{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T05:49:51Z","timestamp":1787636991278,"version":"build-2736575974"},"update-to":[{"DOI":"10.1371\/journal.pgen.1012158","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T00:00:00Z","timestamp":1779840000000}}],"reference-count":51,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016749","name":"UC Davis Center for Equine Health","doi-asserted-by":"publisher","award":["24-08"],"award-info":[{"award-number":["24-08"]}],"id":[{"id":"10.13039\/100016749","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of California Davis Veterinary Genetics Laboratory","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:p>\n                    Equine Juvenile Spinocerebellar Ataxia (EJSCA) is a novel autosomal recessive neurologic disease in Quarter Horses. Affected foals display a progressive proprioceptive ataxia by 1\u20135 weeks of age, leading to recumbency and necessitating euthanasia. Whole genome sequencing was performed on 7 EJSCA cases and unaffected horses that included 4 obligate carriers, 4 unaffected half or full-siblings, and 28 unrelated, unaffected control Quarter Horses. An 82 kb region of association was identified (EquCab3.0, chr11: 6963986\u20137045999), containing 9 candidate SNPs across four genes (\n                    <jats:italic>FADS6, FDXR, GRIN2C<\/jats:italic>\n                    and\n                    <jats:italic>TMEM104<\/jats:italic>\n                    ). Decreased\n                    <jats:italic>FDXR<\/jats:italic>\n                    mRNA expression and a cryptic exon was identified in spinal cord tissue from EJSCA cases via RNA-sequencing. One of the 9 associated SNPs (\n                    <jats:italic>FDXR-203<\/jats:italic>\n                    c.177\u2009+\u20091778G\u2009&gt;\u2009C) was the eighth base pair of this cryptic exon. Affected foals were all homozygous for the variant. Protein concentrations of FDXR were lower in EJSCA cases in spinal cord and liver compared to unaffected controls. The\n                    <jats:italic>FDXR-203<\/jats:italic>\n                    c.177\u2009+\u20091778G\u2009&gt;\u2009C mutation represents the first non-coding neurological genetic variant in horses. Additionally, this is the first genetic cause of a degenerative axonopathy in the horse and a spontaneous disease model to study FDXR pathology in humans.\n                  <\/jats:p>","DOI":"10.1371\/journal.pgen.1012158","type":"journal-article","created":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T17:46:46Z","timestamp":1779299206000},"page":"e1012158","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":1,"title":["An intronic variant in Ferredoxin Reductase (FDXR) creates a cryptic exon in Quarter Horses with Equine Juvenile Spinocerebellar Ataxia"],"prefix":"10.1371","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-2774-071X","authenticated-orcid":true,"given":"Briana N.","family":"Brown","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3571-5041","authenticated-orcid":true,"given":"Anna R.","family":"Dahlgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharmila","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3961-4136","authenticated-orcid":true,"given":"Blythe","family":"Durbin-Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4531-4770","authenticated-orcid":true,"given":"Andrew","family":"Willis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2876-2897","authenticated-orcid":true,"given":"Cassandra","family":"Olivas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-2894","authenticated-orcid":true,"given":"Daniel","family":"York","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Grahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca R.","family":"Bellone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gino A.","family":"Cortopassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew D.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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