{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T07:30:46Z","timestamp":1790839846407,"version":"4.1.0"},"reference-count":230,"publisher":"The Company of Biologists","issue":"2","license":[{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007660","name":"Universiteit Antwerpen","doi-asserted-by":"crossref","award":["GENOMED"],"award-info":[{"award-number":["GENOMED"]}],"id":[{"id":"10.13039\/501100007660","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000297","name":"FRAXA Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000297","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>The fragile X-related disorders are an important group of hereditary disorders that are caused by expanded CGG repeats in the 5\u2032 untranslated region of the FMR1 gene or by mutations in the coding sequence of this gene. Two categories of pathological CGG repeats are associated with these disorders, full mutation alleles and shorter premutation alleles. Individuals with full mutation alleles develop fragile X syndrome, which causes autism and intellectual disability, whereas those with premutation alleles, which have shorter CGG expansions, can develop fragile X-associated tremor\/ataxia syndrome, a progressive neurodegenerative disease. Thus, fragile X-related disorders can manifest as neurodegenerative or neurodevelopmental disorders, depending on the size of the repeat expansion. Here, we review mouse models of fragile X-related disorders and discuss how they have informed our understanding of neurodegenerative and neurodevelopmental disorders. We also assess the translational value of these models for developing rational targeted therapies for intellectual disability and autism disorders.<\/jats:p>","DOI":"10.1242\/dmm.049485","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T09:27:30Z","timestamp":1674552450000},"source":"Crossref","is-referenced-by-count":30,"title":["Mouse models of fragile X-related disorders"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0443-619X","authenticated-orcid":false,"given":"Rob","family":"Willemsen","sequence":"first","affiliation":[{"name":"Erasmus University Medical Center Department of Clinical Genetics , , 3015 CN Rotterdam , the Netherlands . Department of Medical Genetics , , 2000 Antwerp , Belgium"},{"name":"University of Antwerp Department of Clinical Genetics , , 3015 CN Rotterdam , the Netherlands . Department of Medical Genetics , , 2000 Antwerp , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2024-0485","authenticated-orcid":false,"given":"R. Frank","family":"Kooy","sequence":"additional","affiliation":[{"name":"Erasmus University Medical Center Department of Clinical Genetics , , 3015 CN Rotterdam , the Netherlands . Department of Medical Genetics , , 2000 Antwerp , Belgium"},{"name":"University of Antwerp Department of Clinical Genetics , , 3015 CN Rotterdam , the Netherlands . Department of Medical Genetics , , 2000 Antwerp , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"key":"2023012414271742500_DMM049485C1","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4&lt;322::AID-AJMG17&gt;3.0.CO;2-B","article-title":"Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data","volume":"83","author":"Allingham-Hawkins","year":"1999","journal-title":"Am. J. Med. 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