{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T09:07:46Z","timestamp":1790068066521,"version":"4.0.1"},"reference-count":123,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Wellcome Trust","award":["10.35802\/110061"],"award-info":[{"award-number":["10.35802\/110061"],"id":[{"id":"10.35802\/110061","id-type":"DOI","asserted-by":"publisher"}]}],"id":[{"id":"https:\/\/ror.org\/029chgv08","id-type":"ROR","asserted-by":"crossref"}]},{"award":["10.35802\/110061"],"award-info":[{"award-number":["10.35802\/110061"],"id":[{"id":"10.35802\/110061","id-type":"DOI","asserted-by":"publisher"}]}],"id":[{"id":"https:\/\/ror.org\/029chgv08","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Novo Nordisk Fonden","award":["NNF21OC0065969"],"award-info":[{"award-number":["NNF21OC0065969"]}],"id":[{"id":"https:\/\/ror.org\/04txyc737","id-type":"ROR","asserted-by":"crossref"}]},{"award":["NNF21OC0065969"],"award-info":[{"award-number":["NNF21OC0065969"]}],"id":[{"id":"https:\/\/ror.org\/04txyc737","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Villum Fonden","award":["00054496"],"award-info":[{"award-number":["00054496"]}],"id":[{"id":"https:\/\/ror.org\/05nqkay65","id-type":"ROR","asserted-by":"crossref"}]},{"award":["00054496"],"award-info":[{"award-number":["00054496"]}],"id":[{"id":"https:\/\/ror.org\/05nqkay65","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>\n                    Missense variants in the O-GlcNAc transferase (\n                    <jats:italic>OGT<\/jats:italic>\n                    ) gene have recently been shown to segregate with a syndromic form of intellectual disability (OGT-ID), underscoring the importance of protein O-GlcNAcylation in brain function. However, the underlying pathophysiological mechanisms linking ID to potential OGT malfunction\u2014whether developmental, neurophysiological, or both \u2013 remain unclear. Here, we present comprehensive analyses encompassing behaviour and brain architecture of a rodent model carrying the pathogenic C921Y OGT-ID variant. These mice show a range of behavioural deficits, including hyperactivity, impulsivity, and associative learning phenotypes. Structural studies, using micro-computed tomography and magnetic resonance imaging, revealed reduced skull size, microcephaly, reduced cortical thickness and hypoplastic corpus callosum. Detailed histological analyses revealed dysplastic changes in the neocortex, predominantly affecting the superficial layers of the cingulate cortex. Mechanistically, quantitative proteomic analyses revealed O-GlcNAc dyshomeostasis associated with distinct perturbed molecular pathways involved in brain development. Taken together, these data reveal neurodevelopmental defects associated with O-GlcNAc dyshomeostasis and provide a platform for dissecting mechanism and treatments of OGT-ID.\n                  <\/jats:p>","DOI":"10.7554\/elife.107170","type":"journal-article","created":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T18:30:48Z","timestamp":1757097048000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.107170","source":"Crossref","is-referenced-by-count":1,"title":["Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity"],"prefix":"10.7554","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0965-9165","authenticated-orcid":true,"given":"Florence","family":"Authier","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"conceptualization","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"given":"Asad","family":"Jan","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Core Center for Molecular Morphology, Department of Clinical Medicine, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"given":"Islam","family":"Faress","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0639-6718","authenticated-orcid":true,"given":"Christian Stald","family":"Skoven","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/040r8fr65","id-type":"ROR","asserted-by":"publisher"}],"name":"CFIN, Aarhus Hospital","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Iria","family":"Esperon-Abril","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"}]},{"given":"Shagana","family":"Tharmakulasingam Balasubramaniam","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"}]},{"given":"K\u00e9vin-S\u00e9bastien","family":"Coquelin","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Jens R","family":"Nyengaard","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Core Center for Molecular Morphology, Department of Clinical Medicine, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Carsten","family":"Scavenius","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Benedetta","family":"Attianese","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Oscar G","family":"Sevillano-Quispe","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"visualization","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4242-9158","authenticated-orcid":true,"given":"Simon Fristed","family":"Eskildsen","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/040r8fr65","id-type":"ROR","asserted-by":"publisher"}],"name":"CFIN, Aarhus Hospital","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9386-6679","authenticated-orcid":true,"given":"Jesper Skovhus","family":"Thomsen","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Biomedicine, Aarhus University","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Brian","family":"Hansen","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/040r8fr65","id-type":"ROR","asserted-by":"publisher"}],"name":"CFIN, Aarhus Hospital","place":["Aarhus, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1499-6908","authenticated-orcid":true,"given":"Daan MF","family":"van