{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T10:39:34Z","timestamp":1781606374147,"version":"3.54.5"},"reference-count":70,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T00:00:00Z","timestamp":1753747200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Telethon Foundation","doi-asserted-by":"publisher","award":["GGP19177"],"award-info":[{"award-number":["GGP19177"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["SFARI 400101"],"award-info":[{"award-number":["SFARI 400101"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["802371"],"award-info":[{"award-number":["802371"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["101125054"],"award-info":[{"award-number":["101125054"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["ECS_00000017"],"award-info":[{"award-number":["ECS_00000017"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["CUP B83C22003930001"],"award-info":[{"award-number":["CUP B83C22003930001"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Intesa Sanpaolo Charity Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Creatine transporter deficiency (CTD) is an X-linked disorder due to the loss of SLC6A8 gene and presenting with low brain creatine, intellectual disability, autistic-like behaviour and seizures. No treatments are available yet for CTD, and little is known about the brain circuit alterations underlying its pathological endophenotypes.<\/jats:p>\n                  <jats:p>Here, we tracked brain network and behavioural dysfunction in a murine model of CTD at two stages of disease progression. Functional MRI (fMRI) mapping revealed widespread disruption of brain connectivity in Slc6a8-knockout (KO) mice, with robust somatomotor hypoconnectivity in juvenile animals and weaker and more focal alterations of cortical and subcortical connectivity in adulthood. Notably, perinatal AAV-mediated expression of human SLC6A8 in Slc6a8-KO mice robustly prevented juvenile functional MRI (fMRI) hypoconnectivity, an effect accompanied by the regression of multiple translationally relevant phenotypes, including reduced stereotyped movements, improved declarative memory and increased body weight, all of which persisted into adulthood. However, early cognitive deficits, impairments in working memory and residual fMRI hypoconnectivity in adult mice were not ameliorated by gene therapy. Furthermore, significant cognitive impairments were observed in wild-type mice receiving gene therapy, highlighting a potential detrimental effect of ectopic expression of SLC6A8 in healthy brain circuits. Finally, multivariate modelling in adult mice revealed a basal forebrain network whose activity was associated with behavioural performance and modulated by brain creatine levels. This brain-behaviour relationship was disrupted in Slc6a8-KO mice.<\/jats:p>\n                  <jats:p>Our results document robust network disruption in CTD and demonstrate that CTD pathology can be partially alleviated by perinatal genetic expression of SLC6A8, providing a foundation for the future development of experimental therapies for this genetic disorder.<\/jats:p>","DOI":"10.1093\/brain\/awaf275","type":"journal-article","created":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T11:32:30Z","timestamp":1753788750000},"page":"1043-1057","source":"Crossref","is-referenced-by-count":2,"title":["Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3150-0302","authenticated-orcid":false,"given":"Caterina","family":"Montani","sequence":"first","affiliation":[{"name":"Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems, CNCS@UNITN , Rovereto 38068 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovica","family":"Iovino","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, National Research Council (CNR) , Pisa 56124 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Di Vetta","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, National Research Council (CNR) , Pisa 56124 ,","place":["Italy"]},{"name":"Department of Biology, University of Pisa , Pisa 56126 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Charles Rene\u2019","family":"Pasquin Mariani","sequence":"additional","affiliation":[{"name":"Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems, CNCS@UNITN , Rovereto 38068 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A Elizabeth","family":"De Guzman","sequence":"additional","affiliation":[{"name":"Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems, CNCS@UNITN , Rovereto 38068 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Gini","sequence":"additional","affiliation":[{"name":"Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems, CNCS@UNITN , Rovereto 38068 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Galbusera","sequence":"additional","affiliation":[{"name":"Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems, CNCS@UNITN , Rovereto 38068 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"D\u2019Epifanio","sequence":"additional","affiliation":[{"name":"Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems, CNCS@UNITN , Rovereto 38068 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Ghirardini","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, National Research Council (CNR) , Pisa 56124 ,","place":["Italy"]},{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation , Pisa 56128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Cornuti","sequence":"additional","affiliation":[{"name":"BIO@SNS Lab, Scuola Normale Superiore di Pisa , Pisa 56126 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Dad\u00e0","sequence":"additional","affiliation":[{"name":"BIO@SNS Lab, Scuola Normale Superiore di Pisa , Pisa 56126 ,","place":["Italy"]},{"name":"Department of Statistics, Computer Science, Applications \u2018Giuseppe Parenti\u2019 (DiSIA), University of Florence , Florence 50134 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Putignano","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, National Research Council (CNR) , Pisa 56124 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Alessandr\u00ec","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation , Pisa 56128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Vasirani","sequence":"additional","affiliation":[{"name":"University of Genova , Genova 16126 ,","place":["Italy"]},{"name":"IRCCS Ospedale Policlinico San Martino , Genova 16132 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sine Mandrup","family":"Bertozzi","sequence":"additional","affiliation":[{"name":"Analytical Chemistry Facility, Istituto Italiano di Tecnologia , Genova 16163 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3766-8755","authenticated-orcid":false,"given":"Andrea","family":"Armirotti","sequence":"additional","affiliation":[{"name":"Analytical Chemistry Facility, Istituto Italiano di Tecnologia , Genova 16163 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biomarkers and therapeutic development","volume":"12","author":"Ghirardini","year":"2021","journal-title":"Genes (Basel)"},{"key":"2026030512072610900_awaf275-B4","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.biochi.2015.10.022","article-title":"Creatine biosynthesis and transport in health and disease","volume":"119","author":"Joncquel-Chevalier Curt","year":"2015","journal-title":"Biochimie"},{"key":"2026030512072610900_awaf275-B5","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.nbd.2009.10.022","article-title":"Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes","volume":"37","author":"Braissant","year":"2010","journal-title":"Neurobiol Dis"},{"key":"2026030512072610900_awaf275-B6","doi-asserted-by":"crossref","first-page":"147627","DOI":"10.1016\/j.brainres.2021.147627","article-title":"GATM and GAMT synthesize creatine locally throughout the mammalian body and within oligodendrocytes of the 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