{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T12:40:10Z","timestamp":1740832810113,"version":"3.38.0"},"reference-count":66,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Commun Biol"],"DOI":"10.1038\/s42003-025-07797-3","type":"journal-article","created":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T11:00:26Z","timestamp":1740826826000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exome sequencing identifies novel genes associated with cerebellar volume and microstructure"],"prefix":"10.1038","volume":"8","author":[{"given":"Yuanyuan","family":"Liang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongrui","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengjie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiyun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenwei","family":"Hao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuemeng","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyan","family":"Hao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyan","family":"Zuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuangjie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanmei","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shasha","family":"Qi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9831-1090","authenticated-orcid":false,"given":"Yunpeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shilei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2689-9897","authenticated-orcid":false,"given":"Yu-Ming","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4461-3568","authenticated-orcid":false,"given":"Ole A.","family":"Andreassen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4843-0072","authenticated-orcid":false,"given":"Changhe","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,3,1]]},"reference":[{"key":"7797_CR1","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s12311-013-0511-x","volume":"13","author":"L. F Koziol","year":"2014","unstructured":"Koziol, L. F. et al. Consensus paper: the cerebellum\u2019s role in movement and cognition. Cerebellum 13, 151\u2013177 (2014).","journal-title":"Cerebellum"},{"key":"7797_CR2","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1007\/s12311-011-0321-y","volume":"11","author":"L. F Koziol","year":"2012","unstructured":"Koziol, L. F., Budding, D. E. & Chidekel, D. From movement to thought: executive function, embodied cognition, and the cerebellum. Cerebellum 11, 505\u2013525 (2012).","journal-title":"Cerebellum"},{"key":"7797_CR3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1007\/978-3-030-99550-8_3","volume":"1378","author":"O Baumann","year":"2022","unstructured":"Baumann, O. & Mattingley, J. B. Cerebellum and Emotion Processing. Adv. Exp. Med. Biol. 1378, 25\u201339 (2022).","journal-title":"Adv. Exp. Med. Biol."},{"key":"7797_CR4","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1146\/annurev-neuro-070918-050258","volume":"42","author":"J. D Schmahmann","year":"2019","unstructured":"Schmahmann, J. D., Guell, X., Stoodley, C. J. & Halko, M. A. The Theory and Neuroscience of Cerebellar Cognition. Annu Rev. Neurosci. 42, 337\u2013364 (2019).","journal-title":"Annu Rev. Neurosci."},{"key":"7797_CR5","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1038\/s41586-020-2853-0","volume":"586","author":"C. V Van Hout","year":"2020","unstructured":"Van Hout, C. V. et al. Exome sequencing and characterization of 49,960 individuals in the UK Biobank. Nature 586, 749\u2013756 (2020).","journal-title":"Nature"},{"key":"7797_CR6","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1038\/s41586-022-05684-z","volume":"614","author":"D. J Weiner","year":"2023","unstructured":"Weiner, D. J. et al. Polygenic architecture of rare coding variation across 394,783 exomes. Nature 614, 492\u2013499 (2023).","journal-title":"Nature"},{"key":"7797_CR7","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1016\/j.ajhg.2014.03.003","volume":"94","author":"X Zhang","year":"2014","unstructured":"Zhang, X. et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am. J. Hum. Genet. 94, 547\u2013558 (2014).","journal-title":"Am. J. Hum. Genet."