Aalten","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01aj84f44","id-type":"ROR","asserted-by":"publisher"}],"name":"Section for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University","place":["Aarhus, Denmark"]},{"id":[{"id":"https:\/\/ror.org\/03h2bxq36","id-type":"ROR","asserted-by":"publisher"}],"name":"Division of Cell and Developmental Biology, School of Life Sciences, University of Dundee","place":["Dundee, United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"corresponding-author","vocabulary":"crossref"},{"role":"conceptualization","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]}],"member":"4374","published-online":{"date-parts":[[2026,9,22]]},"reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1016\/j.ajhg.2009.10.007","type":"journal-article","article-title":"Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia","volume":"85","author":"Abdollahi","year":"2009","journal-title":"American Journal of Human Genetics"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"93","DOI":"10.11005\/jbm.2023.30.1.93","type":"journal-article","article-title":"Sphenoid bone determines the curvature of the cranial vault in postnatal skull development in C57BL\/6 Mice","volume":"30","author":"Adasooriya","year":"2023","journal-title":"Journal of Bone Metabolism"},{"key":"bib3","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0138-8","type":"journal-article","article-title":"Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes","volume":"8","author":"Allemang-Grand","year":"2017","journal-title":"Molecular Autism"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"4400","DOI":"10.1111\/bph.15859","type":"journal-article","article-title":"Reelin cells and sex-dependent synaptopathology in autism following postnatal immune activation","volume":"179","author":"Ardalan","year":"2022","journal-title":"British Journal of Pharmacology"},{"key":"bib5","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.050671","type":"journal-article","article-title":"Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability","volume":"17","author":"Authier","year":"2024","journal-title":"Disease Models & Mechanisms"},{"key":"bib6","doi-asserted-by":"publisher","DOI":"10.3389\/fninf.2014.00044","type":"journal-article","article-title":"The Insight ToolKit image registration framework","volume":"8","author":"Avants","year":"2014","journal-title":"Frontiers in Neuroinformatics"},{"key":"bib7","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-17204-5","type":"journal-article","article-title":"QuPath: Open source software for digital pathology image analysis","volume":"7","author":"Bankhead","year":"2017","journal-title":"Scientific Reports"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1055\/s-2007-973750","type":"journal-article","article-title":"A classification scheme for malformations of cortical development","volume":"27","author":"Barkovich","year":"1996","journal-title":"Neuropediatrics"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"1873","DOI":"10.1212\/01.wnl.0000183747.05269.2d","type":"journal-article","article-title":"A developmental and genetic classification for malformations of cortical development","volume":"65","author":"Barkovich","year":"2005","journal-title":"Neurology"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1093\/brain\/aws019","type":"journal-article","article-title":"A developmental and genetic classification for malformations of cortical development: update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/ajmg.b.10035","type":"journal-article","article-title":"White matter tract alterations in fragile X syndrome: preliminary evidence from diffusion tensor imaging","volume":"118B","author":"Barnea-Goraly","year":"2003","journal-title":"American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics"},{"key":"bib12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0196161","type":"journal-article","article-title":"Stroke infarct volume estimation in fixed tissue: Comparison of diffusion kurtosis imaging to diffusion weighted imaging and histology in a rodent MCAO model","volume":"13","author":"Bay","year":"2018","journal-title":"PLOS ONE"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","type":"journal-article","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"Journal of the Royal Statistical Society Series B"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1111\/j.1528-1167.2010.02777.x","type":"journal-article","article-title":"The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission","volume":"52","author":"Bl\u00fcmcke","year":"2011","journal-title":"Epilepsia"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1016\/j.cell.2010.12.030","type":"journal-article","article-title":"O-GlcNAc transferase catalyzes site-specific proteolysis of HCF-1","volume":"144","author":"Capotosti","year":"2011","journal-title":"Cell"},{"key":"bib16","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-1-67","type":"journal-article","article-title":"Focal cortical dysplasias in autism spectrum disorders","volume":"1","author":"Casanova","year":"2013","journal-title":"Acta Neuropathologica Communications"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"2157","DOI":"10.1176\/ajp.2006.163.12.2157","type":"journal-article","article-title":"Reduced relationship to cortical white matter volume revealed by tractography-based segmentation of the corpus callosum in young children with developmental delay","volume":"163","author":"Cascio","year":"2006","journal-title":"The American Journal of Psychiatry"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1002\/humu.22919","type":"journal-article","article-title":"Mutation update of ARSA and PSAP Genes causing metachromatic leukodystrophy","volume":"37","author":"Cesani","year":"2016","journal-title":"Human