{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T03:47:42Z","timestamp":1777866462354,"version":"3.51.4"},"reference-count":74,"publisher":"The Company of Biologists","issue":"4","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":29,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia"},{"name":"the European Regional Development Fund; COMPETE2030 and Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Onset of many neurodegenerative and neuromuscular diseases usually starts in adulthood; however, recent advances point towards neurodevelopmental changes as drivers of late neurodegeneration. How early neuropathological features occur under these conditions remains unclear, but this knowledge would be critical for timely therapeutic intervention. Here, we provide evidence that neurodevelopmental axonal defects initiate a motor phenotype in a zebrafish model of spinocerebellar ataxia type 37 (SCA37), a degenerative hereditary disease caused by an ATTTC repeat in the DAB1 gene. We investigated neuronal defects triggered by the embryonic AUUUC repeat RNA from the DAB1 gene and their effects later in life by transiently expressing this RNA in embryos and analyzing innervation and motor function. We found abnormalities in motor neuron axonal outgrowth and muscle innervation. We also discovered disrupted embryonic motor activity, and reduced locomotor distance and velocity in late adult zebrafish, demonstrating motor impairment. Moreover, we showed that protein expression of the splicing regulator NOVA2 rescues axonal defects, indicating dysfunction of NOVA2-regulated neurodevelopmental processes. Overall, our results establish embryonic expression of the AUUUC repeat RNA as a driver of axonal and synaptic abnormalities, interfering with neuronal circuits and culminating in adult motor dysfunction.<\/jats:p>","DOI":"10.1242\/dmm.052636","type":"journal-article","created":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:48:47Z","timestamp":1773924527000},"source":"Crossref","is-referenced-by-count":1,"title":["Embryonic spinocerebellar ataxia type 37-associated AUUUC repeat RNA causes neurodevelopmental defects"],"prefix":"10.1242","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8910-3609","authenticated-orcid":false,"given":"Ana F.","family":"Castro","sequence":"first","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 1 Genetics of Cognitive Dysfunction Laboratory , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]},{"name":"ICBAS-School of Medicine and Biomedical Sciences Abel Salazar, University of Porto 2 , Rua Jorge de Viterbo Ferreira 228, 4050-313 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4340-0736","authenticated-orcid":false,"given":"Ana S.","family":"Figueiredo","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 1 Genetics of Cognitive Dysfunction Laboratory , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]},{"name":"ICBAS-School of Medicine and Biomedical Sciences Abel Salazar, University of Porto 2 , Rua Jorge de Viterbo Ferreira 228, 4050-313 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana R.","family":"Loureiro","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 1 Genetics of Cognitive Dysfunction Laboratory , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria M.","family":"Azevedo","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 3 Advanced Light Microscopy Platform , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1148-2159","authenticated-orcid":false,"given":"Paula","family":"Sampaio","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 3 Advanced Light Microscopy Platform , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1428-0691","authenticated-orcid":false,"given":"Ana M.","family":"Valentim","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 4 Laboratory Animal Science , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8591-7138","authenticated-orcid":false,"given":"Jos\u00e9","family":"Bessa","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 5 Vertebrate Development and Regeneration Laboratory , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2610-5260","authenticated-orcid":false,"given":"Isabel","family":"Silveira","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology and i3S-Institute for Research and Innovation in Health Sciences, University of Porto 1 Genetics of Cognitive Dysfunction Laboratory , , Rua Alfredo Allen 208, 4200-135 Porto ,","place":["Portugal"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"2026043004434277800_DMM052636C1","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1001\/archneur.60.4.610","article-title":"Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family","volume":"60","author":"Alonso","year":"2003","journal-title":"Arch. 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