{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:51:05Z","timestamp":1790729465124,"version":"4.1.0"},"reference-count":78,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T00:00:00Z","timestamp":1673222400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R37 NS033123"],"award-info":[{"award-number":["R37 NS033123"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R21 NS079852"],"award-info":[{"award-number":["R21 NS079852"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R21 NS104799"],"award-info":[{"award-number":["R21 NS104799"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"RTW Charitable Foundation"},{"name":"National Ataxia Foundation Postdoctoral Fellowship"},{"name":"National Ataxia Foundation Junior Investigator Award"},{"name":"Harrington Discovery Institute Rare Disease Scholar Award"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The shaker rat carries a naturally occurring mutation leading to progressive ataxia characterized by Purkinje cell (PC) loss. We previously reported on fine-mapping the shaker locus to the long arm of the rat X chromosome. In this work, we sought to identify the mutated gene underlying the shaker phenotype and confirm its identity by functional complementation. We fine-mapped the candidate region and analyzed cerebellar transcriptomes, identifying a XM_217630.9 (Slc9a6):c.[191_195delinsA] variant in the Slc9a6 gene that segregated with disease. We generated an adeno-associated virus (AAV) targeting Slc9a6 expression to PCs using the mouse L7\u20136 (L7) promoter. We administered the AAV prior to the onset of PC degeneration through intracerebroventricular injection and found that it reduced the shaker motor, molecular and cellular phenotypes. Therefore, Slc9a6 is mutated in shaker and AAV-based gene therapy may be a viable therapeutic strategy for Christianson syndrome, also caused by Slc9a6 mutation.<\/jats:p>","DOI":"10.1093\/hmg\/ddad004","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T07:44:52Z","timestamp":1673250292000},"page":"1647-1659","source":"Crossref","is-referenced-by-count":10,"title":["Slc9a6 mutation causes Purkinje cell loss and ataxia in the\n                    <i>shaker<\/i>\n                    rat"],"prefix":"10.1093","volume":"32","author":[{"given":"Karla P","family":"Figueroa","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Utah , Salt Lake City, UT 84132 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6085-7773","authenticated-orcid":false,"given":"Collin J","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Utah , Salt Lake City, UT 84132 , USA"},{"name":"School of Medical Sciences, University of Sydney , Camperdown NSW 2006 , Australia"},{"name":"School of Biomedical Engineering University of Sydney , Darlington NSW 2008 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharan","family":"Paul","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Utah , Salt Lake City, UT 84132 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warunee","family":"Dansithong","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Utah , Salt Lake City, UT 84132 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandi","family":"Gandelman","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Utah , Salt Lake City, UT 84132 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel R","family":"Scoles","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Utah , Salt Lake City, UT 84132 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan M","family":"Pulst","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Utah , Salt Lake City, UT 84132 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,1,9]]},"reference":[{"key":"2023050516322513000_ref1","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/0092-8674(95)90273-2","article-title":"SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat","volume":"82","author":"Burright","year":"1995","journal-title":"Cell"},{"key":"2023050516322513000_ref2","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/79162","article-title":"Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human","volume":"26","author":"Huynh","year":"2000","journal-title":"Nat. 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