Mutation"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.braindev.2021.10.009","type":"journal-article","article-title":"A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders","volume":"44","author":"Chan","year":"2022","journal-title":"Brain & Development"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1177\/0883073815604229","type":"journal-article","article-title":"The effects of the severity of periventricular leukomalacia on the neuropsychological outcomes of preterm children","volume":"31","author":"Choi","year":"2016","journal-title":"Journal of Child Neurology"},{"key":"bib21","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2019.116406","type":"journal-article","article-title":"Diffusion Kurtosis Imaging maps neural damage in the EAE model of multiple sclerosis","volume":"208","author":"Chuhutin","year":"2020","journal-title":"NeuroImage"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"1080","DOI":"10.1046\/j.1471-4159.2001.00655.x","type":"journal-article","article-title":"Cytosolic O-glycosylation is abundant in nerve terminals","volume":"79","author":"Cole","year":"2001","journal-title":"Journal of Neurochemistry"},{"key":"bib23","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1097\/00004728-199403000-00005","type":"journal-article","article-title":"Automatic 3D intersubject registration of MR volumetric data in standardized Talairach space","volume":"18","author":"Collins","year":"1994","journal-title":"Journal of Computer Assisted Tomography"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1093\/glycob\/cwx055","type":"journal-article","article-title":"O-GlcNAc transferase regulates transcriptional activity of human Oct4","volume":"27","author":"Constable","year":"2017","journal-title":"Glycobiology"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1016\/j.celrep.2018.06.100","type":"journal-article","article-title":"The ESCRT-III Protein CHMP1A mediates secretion of sonic hedgehog on a distinctive subtype of extracellular vesicles","volume":"24","author":"Coulter","year":"2018","journal-title":"Cell Reports"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1109\/TMI.2007.906087","type":"journal-article","article-title":"An optimized blockwise nonlocal means denoising filter for 3-D magnetic resonance images","volume":"27","author":"Coupe","year":"2008","journal-title":"IEEE Transactions on Medical Imaging"},{"key":"bib27","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.90376","type":"journal-article","article-title":"Rescuable sleep and synaptogenesis phenotypes in a Drosophila model of O-GlcNAc transferase intellectual disability","volume":"13","author":"Czajewski","year":"2024","journal-title":"eLife"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1038\/nrm2767","type":"journal-article","article-title":"Ubiquitin-binding domains - from structures to functions","volume":"10","author":"Dikic","year":"2009","journal-title":"Nature Reviews. Molecular Cell Biology"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.bbr.2014.05.046","type":"journal-article","article-title":"Behavioral analysis of male and female Fmr1 knockout mice on C57BL\/6 background","volume":"271","author":"Ding","year":"2014","journal-title":"Behavioural Brain Research"},{"key":"bib30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100460","type":"journal-article","article-title":"A closer look at ARSA activity in a patient with metachromatic leukodystrophy","volume":"19","author":"Doherty","year":"2019","journal-title":"Molecular Genetics and Metabolism Reports"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1111\/joa.13856","type":"journal-article","article-title":"Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome","volume":"243","author":"Donovan","year":"2023","journal-title":"Journal of Anatomy"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.neuroimage.2008.03.037","type":"journal-article","article-title":"High resolution three-dimensional brain atlas using an average magnetic resonance image of 40 adult C57Bl\/6J mice","volume":"42","author":"Dorr","year":"2008","journal-title":"NeuroImage"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"1450","DOI":"10.1016\/j.ajhg.2021.06.003","type":"journal-article","article-title":"Unique variants in CLCN3, encoding an endosomal anion\/proton exchanger, underlie a spectrum of neurodevelopmental disorders","volume":"108","author":"Duncan","year":"2021","journal-title":"American Journal of Human Genetics"},{"key":"bib34","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-17878-y","type":"journal-article","article-title":"Ybx1 fine-tunes PRC2 activities to control embryonic brain development","volume":"11","author":"Evans","year":"2020","journal-title":"Nature Communications"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"1907","DOI":"10.1093\/brain\/awl133","type":"journal-article","article-title":"Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients","volume":"129","author":"Fauser","year":"2006","journal-title":"Brain"},{"key":"bib36","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1010159","type":"journal-article","article-title":"Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila","volume":"18","author":"Fenckova","year":"2022","journal-title":"PLOS Genetics"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.seizure.2022.07.007","type":"journal-article","article-title":"Genetic variations in GABA metabolism and epilepsy","volume":"101","author":"Feng","year":"2022","journal-title":"Seizure"},{"key":"bib38","doi-asserted-by":"publisher","DOI":"10.1186\/s13064-015-0033-y","type":"journal-article","article-title":"Formation of functional areas in the cerebral cortex is disrupted in a mouse model of autism spectrum