},{"key":"7797_CR8","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/jhg.2014.103","volume":"60","author":"H Kodera","year":"2015","unstructured":"Kodera, H. et al. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J. Hum. Genet. 60, 97\u2013101 (2015).","journal-title":"J. Hum. Genet."},{"key":"7797_CR9","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-019-1429-9","volume":"19","author":"C Wei","year":"2019","unstructured":"Wei, C. et al. Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia. BMC Neurol. 19, 203 (2019).","journal-title":"BMC Neurol."},{"key":"7797_CR10","doi-asserted-by":"publisher","DOI":"10.3389\/fbioe.2022.901452","volume":"10","author":"Y Tian","year":"2022","unstructured":"Tian, Y. et al. Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease. Front. Bioeng. Biotechnol. 10, 901452 (2022).","journal-title":"Front. Bioeng. Biotechnol."},{"key":"7797_CR11","doi-asserted-by":"publisher","DOI":"10.1186\/s12929-021-00766-y","volume":"28","author":"C.-P Chang","year":"2021","unstructured":"Chang, C.-P., Wu, K.-C., Lin, C.-Y. & Chern, Y. Emerging roles of dysregulated adenosine homeostasis in brain disorders with a specific focus on neurodegenerative diseases. J. Biomed. Sci. 28, 70 (2021).","journal-title":"J. Biomed. Sci."},{"key":"7797_CR12","doi-asserted-by":"publisher","first-page":"216","DOI":"10.3389\/fnmol.2018.00216","volume":"11","author":"M. E Watts","year":"2018","unstructured":"Watts, M. E., Pocock, R. & Claudianos, C. Brain energy and oxygen metabolism: emerging role in normal function and disease. Front. Mol. Neurosci. 11, 216 (2018).","journal-title":"Front. Mol. Neurosci."},{"key":"7797_CR13","doi-asserted-by":"publisher","first-page":"286","DOI":"10.3389\/fcell.2020.00286","volume":"8","author":"S Varma Shrivastav","year":"2020","unstructured":"Varma Shrivastav, S., Bhardwaj, A., Pathak, K. A. & Shrivastav, A. Insulin-Like Growth Factor Binding Protein-3 (IGFBP-3): Unraveling the Role in Mediating IGF-Independent Effects Within the Cell. Front. Cell Dev. Biol. 8, 286 (2020).","journal-title":"Front. Cell Dev. Biol."},{"key":"7797_CR14","doi-asserted-by":"publisher","unstructured":"d\u2019Errico, P. & Meyer-Luehmann, M. Mechanisms of Pathogenic Tau and A\u03b2 Protein Spreading in Alzheimer\u2019s Disease. Front. Aging Neurosci. 12, https:\/\/doi.org\/10.3389\/fnagi.2020.00265 (2020).","DOI":"10.3389\/fnagi.2020.00265"},{"key":"7797_CR15","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1093\/brain\/awx194","volume":"141","author":"H. I. L Jacobs","year":"2017","unstructured":"Jacobs, H. I. L. et al. The cerebellum in Alzheimer\u2019s disease: evaluating its role in cognitive decline. Brain 141, 37\u201347 (2017).","journal-title":"Brain"},{"key":"7797_CR16","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s10787-020-00712-8","volume":"28","author":"M. O Welcome","year":"2020","unstructured":"Welcome, M. O. Cellular mechanisms and molecular signaling pathways in stress-induced anxiety, depression, and blood\u2013brain barrier inflammation and leakage. Inflammopharmacology 28, 643\u2013665 (2020).","journal-title":"Inflammopharmacology"},{"key":"7797_CR17","doi-asserted-by":"publisher","unstructured":"Jiang, S., Postovit, L., Cattaneo, A., Binder, E. B. & Aitchison, K. J. Epigenetic Modifications in Stress Response Genes Associated With Childhood Trauma. Front. Psychiatry 10, https:\/\/doi.org\/10.3389\/fpsyt.2019.00808 (2019).","DOI":"10.3389\/fpsyt.2019.00808"},{"key":"7797_CR18","doi-asserted-by":"publisher","first-page":"e1007830","DOI":"10.1371\/journal.pgen.1007830","volume":"15","author":"M Fletcher","year":"2019","unstructured":"Fletcher, M., Tillman, E. J., Butty, V. L., Levine, S. S. & Kim, D. H. Global transcriptional regulation of innate immunity by ATF-7 in C. elegans. PLoS Genet 15, e1007830 (2019).","journal-title":"PLoS Genet"},{"key":"7797_CR19","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1007\/s12192-021-01231-3","volume":"26","author":"E Razani","year":"2021","unstructured":"Razani, E. et al. The PI3K\/Akt signaling axis in Alzheimer\u2019s disease: a valuable target to stimulate or suppress? Cell Stress Chaperones 26, 871\u2013887 (2021).","journal-title":"Cell Stress Chaperones"},{"key":"7797_CR20","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1007\/s12035-021-02611-7","volume":"59","author":"M Kumar","year":"2022","unstructured":"Kumar, M. & Bansal, N. Implications of Phosphoinositide 3-Kinase-Akt (PI3K-Akt) Pathway in the Pathogenesis of Alzheimer\u2019s Disease. Mol. Neurobiol. 