martin TD, Li MZ, Demaria M, Aron L, Lu T, Yankner BA, Campisi J, Elledge SJ. The DNA damage response induces inflammation and senescence by inhibiting autophagy of GATA4. Science. 2015; 349(6255).","DOI":"10.1126\/science.aaa5612"},{"key":"1560_CR57","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.arr.2016.05.002","volume":"33","author":"Y Shiloh","year":"2017","unstructured":"Shiloh Y, Lederman HM. Ataxia-telangiectasia (AT): an emerging dimension of premature ageing. Ageing Res Rev. 2017;33:76\u201388.","journal-title":"Ageing Res Rev"},{"issue":"23","key":"1560_CR58","doi-asserted-by":"publisher","first-page":"7041","DOI":"10.7150\/jca.64061","volume":"12","author":"X Zhang","year":"2021","unstructured":"Zhang X, Liu P, Zheng X, Wang J, Peng Q, Li Z, Wei L, Liu C, Wu Y, Wen Y, Yan Q, Ma J. N6-methyladenosine regulates atm expression and downstream signaling. HortScience. 2021;12(23):7041\u201351. https:\/\/doi.org\/10.7150\/jca.64061.","journal-title":"HortScience"},{"issue":"5","key":"1560_CR59","doi-asserted-by":"publisher","first-page":"2700","DOI":"10.1093\/nar\/gkac104","volume":"50","author":"J Bourseguin","year":"2022","unstructured":"Bourseguin J, Cheng W, Talbot E, Hardy L, Lai J, Jeffries AM, Lodato MA, Lee EA, Khoronenkova SV. Persistent DNA damage associated with ATM kinase deficiency promotes microglial dysfunction. Nucleic Acids Res. 2022;50(5):2700\u201318. https:\/\/doi.org\/10.1093\/nar\/gkac104.","journal-title":"Nucleic Acids Res"},{"key":"1560_CR60","doi-asserted-by":"crossref","unstructured":"Petersen AJ, Rimkus SA, Wassarman DA. ATM kinase inhibition in glial cells activates the innate immune response and causes neurodegeneration in Drosophila.\u00a0Proc Natl Acad Sci USA.\u00a02012;109(11):E656\u201364.","DOI":"10.1073\/pnas.1110470109"},{"issue":"32","key":"1560_CR61","doi-asserted-by":"publisher","first-page":"6378","DOI":"10.1523\/JNEUROSCI.0774-19.2019","volume":"39","author":"X Song","year":"2021","unstructured":"Song X, Ma F, Herrup K. Accumulation of cytoplasmic DNA due to ATM deficiency activates the microglial viral response system with neurotoxic consequences. J Neurosci. 2021;39(32):6378\u201394. https:\/\/doi.org\/10.1523\/JNEUROSCI.0774-19.2019.","journal-title":"J Neurosci"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-023-01560-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-023-01560-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-023-01560-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T09:18:10Z","timestamp":1710839890000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-023-01560-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,29]]},"references-count":61,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,4]]}},"alternative-id":["1560"],"URL":"https:\/\/doi.org\/10.1007\/s12311-023-01560-2","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,29]]},"assertion":[{"value":"20 April 2023","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 April 2023","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The data used in this analysis was publicly available in BrainSpan Atlas of the Developing Human Brain, which provides de-identified transcriptomic data from post-mortem samples. No additional ethical approval was required for use of this open-access dataset.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}