disorder","volume":"10","author":"Fenlon","year":"2015","journal-title":"Neural Development"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1038\/nature10656","type":"journal-article","article-title":"GlcNAcylation of histone H2B facilitates its monoubiquitination","volume":"480","author":"Fujiki","year":"2011","journal-title":"Nature"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"9838","DOI":"10.1074\/jbc.M010420200","type":"journal-article","article-title":"Dynamic O-glycosylation of nuclear and cytosolic proteins: cloning and characterization of a neutral, cytosolic beta-N-acetylglucosaminidase from human brain","volume":"276","author":"Gao","year":"2001","journal-title":"The Journal of Biological Chemistry"},{"key":"bib41","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2022.905783","type":"journal-article","article-title":"Kdm6b haploinsufficiency causes ASD\/ADHD-like behavioral deficits in mice","volume":"16","author":"Gao","year":"2022","journal-title":"Frontiers in Behavioral Neuroscience"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1001\/jamapsychiatry.2014.2206","type":"journal-article","article-title":"Identification of a common neurobiological substrate for mental illness","volume":"72","author":"Goodkind","year":"2015","journal-title":"JAMA Psychiatry"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1101\/gad.1256405","type":"journal-article","article-title":"The role of the Rho GTPases in neuronal development","volume":"19","author":"Govek","year":"2005","journal-title":"Genes & Development"},{"key":"bib44","doi-asserted-by":"publisher","DOI":"10.1186\/s13104-016-2131-2","type":"journal-article","article-title":"Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report","volume":"9","author":"Gupta","year":"2016","journal-title":"BMC Research Notes"},{"key":"bib45","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1159\/000515697","type":"journal-article","article-title":"Evaluation of sporadic and familial cases with craniofrontonasal syndrome: A wide clinical spectrum and identification of a novel EFNB1 gene mutation","volume":"12","author":"G\u00fcrsoy","year":"2021","journal-title":"Molecular Syndromology"},{"key":"bib46","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1002\/mrm.24743","type":"journal-article","article-title":"Experimentally and computationally fast method for estimation of a mean kurtosis","volume":"69","author":"Hansen","year":"2013","journal-title":"Magnetic Resonance in Medicine"},{"key":"bib47","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1002\/mrm.26055","type":"journal-article","article-title":"Experimental considerations for fast kurtosis imaging","volume":"76","author":"Hansen","year":"2016","journal-title":"Magnetic Resonance in Medicine"},{"key":"bib48","doi-asserted-by":"publisher","DOI":"10.3389\/fphy.2017.00040","type":"journal-article","article-title":"Recent developments in fast kurtosis imaging","volume":"5","author":"Hansen","year":"2017","journal-title":"Frontiers in Physics"},{"key":"bib49","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.3741","type":"journal-article","article-title":"White matter biomarkers from fast protocols using axially symmetric diffusion kurtosis imaging","volume":"30","author":"Hansen","year":"2017","journal-title":"NMR in Biomedicine"},{"key":"bib50","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2023.1228218","type":"journal-article","article-title":"Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence","volume":"14","author":"He","year":"2023","journal-title":"Frontiers in Neurology"},{"key":"bib51","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1038\/ejhg.2012.265","type":"journal-article","article-title":"Craniofacial characteristics of fragile X syndrome in mouse and man","volume":"21","author":"Heulens","year":"2013","journal-title":"European Journal of Human Genetics"},{"key":"bib52","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1002\/ar.25307","type":"journal-article","article-title":"Neurocranial growth in the OIM mouse model of osteogenesis imperfecta","volume":"307","author":"Husain","year":"2024","journal-title":"Anatomical Record"},{"key":"bib53","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.nbd.2015.08.016","type":"journal-article","article-title":"eIF4E\/Fmr1 double mutant mice display cognitive impairment in addition to ASD-like behaviors","volume":"83","author":"Huynh","year":"2015","journal-title":"Neurobiology of Disease"},{"key":"bib54","doi-asserted-by":"publisher","first-page":"12432","DOI":"10.1523\/JNEUROSCI.3648-14.2015","type":"journal-article","article-title":"Neuronal heterotopias affect the activities of distant brain areas and lead to behavioral deficits","volume":"35","author":"Ishii","year":"2015","journal-title":"The Journal of Neuroscience"},{"key":"bib55","doi-asserted-by":"publisher","first-page":"1432","DOI":"10.1002\/mrm.20508","type":"journal-article","article-title":"Diffusional kurtosis imaging: the quantification of non-gaussian water diffusion by means of magnetic resonance imaging","volume":"53","author":"Jensen","year":"2005","journal-title":"Magnetic Resonance in Medicine"},{"key":"bib56","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.neuroimage.2009.08.053","type":"journal-article","article-title":"Neurite density from magnetic resonance diffusion measurements at ultrahigh field: comparison with light microscopy and electron microscopy","volume":"49","author":"Jespersen","year":"2010","journal-title":"NeuroImage"},{"key":"bib57","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2023.216480","type":"journal-article","article-title":"STING activation counters glioblastoma by vascular alteration and immune