59, 354\u2013385 (2022).","journal-title":"Mol. Neurobiol."},{"key":"7797_CR21","doi-asserted-by":"publisher","DOI":"10.1186\/s41983-023-00751-2","volume":"59","author":"J Limantoro","year":"2023","unstructured":"Limantoro, J., de Liyis, B. G. & Sutedja, J. C. Akt signaling pathway: a potential therapy for Alzheimer\u2019s disease through glycogen synthase kinase 3 beta inhibition. Egypt. J. Neurol. Psychiatry Neurosurg. 59, 147 (2023).","journal-title":"Egypt. J. Neurol. Psychiatry Neurosurg."},{"key":"7797_CR22","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1111\/cge.12407","volume":"87","author":"M Shinawi","year":"2015","unstructured":"Shinawi, M., Coorg, R., Shimony, J. S., Grange, D. K. & Al-Kateb, H. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin. Genet 87, 478\u2013482 (2015).","journal-title":"Clin. Genet"},{"key":"7797_CR23","doi-asserted-by":"publisher","first-page":"2595","DOI":"10.1007\/s11064-023-03934-8","volume":"48","author":"M Chen","year":"2023","unstructured":"Chen, M. et al. The Role of PGC-1\u03b1-Mediated Mitochondrial Biogenesis in Neurons. Neurochem. Res. 48, 2595\u20132606 (2023).","journal-title":"Neurochem. Res."},{"key":"7797_CR24","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1326-6-32","volume":"6","author":"E Taherzadeh-Fard","year":"2011","unstructured":"Taherzadeh-Fard, E. et al. PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease. Mol. Neurodegeneration 6, 32 (2011).","journal-title":"Mol. Neurodegeneration"},{"key":"7797_CR25","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1002\/ajmg.a.62991","volume":"191","author":"E Leon","year":"2023","unstructured":"Leon, E., Nde, C., Ray, R. S., Preciado, D. & Zohn, I. E. ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway. Am. J. Med Genet A 191, 90\u201399 (2023).","journal-title":"Am. J. Med Genet A"},{"key":"7797_CR26","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.neures.2023.04.007","volume":"194","author":"M Kataoka","year":"2023","unstructured":"Kataoka, M. et al. Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy. Neurosci. Res. 194, 58\u201365 (2023).","journal-title":"Neurosci. Res."},{"key":"7797_CR27","doi-asserted-by":"publisher","first-page":"1491","DOI":"10.1016\/j.pnpbp.2009.08.008","volume":"33","author":"C Wan","year":"2009","unstructured":"Wan, C. et al. Positive association between ALDH1A2 and schizophrenia in the Chinese population. Prog. Neuropsychopharmacol. Biol. Psychiatry 33, 1491\u20131495 (2009).","journal-title":"Prog. Neuropsychopharmacol. Biol. Psychiatry"},{"key":"7797_CR28","doi-asserted-by":"publisher","first-page":"2251","DOI":"10.1242\/jcs.199521","volume":"130","author":"S Ram\u00edrez-Peinado","year":"2017","unstructured":"Ram\u00edrez-Peinado, S. et al. TRAPPC13 modulates autophagy and the response to Golgi stress. J. Cell Sci. 130, 2251\u20132265 (2017).","journal-title":"J. Cell Sci."},{"key":"7797_CR29","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-019-1006-z","volume":"19","author":"L Krajcovicova","year":"2019","unstructured":"Krajcovicova, L., Klobusiakova, P. & Rektorova, I. Gray Matter Changes in Parkinson\u2019s and Alzheimer\u2019s Disease and Relation to Cognition. Curr. Neurol. Neurosci. Rep. 19, 85 (2019).","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"7797_CR30","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2023.119928","volume":"269","author":"B. S Wu","year":"2023","unstructured":"Wu, B. S. et al. Genome-wide association study of cerebellar white matter microstructure and genetic overlap with common brain disorders. Neuroimage 269, 119928 (2023).","journal-title":"Neuroimage"},{"key":"7797_CR31","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1016\/B978-0-444-51892-7.00027-9","volume":"103","author":"H Paulson","year":"2012","unstructured":"Paulson, H. Machado-Joseph disease\/spinocerebellar ataxia type 3. Handb. Clin. Neurol. 