{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:02:35Z","timestamp":1791928955851,"version":"4.3.4"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds voor Wetenschappelijk Onderzoek","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100012220","name":"Hercules Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012220","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Vlaamse Parkinson Liga"},{"name":"Strategic Research Program Financing of the VUB"},{"DOI":"10.13039\/100011102","name":"European Commission Seventh Framework Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012391","name":"FENS Kavli Network of Excellence","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100012391","id-type":"DOI","asserted-by":"crossref"}]},{"name":"American Academy of Neurology Institute"},{"DOI":"10.13039\/100005331","name":"American Brain Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005331","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Clinical Research Training Fellowship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2\/Bub2\/Cdc16 (TBC) domain and a TBC\/lysin motif domain\/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome\/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http:\/\/omim.org\/entry\/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in all three affected patients, but exercise-induced dystonia persisted into adulthood in two. Furthermore, we identified three additional sporadic paediatric patients with a remarkably similar phenotype, two of whom had compound heterozygous mutations consisting of an in-frame deletion I81_K84 and an A500V mutation, and the third carried T182M and G511R missense mutations, overall revealing that all six patients harbour a missense mutation in the subdomain of TLDc between residues 500 and 511. We solved the crystal structure of the conserved Drosophila TLDc domain. This allowed us to predict destabilizing effects of the G501R and G511R mutations and, to a lesser degree, of R360H and potentially A500V. Next, we characterized the functional consequences of a strong and a weak TLDc mutation (TBC1D24G501R and TBC1D24R360H) using Drosophila, where TBC1D24\/Skywalker regulates synaptic vesicle trafficking. In a Drosophila model neuronally expressing human TBC1D24, we demonstrated that the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, while TBC1D24R360H is benign. The neuronal phenotypes of the TBC1D24G501R mutation are consistent with exacerbated oxidative stress sensitivity, which is rescued by treating TBC1D24G501R mutant animals with antioxidants N-acetylcysteine amide or \u03b1-tocopherol as indicated by restored synaptic vesicle trafficking levels and sustained behavioural activity. Our data thus show that mutations in the TLDc domain of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. The humanized TBC1D24G501R fly model exhibits sustained activity and vesicle transport defects. We propose that the TBC1D24\/Sky TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies. The TLDc and TBC domain mutations\u2019 response to antioxidant treatment we observed in the animal model suggests a potential for combining antioxidant-based therapeutic approaches to TBC1D24-associated disorders with previously described lipid-altering strategies for TBC domain mutations.<\/jats:p>","DOI":"10.1093\/brain\/awz175","type":"journal-article","created":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T15:13:45Z","timestamp":1559834025000},"page":"2319-2335","source":"Crossref","is-referenced-by-count":58,"title":["TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model"],"prefix":"10.1093","volume":"142","author":[{"given":"Kevin","family":"L\u00fcthy","sequence":"first","affiliation":[{"name":"VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium"},{"name":"KU Leuven, Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Mei","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children\u2019s Hospital A. Meyer-University of Florence, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baptiste","family":"Fischer","sequence":"additional","affiliation":[{"name":"VIB-VUB Center for Structural Biology, Brussels, Belgium"},{"name":"Vrije Universiteit Brussel, Structural Biology Brussels, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"De Fusco","sequence":"additional","affiliation":[{"name":"San Raffaele Scientific Institute, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jef","family":"Swerts","sequence":"additional","affiliation":[{"name":"VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium"},{"name":"KU Leuven, Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jone","family":"Paesmans","sequence":"additional","affiliation":[{"name":"VIB-VUB Center for Structural Biology, Brussels, Belgium"},{"name":"Vrije Universiteit Brussel, Structural Biology Brussels, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Parrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children\u2019s Hospital A. Meyer-University of Florence, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Lubarr","sequence":"additional","affiliation":[{"name":"Mount Sinai Beth Israel, Department of Neurology, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge A","family":"Meijer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neurosciences, CHU Sainte-Justine and University of Montreal, Montreal, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine M","family":"Mackenzie","sequence":"additional","affiliation":[{"name":"Lucile Packard Children\u2019s Hospital, Stanford University, Palo Alto, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang-Tso","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Cittaro","sequence":"additional","affiliation":[{"name":"San Raffaele Scientific Institute, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Aridon","sequence":"additional","affiliation":[{"name":"Department of Experimental Biomedicine and Clinical Neurosciences, University of Palermo, Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils","family":"Schoovaerts","sequence":"additional","affiliation":[{"name":"VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium"},{"name":"KU Leuven, Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Vers\u00e9es","sequence":"additional","affiliation":[{"name":"VIB-VUB Center for Structural Biology, Brussels, Belgium"},{"name":"Vrije Universiteit Brussel, Structural Biology Brussels, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrik","family":"Verstreken","sequence":"additional","affiliation":[{"name":"VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium"},{"name":"KU Leuven, Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Casari","sequence":"additional","affiliation":[{"name":"San Raffaele University, Milan, Italy"},{"name":"Telethon Institute of Genetics and Medicine, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children\u2019s Hospital A. 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