{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T08:45:58Z","timestamp":1771490758787,"version":"3.50.1"},"reference-count":230,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:00:00Z","timestamp":1696291200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Deutsche Forschungsgemeinschaft","award":["AU 96\/19-1"],"award-info":[{"award-number":["AU 96\/19-1"]}]},{"name":"Deutsche Forschungsgemeinschaft","award":["IV 21\/17-1"],"award-info":[{"award-number":["IV 21\/17-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>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-strand breaks and coordinates their repair. This role explains T-cell dysfunction and tumour risk. However, it remains unclear whether this function is relevant for postmitotic neurons and underlies cerebellar atrophy, since ATM is cytoplasmic in postmitotic neurons. Here, we used ATM-null mice that survived early immune deficits via bone-marrow transplantation, and that reached initial neurodegeneration stages at 12 months of age. Global cerebellar transcriptomics demonstrated that ATM depletion triggered upregulations in most neurotransmission and neuropeptide systems. Downregulated transcripts were found for the ATM interactome component Usp2, many non-coding RNAs, ataxia genes Itpr1, Grid2, immediate early genes and immunity factors. Allelic splice changes affected prominently the neuropeptide machinery, e.g., Oprm1. Validation experiments with stressors were performed in human neuroblastoma cells, where ATM was localised only to cytoplasm, similar to the brain. Effect confirmation in SH-SY5Y cells occurred after ATM depletion and osmotic stress better than nutrient\/oxidative stress, but not after ATM kinase inhibition or DNA stressor bleomycin. Overall, we provide pioneer observations from a faithful A-T mouse model, which suggest general changes in synaptic and dense-core vesicle stress adaptation.<\/jats:p>","DOI":"10.3390\/cells12192399","type":"journal-article","created":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T07:28:29Z","timestamp":1696318109000},"page":"2399","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While Downregulations Affect Prominently Itpr1, Usp2 and Non-Coding RNA"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1551-6865","authenticated-orcid":false,"given":"Marina","family":"Reichlmeir","sequence":"first","affiliation":[{"name":"Goethe University Frankfurt, University Hospital, Clinic of Neurology, Exp. Neurology, Heinrich Hoffmann Str. 7, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00falia","family":"Canet-Pons","sequence":"additional","affiliation":[{"name":"Goethe University Frankfurt, University Hospital, Clinic of Neurology, Exp. Neurology, Heinrich Hoffmann Str. 7, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Koepf","sequence":"additional","affiliation":[{"name":"Goethe University Frankfurt, University Hospital, Clinic of Neurology, Exp. Neurology, Heinrich Hoffmann Str. 7, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0783-9031","authenticated-orcid":false,"given":"Wasifa","family":"Nurieva","sequence":"additional","affiliation":[{"name":"Transposition and Genome Engineering, Research Centre of the Division of Hematology, Gene and Cell Therapy, Paul Ehrlich Institute, 63225 Langen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1292-648X","authenticated-orcid":false,"given":"Ruth Pia","family":"Duecker","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Pulmonology, Allergology, Infectious Diseases and Gastroenterology, Children\u2019s Hospital, University Hospital, Goethe-University, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Doering","sequence":"additional","affiliation":[{"name":"Dr. Senckenberg Institute of Pathology, University Hospital Frankfurt, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Abell","sequence":"additional","affiliation":[{"name":"Cell Signaling Technology, Inc., Danvers, MA 01923, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Key","sequence":"additional","affiliation":[{"name":"Goethe University Frankfurt, University Hospital, Clinic of Neurology, Exp. Neurology, Heinrich Hoffmann Str. 7, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew P.","family":"Stokes","sequence":"additional","affiliation":[{"name":"Cell Signaling Technology, Inc., Danvers, MA 01923, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Zielen","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Pulmonology, Allergology, Infectious Diseases and Gastroenterology, Children\u2019s Hospital, University Hospital, Goethe-University, 60590 Frankfurt am Main, Germany"},{"name":"Respiratory Research Institute, Medaimun GmbH, 60596 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7124-0904","authenticated-orcid":false,"given":"Ralf","family":"Schubert","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Pulmonology, Allergology, Infectious Diseases and Gastroenterology, Children\u2019s Hospital, University Hospital, Goethe-University, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7803-6658","authenticated-orcid":false,"given":"Zolt\u00e1n","family":"Ivics","sequence":"additional","affiliation":[{"name":"Transposition and Genome Engineering, Research Centre of the Division of Hematology, Gene and Cell Therapy, Paul Ehrlich Institute, 63225 Langen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg","family":"Auburger","sequence":"additional","affiliation":[{"name":"Goethe University Frankfurt, University Hospital, Clinic of Neurology, Exp. Neurology, Heinrich Hoffmann Str. 7, 60590 Frankfurt am Main, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/B978-0-444-62702-5.00014-7","article-title":"Ataxia telangiectasia","volume":"132","author":"Nissenkorn","year":"2015","journal-title":"Handb. Clin. Neurol."},{"key":"ref_2","unstructured":"Adam, M.P., and Pagon, R.A. (1993). GeneReviews((R)), University of Washington."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/s41572-019-0113-0","article-title":"Chromosome instability syndromes","volume":"5","author":"Taylor","year":"2019","journal-title":"Nat. Rev. Dis. 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