103, 437\u2013449 (2012).","journal-title":"Handb. Clin. Neurol."},{"key":"7797_CR32","doi-asserted-by":"publisher","unstructured":"Dulski, J. et al. Spinocerebellar ataxia type 3 (Machado-Joseph disease). Pol. Arch. Intern. Med. 132, https:\/\/doi.org\/10.20452\/pamw.16322 (2022).","DOI":"10.20452\/pamw.16322"},{"key":"7797_CR33","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1007\/s13311-012-0117-x","volume":"9","author":"V. F Colomer Gould","year":"2012","unstructured":"Colomer Gould, V. F. Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). Neurotherapeutics 9, 285\u2013296 (2012).","journal-title":"Neurotherapeutics"},{"key":"7797_CR34","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.seizure.2018.04.016","volume":"59","author":"A Orsini","year":"2018","unstructured":"Orsini, A. et al. Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7. Seizure 59, 38\u201340 (2018).","journal-title":"Seizure"},{"key":"7797_CR35","doi-asserted-by":"publisher","unstructured":"Zhang, H. et al. PREX1 improves homeostatic proliferation to maintain a naive CD4+ T cell compartment in older age. JCI Insight 9, https:\/\/doi.org\/10.1172\/jci.insight.172848 (2024).","DOI":"10.1172\/jci.insight.172848"},{"key":"7797_CR36","doi-asserted-by":"publisher","DOI":"10.1186\/1756-6606-5-14","volume":"5","author":"E. R Kandel","year":"2012","unstructured":"Kandel, E. R. The molecular biology of memory: cAMP, PKA, CRE, CREB-1, CREB-2, and CPEB. Mol. Brain 5, 14 (2012).","journal-title":"Mol. Brain"},{"key":"7797_CR37","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2023.194909","volume":"1866","author":"D. T Pramio","year":"2023","unstructured":"Pramio, D. T. et al. DNA methylation of the promoter region at the CREB1 binding site is a mechanism for the epigenetic regulation of brain-specific PKM\u03b6. Biochim. Biophys. Acta Gene Regul. Mech. 1866, 194909 (2023).","journal-title":"Biochim. Biophys. Acta Gene Regul. Mech."},{"key":"7797_CR38","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2023.1215255","volume":"17","author":"M Zhang","year":"2023","unstructured":"Zhang, M. & Wang, H. Ca(2+)-stimulated ADCY1 and ADCY8 regulate distinct aspects of synaptic and cognitive flexibility. Front. Cell Neurosci. 17, 1215255 (2023).","journal-title":"Front. Cell Neurosci."},{"key":"7797_CR39","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-023-04066-x","volume":"21","author":"E Di Zazzo","year":"2023","unstructured":"Di Zazzo, E. et al. Exploring the putative role of PRDM1 and PRDM2 transcripts as mediators of T lymphocyte activation. J. Transl. Med. 21, 217 (2023).","journal-title":"J. Transl. Med."},{"key":"7797_CR40","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.ajhg.2017.12.002","volume":"102","author":"L Gueneau","year":"2018","unstructured":"Gueneau, L. et al. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. Am. J. Hum. Genet 102, 116\u2013132 (2018).","journal-title":"Am. J. Hum. Genet"},{"key":"7797_CR41","doi-asserted-by":"publisher","unstructured":"Lederbogen, R. C. et al. Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation. Genes 15, https:\/\/doi.org\/10.3390\/genes15060809 (2024).","DOI":"10.3390\/genes15060809"},{"key":"7797_CR42","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/nrn3689","volume":"15","author":"C Hetz","year":"2014","unstructured":"Hetz, C. & Mollereau, B. Disturbance of endoplasmic reticulum proteostasis in neurodegenerative diseases. Nat. Rev. Neurosci. 15, 233\u2013249 (2014).","journal-title":"Nat. Rev. Neurosci."},{"key":"7797_CR43","first-page":"346","volume":"3","author":"J Xu","year":"2023","unstructured":"Xu, J. et al. Human striatal glia differentially contribute to AD- and PD-specific neurodegeneration. Nat. Aging 3, 346\u2013365 (2023).","journal-title":"Nat. Aging"},{"key":"7797_CR44","doi-asserted-by":"publisher","first-page":"2267","DOI":"10.1242\/dev.070110","volume":"139","author":"T Hohenauer","year":"2012","unstructured":"Hohenauer, T. & Moore, A. W. The Prdm family: expanding roles in stem cells and development. Development 139, 2267\u20132282 (2012).","journal-title":"Development"},{"key":"7797_CR45","doi-asserted-by":"publisher","first-page":"3936","DOI":"10.1128\/MCB.00498-13","volume":"33","author":"D Bogani","year":"2013","unstructured":"Bogani, D. et al. The PR\/SET domain zinc finger protein Prdm4 regulates gene expression in embryonic stem cells but plays a nonessential role in the developing mouse embryo. Mol. Cell Biol. 33, 3936\u20133950 (2013).","journal-title":"Mol. Cell Biol."