{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:16:35Z","timestamp":1783383395513,"version":"3.54.6"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009193","name":"Marsden Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009193","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Curekids New Zealand"},{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100031366","name":"ERA-Net NEURON","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100031366","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007797","name":"University of Helsinki","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007797","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Japan Spina Bifida & Hydrocephalus Research Foundation"},{"DOI":"10.13039\/501100005927","name":"Daiichi Sankyo Foundation of Life Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005927","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Sustainable Wellbeing Across Lifespan"},{"DOI":"10.13039\/501100007877","name":"Fujita Health University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007877","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The establishment of neuronal polarity, whereby somatodendritic and axonal cellular compartments are defined, is a critical determinant for the development of neuronal networks and patterning during neurogenesis. The axon initial segment (AIS), a key structure in the establishment of this polarity, is formed through interactions between the microtubule and actin cytoskeleton, Ankyrin G, TRIM46 and multiple transmembrane and perimembranous proteins.<\/jats:p>\n                  <jats:p>Here, we implicate a component of the septin cytoskeleton, Septin-2, in the maintenance and function of the AIS through the study of mutations found in five unrelated human individuals and one mother-daughter duo with a majority presenting with cognitive impairment. Septins form octameric rods that assemble into higher-order filamentous scaffolds driven by Septin-2 homodimerization. Mutant Septin-2 is predicted to impart a dominant negative blockade on septin octamers forming these structures by precluding Septin-2 homodimerization. Expression of mutant Septin-2 constructs in neurons leads to the disappearance of canonical hallmarks of the AIS. This includes loss of Ankyrin G in the AIS, aberrant localization of MAP2 within the distal axon, axonal shortening and electrophysiological hypoexcitability. We further show that Septin-2 binds to a neuron-specific domain of Ankyrin G, an interaction that is largely ablated by these mutations.<\/jats:p>\n                  <jats:p>These data establish a role for Septin-2 in the maintenance and function of the AIS and implicate cytoskeletal structures composed of septin oligomers in the establishment of higher cognitive functions in humans.<\/jats:p>","DOI":"10.1093\/brain\/awaf468","type":"journal-article","created":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T12:46:31Z","timestamp":1765889191000},"page":"2533-2549","source":"Crossref","is-referenced-by-count":0,"title":["A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development"],"prefix":"10.1093","volume":"149","author":[{"given":"Luisa","family":"Weiss","sequence":"first","affiliation":[{"name":"Laboratory for Genomic Medicine, Paediatrics and Child Health, Dunedin School of Medicine, University of Otago , Dunedin 9016 ,","place":["New Zealand"]},{"name":"Institute for Human Genetics, Universit\u00e4tsklinik Erlangen , Erlangen 91054 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Macarena","family":"Pavez","sequence":"additional","affiliation":[{"name":"Department of Anatomy, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Labudina","sequence":"additional","affiliation":[{"name":"Laboratory for Genomic Medicine, Paediatrics and Child Health, Dunedin School of Medicine, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliia","family":"Andriichuk","sequence":"additional","affiliation":[{"name":"Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki , Helsinki 00014 ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Psychology, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Jones","sequence":"additional","affiliation":[{"name":"Laboratory for Genomic Medicine, Paediatrics and Child Health, Dunedin School of Medicine, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deanna","family":"Barwick","sequence":"additional","affiliation":[{"name":"Department of Anatomy, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zandra","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Laboratory for Genomic Medicine, Paediatrics and Child Health, Dunedin School of Medicine, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Indranil","family":"Basak","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Morgan","sequence":"additional","affiliation":[{"name":"Laboratory for Genomic Medicine, Paediatrics and Child Health, Dunedin School of Medicine, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Neuhann","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, MGZ\u2014Medizinisch Genetisches Zentrum M\u00fcnchen , M\u00fcnchen 80335 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics Service, Royal Devon University Hospital , Exeter EX2 5DW ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Giltay","sequence":"additional","affiliation":[{"name":"Division Laboratories, Pharmacy and Biomedical Genetics, Genetics Department, University Medical Center Utrecht , Utrecht 3584 CX ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6543-6225","authenticated-orcid":false,"given":"Emanuele","family":"Agolini","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children Hospital, IRCCS , Rome 00146 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children Hospital, IRCCS , Rome 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Children\u2019s Hospital , Columbus, OH 43205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leeran B","family":"Dublin-Ryan","sequence":"additional","affiliation":[{"name":"Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children\u2019s Hospital , Columbus, OH 43205 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of Otago , Dunedin 9016 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nataylia","family":"Di Donato","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, MHH Hannover , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greg","family":"Gimenez","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Otago , Dunedin 9016 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