surveillance","volume":"579","author":"Joseph","year":"2023","journal-title":"Cancer Letters"},{"key":"bib58","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1097\/NEN.0b013e31821ccf1c","type":"journal-article","article-title":"Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization","volume":"70","author":"Judkins","year":"2011","journal-title":"Journal of Neuropathology and Experimental Neurology"},{"key":"bib59","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1016\/j.neuroimage.2016.07.001","type":"journal-article","article-title":"Biophysical modeling of high field diffusion MRI demonstrates micro-structural aberration in chronic mild stress rat brain","volume":"142","author":"Khan","year":"2016","journal-title":"NeuroImage"},{"key":"bib60","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2024.1498133","type":"journal-article","article-title":"The effects of locus coeruleus ablation on mouse brain volume and microstructure evaluated by high-field MRI","volume":"18","author":"Knopper","year":"2024","journal-title":"Frontiers in Cellular Neuroscience"},{"key":"bib61","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1038\/s41386-021-01137-9","type":"journal-article","article-title":"Development of prefrontal cortex","volume":"47","author":"Kolk","year":"2022","journal-title":"Neuropsychopharmacology"},{"key":"bib62","doi-asserted-by":"publisher","first-page":"1280","DOI":"10.1038\/nn.4382","type":"journal-article","article-title":"Value, search, persistence and model updating in anterior cingulate cortex","volume":"19","author":"Kolling","year":"2016","journal-title":"Nature Neuroscience"},{"key":"bib63","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2023.108379","type":"journal-article","article-title":"Neocortical neuronal production and maturation defects in the TcMAC21 mouse model of Down syndrome","volume":"26","author":"Kurabayashi","year":"2023","journal-title":"iScience"},{"key":"bib64","doi-asserted-by":"publisher","first-page":"1684","DOI":"10.1073\/pnas.1621367114","type":"journal-article","article-title":"O-GlcNAc transferase regulates excitatory synapse maturity","volume":"114","author":"Lagerl\u00f6f","year":"2017","journal-title":"PNAS"},{"key":"bib65","doi-asserted-by":"publisher","first-page":"1235","DOI":"10.1126\/science.1243990","type":"journal-article","article-title":"HCF-1 is cleaved in the active site of O-GlcNAc transferase","volume":"342","author":"Lazarus","year":"2013","journal-title":"Science"},{"key":"bib66","doi-asserted-by":"publisher","first-page":"3699","DOI":"10.1093\/brain\/awaa320","type":"journal-article","article-title":"O-GlcNAcylation regulates dopamine neuron function, survival and degeneration in Parkinson disease","volume":"143","author":"Lee","year":"2020","journal-title":"Brain"},{"key":"bib67","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1093\/brain\/awt162","type":"journal-article","article-title":"The role of the posterior cingulate cortex in cognition and disease","volume":"137","author":"Leech","year":"2014","journal-title":"Brain"},{"key":"bib68","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.neuroimage.2008.02.019","type":"journal-article","article-title":"Cortical thickness measured from MRI in the YAC128 mouse model of Huntington\u2019s disease","volume":"41","author":"Lerch","year":"2008","journal-title":"NeuroImage"},{"key":"bib69","doi-asserted-by":"publisher","first-page":"3510","DOI":"10.1021\/jacs.7b13546","type":"journal-article","article-title":"O-GlcNAc transferase recognizes protein substrates using an asparagine ladder in the tetratricopeptide repeat (TPR) superhelix","volume":"140","author":"Levine","year":"2018","journal-title":"Journal of the American Chemical Society"},{"key":"bib70","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.5033","type":"journal-article","article-title":"Anesthesia-related brain microstructure modulations detected by diffusion magnetic resonance imaging","volume":"37","author":"Lindhardt","year":"2024","journal-title":"NMR in Biomedicine"},{"key":"bib71","doi-asserted-by":"publisher","first-page":"2487","DOI":"10.1007\/s00330-023-10141-0","type":"journal-article","article-title":"Detection of recurrent high-grade glioma using microstructure characteristics of distinct metabolic compartments in a multimodal and integrative 18F-FET PET\/fast-DKI approach","volume":"34","author":"Lohmeier","year":"2024","journal-title":"European Radiology"},{"key":"bib72","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2024.114966","type":"journal-article","article-title":"Identification of key regulatory genes involved in myelination after spinal cord injury by GSEA analysis","volume":"382","author":"Lv","year":"2024","journal-title":"Experimental Neurology"},{"key":"bib73","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1016\/j.neuroscience.2005.07.014","type":"journal-article","article-title":"A three-dimensional digital atlas database of the adult C57BL\/6J mouse brain by magnetic resonance microscopy","volume":"135","author":"Ma","year":"2005","journal-title":"Neuroscience"},{"key":"bib74","doi-asserted-by":"publisher","DOI":"10.3389\/neuro.05.001.2008","type":"journal-article","article-title":"In Vivo 3D Digital atlas database of the adult C57BL\/6J mouse brain by magnetic resonance microscopy","volume":"2","author":"Ma","year":"2008","journal-title":"Frontiers in Neuroanatomy"},{"key":"bib75","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0086576","type":"journal-article","article-title":"Automatic structural parcellation of mouse brain MRI using multi-atlas label fusion","volume":"9","author":"Ma","year":"2014","journal-title":"PLOS ONE"},{"key":"bib76","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2019.00011","type":"journal-article","article-title":"Study