{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T03:04:15Z","timestamp":1790219055706,"version":"4.1.0"},"reference-count":108,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Wellcome Sanger Institute","award":["206194"],"award-info":[{"award-number":["206194"]}]},{"name":"Wellcome Sanger Institute","award":["108413\/A\/15\/D"],"award-info":[{"award-number":["108413\/A\/15\/D"]}]},{"DOI":"10.13039\/501100001673","name":"Jer\u00f4me Lejeune Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001673","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"National Institute of Health and Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Javits","award":["R37-NS125632"],"award-info":[{"award-number":["R37-NS125632"]}]},{"DOI":"10.13039\/100016187","name":"Newlife Foundation","doi-asserted-by":"publisher","award":["16-17\/12"],"award-info":[{"award-number":["16-17\/12"]}],"id":[{"id":"10.13039\/100016187","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Trust and Medical Research Council"},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Trust Clinical Research Facility"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-related disorder, we analysed mouse knockout and human stem cell KPTN loss-of-function models.<\/jats:p>\n               <jats:p>Kptn \u2212\/\u2212 mice display many of the key KPTN-related disorder phenotypes, including brain overgrowth, behavioural abnormalities, and cognitive deficits. By assessment of affected individuals, we have identified widespread cognitive deficits (n = 6) and postnatal onset of brain overgrowth (n = 19). By analysing head size data from their parents (n = 24), we have identified a previously unrecognized KPTN dosage-sensitivity, resulting in increased head circumference in heterozygous carriers of pathogenic KPTN variants.<\/jats:p>\n               <jats:p>Molecular and structural analysis of Kptn\u2212\/\u2212 mice revealed pathological changes, including differences in brain size, shape and cell numbers primarily due to abnormal postnatal brain development. Both the mouse and differentiated induced pluripotent stem cell models of the disorder display transcriptional and biochemical evidence for altered mTOR pathway signalling, supporting the role of KPTN in regulating mTORC1.<\/jats:p>\n               <jats:p>By treatment in our KPTN mouse model, we found that the increased mTOR signalling downstream of KPTN is rapamycin sensitive, highlighting possible therapeutic avenues with currently available mTOR inhibitors. These findings place KPTN-related disorder in the broader group of mTORC1-related disorders affecting brain structure, cognitive function and network integrity.<\/jats:p>","DOI":"10.1093\/brain\/awad231","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T19:53:56Z","timestamp":1689191636000},"page":"4766-4783","source":"Crossref","is-referenced-by-count":12,"title":["Models of <i>KPTN<\/i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes"],"prefix":"10.1093","volume":"146","author":[{"given":"Maria O","family":"Levitin","sequence":"first","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton, Cambridge CB10 1SA , UK"},{"name":"Evox Therapeutics Limited , Oxford OX4 4HG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6764-253X","authenticated-orcid":false,"given":"Lettie 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J","family":"Sawiak","sequence":"additional","affiliation":[{"name":"Behavioural and Clinical Neuroscience Institute, University of Cambridge , Cambridge CB2 3EB , UK"},{"name":"Wolfson Brain Imaging Centre, Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0QQ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"II","given":"Phillip H","family":"Iffland","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Maryland School of Medicine , Baltimore, MD 21201 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malin H L","family":"Andersson","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton, Cambridge CB10 1SA , 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