{"data":{"id":"10.6084/m9.figshare.1342776.v1","type":"dois","attributes":{"doi":"10.6084/m9.figshare.1342776.v1","prefix":"10.6084","suffix":"m9.figshare.1342776.v1","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Braat, Sien","givenName":"Sien","familyName":"Braat","affiliation":[],"nameIdentifiers":[]},{"name":"D'Hulst, Charlotte","givenName":"Charlotte","familyName":"D'Hulst","affiliation":[],"nameIdentifiers":[]},{"name":"Heulens, Inge","givenName":"Inge","familyName":"Heulens","affiliation":[],"nameIdentifiers":[]},{"name":"Rubeis, Silvia De","givenName":"Silvia De","familyName":"Rubeis","affiliation":[],"nameIdentifiers":[]},{"name":"Mientjes, Edwin","givenName":"Edwin","familyName":"Mientjes","affiliation":[],"nameIdentifiers":[]},{"name":"L Nelson, David","givenName":"David","familyName":"L Nelson","affiliation":[],"nameIdentifiers":[]},{"name":"Willemsen, Rob","givenName":"Rob","familyName":"Willemsen","affiliation":[],"nameIdentifiers":[]},{"name":"Bagni, Claudia","givenName":"Claudia","familyName":"Bagni","affiliation":[],"nameIdentifiers":[]},{"name":"Van Dam, Debby","givenName":"Debby","familyName":"Van Dam","affiliation":[],"nameIdentifiers":[]},{"name":"Frank Kooy, R","givenName":"R","familyName":"Frank Kooy","affiliation":[],"nameIdentifiers":[]},{"name":"P De Deyn, Peter","givenName":"Peter","familyName":"P De Deyn","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"The GABA\u003csub\u003eA\u003c/sub\u003e Receptor is an FMRP Target with Therapeutic Potential in Fragile X Syndrome"}],"publisher":"Taylor \u0026 Francis","container":{},"publicationYear":2015,"subjects":[{"subject":"Infectious Diseases"},{"subject":"FOS: Health sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Science Policy"},{"subject":"Biological Sciences"},{"subject":"Chemistry"},{"subject":"Biotechnology"},{"subject":"Neuroscience"},{"subject":"Molecular Biology"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Cell Biology"},{"subject":"Biochemistry"}],"contributors":[],"dates":[{"date":"2015-09-17","dateType":"Created"},{"date":"2026-02-17","dateType":"Updated"},{"date":"2015","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsPreviousVersionOf","relatedIdentifier":"10.6084/m9.figshare.1342776","relatedIdentifierType":"DOI"},{"relationType":"IsSupplementTo","relatedIdentifier":"10.4161/15384101.2014.989114","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":["1197756 Bytes"],"formats":[],"version":"1","rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"ABSTRACTPrevious research indicates that the GABA\u003csub\u003eA\u003c/sub\u003eergic system is involved in the pathophysiology of the fragile X syndrome, a frequent form of inherited intellectual disability and associated with autism spectrum disorder. However, the molecular mechanism underlying GABA\u003csub\u003eA\u003c/sub\u003eergic deficits has remained largely unknown. Here, we demonstrate reduced mRNA expression of GABA\u003csub\u003eA\u003c/sub\u003e receptor subunits in the cortex and cerebellum of young \u003ci\u003eFmr1\u003c/i\u003e knockout mice. In addition, we show that the previously reported underexpression of specific subunits of the GABA\u003csub\u003eA\u003c/sub\u003e receptor can be corrected in YAC transgenic rescue mice, containing the full-length human \u003ci\u003eFMR1\u003c/i\u003e gene in an \u003ci\u003eFmr1\u003c/i\u003e knockout background. Moreover, we demonstrate that FMRP directly binds several GABA\u003csub\u003eA\u003c/sub\u003e receptor mRNAs. Finally, positive allosteric modulation of GABA\u003csub\u003eA\u003c/sub\u003e receptors with the neurosteroid ganaxolone can modulate specific behaviours in \u003ci\u003eFmr1\u003c/i\u003e knockout mice, emphasizing the therapeutic potential of the receptor.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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