the longitudinal in vivo and cross-sectional ex vivo brain volume difference for disease progression and treatment effect on mouse model of tauopathy using automated MRI structural parcellation","volume":"13","author":"Ma","year":"2019","journal-title":"Frontiers in Neuroscience"},{"key":"bib77","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2024.107599","type":"journal-article","article-title":"O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome","volume":"300","author":"Mayfield","year":"2024","journal-title":"The Journal of Biological Chemistry"},{"key":"bib78","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-26796-6","type":"journal-article","article-title":"Cryo-EM structure provides insights into the dimer arrangement of the O-linked \u03b2-N-acetylglucosamine transferase OGT","volume":"12","author":"Meek","year":"2021","journal-title":"Nature Communications"},{"key":"bib79","doi-asserted-by":"publisher","first-page":"1680","DOI":"10.1128\/MCB.24.4.1680-1690.2004","type":"journal-article","article-title":"Ogt-dependent X-chromosome-linked protein glycosylation is a requisite modification in somatic cell function and embryo viability","volume":"24","author":"O\u2019Donnell","year":"2004","journal-title":"Molecular and Cellular Biology"},{"key":"bib80","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.049132","type":"journal-article","article-title":"An O -GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal","volume":"16","author":"Omelkov\u00e1","year":"2023","journal-title":"Disease Models & Mechanisms"},{"key":"bib81","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1016\/j.biopsych.2020.04.027","type":"journal-article","article-title":"cross-disorder analysis of brain structural abnormalities in six major psychiatric disorders: a secondary analysis of mega- and meta-analytical findings from the ENIGMA consortium","volume":"88","author":"Opel","year":"2020","journal-title":"Biological Psychiatry"},{"key":"bib82","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11010088","type":"journal-article","article-title":"Congenital disorders of glycosylation from a neurological perspective","volume":"11","author":"Paprocka","year":"2021","journal-title":"Brain Sciences"},{"key":"bib83","doi-asserted-by":"publisher","first-page":"3787","DOI":"10.1038\/emboj.2010.254","type":"journal-article","article-title":"Snail1 is stabilized by O-GlcNAc modification in hyperglycaemic condition","volume":"29","author":"Park","year":"2010","journal-title":"The EMBO Journal"},{"key":"bib84","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1093\/hmg\/9.8.1145","type":"journal-article","article-title":"(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features","volume":"9","author":"Peier","year":"2000","journal-title":"Human Molecular Genetics"},{"key":"bib85","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/zsad144","type":"journal-article","article-title":"Non-invasive detection of narcolepsy type I phenotypical features and disease progression by continuous home-cage monitoring of activity in two mouse models: the HCRT-KO and DTA model","volume":"46","author":"Piilgaard","year":"2023","journal-title":"Sleep"},{"key":"bib86","doi-asserted-by":"publisher","first-page":"14961","DOI":"10.1073\/pnas.1900065116","type":"journal-article","article-title":"Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability","volume":"116","author":"Pravata","year":"2019","journal-title":"PNAS"},{"key":"bib87","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1002\/1873-3468.13640","type":"journal-article","article-title":"A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability","volume":"594","author":"Pravata","year":"2020","journal-title":"FEBS Letters"},{"key":"bib88","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1038\/s41431-020-0589-9","type":"journal-article","article-title":"An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase","volume":"28","author":"Pravata","year":"2020","journal-title":"European Journal of Human Genetics"},{"key":"bib89","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1016\/j.neuroimage.2004.01.029","type":"journal-article","article-title":"Delayed myelination in children with developmental delay detected by volumetric MRI","volume":"22","author":"Pujol","year":"2004","journal-title":"NeuroImage"},{"key":"bib90","doi-asserted-by":"publisher","first-page":"D938","DOI":"10.1093\/nar\/gkad1082","type":"journal-article","article-title":"The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species","volume":"52","author":"Putman","year":"2024","journal-title":"Nucleic Acids Research"},{"key":"bib91","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-34729-5","type":"journal-article","article-title":"Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1+\/- mice","volume":"8","author":"Qvist","year":"2018","journal-title":"Scientific Reports"},{"key":"bib92","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.nlm.2008.09.012","type":"journal-article","article-title":"Habituation revisited: an updated and revised description of the behavioral characteristics of habituation","volume":"92","author":"Rankin","year":"2009","journal-title":"Neurobiology of Learning and Memory"},{"key":"bib93","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1093\/brain\/118.3.629","type":"journal-article","article-title":"Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy: Clinical, EEG and neuroimaging features in 100 adult patients","volume":"118 ( Pt 3)","author":"Raymond","year":"1995","journal-title":"Brain"},{"key":"bib94","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1097\/WNR.0000000000001517","type":"journal-article","article-title":"Increased expression of