},{"key":"7797_CR46","doi-asserted-by":"publisher","DOI":"10.1186\/s12929-023-00925-3","volume":"30","author":"Y.-C Lin","year":"2023","unstructured":"Lin, Y.-C., Sahoo, B. K., Gau, S.-S. & Yang, R.-B. The biology of SCUBE. J. Biomed. Sci. 30, 33 (2023).","journal-title":"J. Biomed. Sci."},{"key":"7797_CR47","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1038\/s41580-023-00591-1","volume":"24","author":"Y Zhang","year":"2023","unstructured":"Zhang, Y. & Beachy, P. A. Cellular and molecular mechanisms of Hedgehog signalling. Nat. Rev. Mol. Cell Biol. 24, 668\u2013687 (2023).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"7797_CR48","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1002\/cpt.1982","volume":"108","author":"A. M Ho","year":"2020","unstructured":"Ho, A. M. et al. Mood-Stabilizing Antiepileptic Treatment Response in Bipolar Disorder: A Genome-Wide Association Study. Clin. Pharm. Ther. 108, 1233\u20131242 (2020).","journal-title":"Clin. Pharm. Ther."},{"key":"7797_CR49","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1136\/jmg-2023-109438","volume":"61","author":"D Lacombe","year":"2024","unstructured":"Lacombe, D. et al. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. J. Med Genet 61, 503\u2013519 (2024).","journal-title":"J. Med Genet"},{"key":"7797_CR50","doi-asserted-by":"publisher","unstructured":"Sima, A. et al. Menke-Hennekam Syndrome: A Literature Review and a New Case Report. Children 9, https:\/\/doi.org\/10.3390\/children9050759 (2022).","DOI":"10.3390\/children9050759"},{"key":"7797_CR51","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0548-2","volume":"19","author":"M L\u00f3pez","year":"2018","unstructured":"L\u00f3pez, M. et al. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. BMC Med. Genet. 19, 36 (2018).","journal-title":"BMC Med. Genet."},{"key":"7797_CR52","doi-asserted-by":"publisher","unstructured":"Van Gils, J., Magdinier, F., Fergelot, P. & Lacombe, D. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes 12, https:\/\/doi.org\/10.3390\/genes12070968 (2021).","DOI":"10.3390\/genes12070968"},{"key":"7797_CR53","doi-asserted-by":"publisher","first-page":"4353","DOI":"10.1038\/s41380-023-02186-w","volume":"28","author":"K. L Feuer","year":"2023","unstructured":"Feuer, K. L., Peng, X., Yovo, C. K. & Avramopoulos, D. DPYSL2\/CRMP2 isoform B knockout in human iPSC-derived glutamatergic neurons confirms its role in mTOR signaling and neurodevelopmental disorders. Mol. Psychiatry 28, 4353\u20134362 (2023).","journal-title":"Mol. Psychiatry"},{"key":"7797_CR54","doi-asserted-by":"publisher","unstructured":"Pachis, S. T. & Kops, G. Leader of the SAC: molecular mechanisms of Mps1\/TTK regulation in mitosis. Open Biol. 8, https:\/\/doi.org\/10.1098\/rsob.180109 (2018).","DOI":"10.1098\/rsob.180109"},{"key":"7797_CR55","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1146\/annurev-pathmechdis-051122-110756","volume":"19","author":"M Thomsen","year":"2024","unstructured":"Thomsen, M., Lange, L. M., Zech, M. & Lohmann, K. Genetics and Pathogenesis of Dystonia. Annu Rev. Pathol. 19, 99\u2013131 (2024).","journal-title":"Annu Rev. Pathol."},{"key":"7797_CR56","doi-asserted-by":"publisher","unstructured":"Burnett, S. B. et al. A frameshift mutation in the murine Prkra gene causes dystonia and exhibits abnormal cerebellar development and reduced eIF2\u03b1 phosphorylation. bioRxiv, https:\/\/doi.org\/10.1101\/2024.06.04.597421 (2024).","DOI":"10.1101\/2024.06.04.597421"},{"key":"7797_CR57","doi-asserted-by":"publisher","first-page":"18962","DOI":"10.1073\/pnas.1121288109","volume":"109","author":"M. M Harraz","year":"2012","unstructured":"Harraz, M. M., Eacker, S. M., Wang, X., Dawson, T. M. & Dawson, V. L. MicroRNA-223 is neuroprotective by targeting glutamate receptors. Proc. Natl. Acad. Sci. USA 109, 18962\u201318967 (2012).