Fragile X mental retardation protein in malformative lesions of patients with focal cortical dysplasia","volume":"31","author":"Reynolds","year":"2020","journal-title":"Neuroreport"},{"key":"bib95","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1111\/j.1365-2990.2005.00585.x","type":"journal-article","article-title":"Neuropathology Techniques","volume":"31","author":"Robson","year":"2005","journal-title":"Neuropathology and Applied Neurobiology"},{"key":"bib96","doi-asserted-by":"publisher","DOI":"10.1186\/1744-9081-1-9","type":"journal-article","article-title":"Animal models of attention-deficit hyperactivity disorder","volume":"1","author":"Russell","year":"2005","journal-title":"Behavioral and Brain Functions"},{"key":"bib97","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1002\/jimd.12194","type":"journal-article","article-title":"Inborn errors of metabolism leading to neuronal migration defects","volume":"43","author":"Schiller","year":"2020","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"bib98","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneumeth.2022.109493","type":"journal-article","article-title":"Perfusion pressure determines vascular integrity and histomorphological quality following perfusion fixation of the brain","volume":"372","author":"Schwarzmaier","year":"2022","journal-title":"Journal of Neuroscience Methods"},{"key":"bib99","doi-asserted-by":"publisher","first-page":"10810","DOI":"10.1074\/jbc.RA118.002583","type":"journal-article","article-title":"O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling","volume":"293","author":"Selvan","year":"2018","journal-title":"The Journal of Biological Chemistry"},{"key":"bib100","doi-asserted-by":"publisher","first-page":"5735","DOI":"10.1073\/pnas.100471497","type":"journal-article","article-title":"The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny","volume":"97","author":"Shafi","year":"2000","journal-title":"PNAS"},{"key":"bib101","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1002\/mrm.21977","type":"journal-article","article-title":"Aldehyde fixative solutions alter the water relaxation and diffusion properties of nervous tissue","volume":"62","author":"Shepherd","year":"2009","journal-title":"Magnetic Resonance in Medicine"},{"key":"bib102","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1109\/42.668698","type":"journal-article","article-title":"A nonparametric method for automatic correction of intensity nonuniformity in MRI data","volume":"17","author":"Sled","year":"1998","journal-title":"IEEE Transactions on Medical Imaging"},{"key":"bib103","doi-asserted-by":"publisher","first-page":"1136","DOI":"10.1016\/j.neuroimage.2006.08.011","type":"journal-article","article-title":"Structural correlates of intellectual impairment and autistic features in adolescents","volume":"33","author":"Spencer","year":"2006","journal-title":"NeuroImage"},{"key":"bib104","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-014-0080-3","type":"journal-article","article-title":"Polymicrogyria: pathology, fetal origins and mechanisms","volume":"2","author":"Squier","year":"2014","journal-title":"Acta Neuropathologica Communications"},{"key":"bib105","doi-asserted-by":"publisher","first-page":"2125","DOI":"10.1523\/JNEUROSCI.3384-16.2017","type":"journal-article","article-title":"O-GlcNAc transferase is essential for sensory neuron survival and maintenance","volume":"37","author":"Su","year":"2017","journal-title":"The Journal of Neuroscience"},{"key":"bib106","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1352\/1934-9556-54.6.381","type":"journal-article","article-title":"The relation between intellectual functioning and adaptive behavior in the diagnosis of intellectual disability","volume":"54","author":"Tass\u00e9","year":"2016","journal-title":"Intellectual and Developmental Disabilities"},{"key":"bib107","doi-asserted-by":"publisher","first-page":"1719","DOI":"10.1093\/brain\/awf175","type":"journal-article","article-title":"Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome","volume":"125","author":"Tassi","year":"2002","journal-title":"Brain"},{"key":"bib108","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1136\/jnnp.34.4.369","type":"journal-article","article-title":"Focal dysplasia of the cerebral cortex in epilepsy","volume":"34","author":"Taylor","year":"1971","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"bib109","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0245844","type":"journal-article","article-title":"Heterogeneity of multiple sclerosis lesions in fast diffusional kurtosis imaging","volume":"16","author":"Thaler","year":"2021","journal-title":"PLOS ONE"},{"key":"bib110","doi-asserted-by":"publisher","first-page":"1472","DOI":"10.3174\/ajnr.A4311","type":"journal-article","article-title":"Mean diffusional kurtosis in patients with glioma: initial results with a fast imaging method in a clinical setting","volume":"36","author":"Tietze","year":"2015","journal-title":"AJNR. American Journal of Neuroradiology"},{"key":"bib111","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8199","type":"journal-article","article-title":"De novo mutations in PLXND1 and REV3L cause M\u00f6bius syndrome","volume":"6","author":"Tomas-Roca","year":"2015","journal-title":"Nature Communications"},{"key":"bib112","doi-asserted-by":"crossref","first-page":"3308","DOI":"10.1016\/S0021-9258(17)43295-9","type":"journal-article","article-title":"Topography and polypeptide distribution of terminal N-acetylglucosamine residues on the surfaces of intact lymphocytes: Evidence for O-linked GlcNAc","volume":"259","author":"Torres","year":"1984","journal-title":"The Journal of Biological