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"7797_CR58","doi-asserted-by":"publisher","first-page":"75","DOI":"10.3233\/JAD-2010-091603","volume":"21","author":"P. T Nelson","year":"2010","unstructured":"Nelson, P. T. & Wang, W. X. MiR-107 is reduced in Alzheimer\u2019s disease brain neocortex: validation study. J. Alzheimers Dis. 21, 75\u201379 (2010).","journal-title":"J. Alzheimers Dis."},{"key":"7797_CR59","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.stem.2011.07.002","volume":"9","author":"R Ambasudhan","year":"2011","unstructured":"Ambasudhan, R. et al. Direct reprogramming of adult human fibroblasts to functional neurons under defined conditions. Cell Stem Cell 9, 113\u2013118 (2011).","journal-title":"Cell Stem Cell"},{"key":"7797_CR60","doi-asserted-by":"publisher","first-page":"1745","DOI":"10.1007\/s11886-023-01990-8","volume":"25","author":"J.-R Hu","year":"2023","unstructured":"Hu, J.-R., Abdullah, A., Nanna, M. G. & Soufer, R. The Brain\u2013Heart Axis: Neuroinflammatory Interactions in Cardiovascular Disease. Curr. Cardiol. Rep. 25, 1745\u20131758 (2023).","journal-title":"Curr. Cardiol. Rep."},{"key":"7797_CR61","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1093\/eurheartj\/ehab061","volume":"42","author":"A Villringer","year":"2021","unstructured":"Villringer, A. & Laufs, U. Heart failure, cognition, and brain damage. Eur. Heart J. 42, 1579\u20131581 (2021).","journal-title":"Eur. Heart J."},{"key":"7797_CR62","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1080\/14737175.2020.1821654","volume":"20","author":"T. A Zesiewicz","year":"2020","unstructured":"Zesiewicz, T. A. et al. Emerging therapies in Friedreich\u2019s Ataxia. Expert Rev. Neurother. 20, 1215\u20131228 (2020).","journal-title":"Expert Rev. Neurother."},{"key":"7797_CR63","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1042\/ETLS20230017","volume":"7","author":"M. M Krasilnikova","year":"2023","unstructured":"Krasilnikova, M. M., Humphries, C. L. & Shinsky, E. M. Friedreich\u2019s ataxia: new insights. Emerg. Top. Life Sci. 7, 313\u2013323 (2023).","journal-title":"Emerg. Top. Life Sci."},{"key":"7797_CR64","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/s41586-021-04103-z","volume":"599","author":"J. D Backman","year":"2021","unstructured":"Backman, J. D. et al. Exome sequencing and analysis of 454,787 UK Biobank participants. Nature 599, 628\u2013634 (2021).","journal-title":"Nature"},{"key":"7797_CR65","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1038\/s41588-021-01011-w","volume":"54","author":"S. J Jurgens","year":"2022","unstructured":"Jurgens, S. J. et al. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Nat. Genet 54, 240\u2013250 (2022).","journal-title":"Nat. Genet"},{"key":"7797_CR66","doi-asserted-by":"publisher","DOI":"10.1126\/science.add7046","volume":"382","author":"K Siletti","year":"2023","unstructured":"Siletti, K. et al. Transcriptomic diversity of cell types across the adult human brain. Science 382, eadd7046 (2023).","journal-title":"Science"}],"container-title":["Communications Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s42003-025-07797-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s42003-025-07797-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s42003-025-07797-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T11:34:43Z","timestamp":1740828883000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s42003-025-07797-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,1]]},"references-count":66,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["7797"],"URL":"https:\/\/doi.org\/10.1038\/s42003-025-07797-3","relation":{},"ISSN":["2399-3642"],"issn-type":[{"type":"electronic","value":"2399-3642"}],"subject":[],"published":{"date-parts":[[2025,3,1]]},"assertion":[{"value":"28 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 February 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 March 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"344"}}