Chemistry"},{"key":"bib113","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1074\/mcp.O112.018366","type":"journal-article","article-title":"Global identification and characterization of both O-GlcNAcylation and phosphorylation at the murine synapse","volume":"11","author":"Trinidad","year":"2012","journal-title":"Molecular & Cellular Proteomics"},{"key":"bib114","doi-asserted-by":"publisher","first-page":"8948","DOI":"10.1074\/jbc.M116.771030","type":"journal-article","article-title":"Identification and characterization of a missense mutation in the O-linked \u03b2-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability","volume":"292","author":"Vaidyanathan","year":"2017","journal-title":"The Journal of Biological Chemistry"},{"key":"bib115","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020653","type":"journal-article","article-title":"Diffusion-weighted MRI and quantitative biophysical modeling of hippocampal neurite loss in chronic stress","volume":"6","author":"Vestergaard-Poulsen","year":"2011","journal-title":"PLOS ONE"},{"key":"bib116","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1074\/mcp.T500040-MCP200","type":"journal-article","article-title":"O-Linked N-Acetylglucosamine proteomics of postsynaptic density preparations using lectin weak affinity chromatography and mass spectrometry","volume":"5","author":"Vosseller","year":"2006","journal-title":"Molecular & Cellular Proteomics"},{"key":"bib117","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.3001290","type":"journal-article","article-title":"Rapid microstructural plasticity in the cortical semantic network following a short language learning session","volume":"19","author":"Vukovic","year":"2021","journal-title":"PLOS Biology"},{"key":"bib118","doi-asserted-by":"publisher","first-page":"12621","DOI":"10.1074\/jbc.M117.790097","type":"journal-article","article-title":"Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability","volume":"292","author":"Willems","year":"2017","journal-title":"Journal of Biological Chemistry"},{"key":"bib119","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/(SICI)1097-0193(1996)4:1<58::AID-HBM4>3.0.CO;2-O","type":"journal-article","article-title":"A unified statistical approach for determining significant signals in images of cerebral activation","volume":"4","author":"Worsley","year":"1996","journal-title":"Human Brain Mapping"},{"key":"bib120","doi-asserted-by":"publisher","DOI":"10.1038\/s41597-021-00810-4","type":"journal-article","article-title":"The human O-GlcNAcome database and meta-analysis","volume":"8","author":"Wulff-Fuentes","year":"2021","journal-title":"Scientific Data"},{"key":"bib121","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2024.11.010","type":"journal-article","article-title":"Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants","volume":"20","author":"Yuan","year":"2025","journal-title":"Stem Cell Reports"},{"key":"dataset1","doi-asserted-by":"publisher","DOI":"10.6019\/PXD074604","type":"dataset","article-title":"Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity","volume-title":"PRIDE","author":"Authier","year":"2026","unstructured":"Authier F, Scavenius C. 2026. Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity. PRIDE."},{"key":"dataset2","type":"dataset","article-title":"Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity","volume-title":"Open Science Framework","author":"Authier","year":"2026","unstructured":"Authier F, Hansen B, Skoven CS, Eskildsen SF. 2026. Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity. Open Science Framework. https:\/\/osf.io\/b5zqr\/. b5zqr."}],"container-title":["eLife"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/cdn.elifesciences.org\/articles\/107170\/elife-107170-v1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/cdn.elifesciences.org\/articles\/107170\/elife-107170-v1.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/elifesciences.org\/articles\/107170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:55:45Z","timestamp":1790067345000},"score":1,"resource":{"primary":{"URL":"https:\/\/elifesciences.org\/articles\/107170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,22]]},"references-count":123,"alternative-id":["10.7554\/eLife.107170"],"URL":"https:\/\/doi.org\/10.7554\/elife.107170","archive":["CLOCKSS"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2025.04.27.650822","asserted-by":"subject"}],"is-same-as":[{"id-type":"doi","id":"10.7554\/eLife.107170.3","asserted-by":"subject"}],"is-version-of":[{"id-type":"doi","id":"10.7554\/eLife.107170.1","asserted-by":"subject"},{"id-type":"doi","id":"10.7554\/eLife.107170.2","asserted-by":"subject"}],"is-financed-by":[{"id-type":"doi","id":"10.35802\/110061","asserted-by":"subject"},{"id-type":"doi","id":"10.35802\/110061","asserted-by":"object"}],"is-supplemented-by":[{"id-type":"doi","id":"10.6019\/PXD074604","asserted-by":"subject"},{"id-type":"accession","id":"b5zqr","asserted-by":"subject"}]},"ISSN":["2050-084X"],"issn-type":[{"value":"2050-084X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,22]]},"assertion":[{"value":"single anonymised","name":"peer_review_transparency","label":"Peer review transparency","group":{"name":"peer_review_taxonomy"}},{"value":"other reviewer(s), editor","name":"peer_review_interaction","label":"Peer review interaction","group":{"name":"peer_review_taxonomy"}},{"value":"review summaries, review reports, author\/editor communication, reviewer identities reviewer opt in, editor identities","name":"peer_review_published","label":"Peer review published","group":{"name":"peer_review_taxonomy"}},{"value":"open (sign in with ORCID iD required)","name":"post_publication_commenting","label":"Post publication commenting","group":{"name":"post_publication_commenting"}}],"article-number":"RP107170"}}