{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:10:14Z","timestamp":1788307814640,"version":"build-2803163510"},"reference-count":28,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T00:00:00Z","timestamp":1362355200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0057195","type":"journal-article","created":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T07:16:28Z","timestamp":1362467788000},"page":"e57195","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":41,"title":["Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy"],"prefix":"10.1371","volume":"8","author":[{"given":"Karen M.","family":"Vernau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Runstadler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily A.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessie M.","family":"Cameron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather J.","family":"Huson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron","family":"Ackerley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly K.","family":"Sturges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Dickinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Puschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Giulivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Diane","family":"Shelton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian H.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew W.","family":"Bollen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danika L.","family":"Bannasch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2013,3,4]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/j.1748-5827.1999.tb03028.x","article-title":"Subacute necrotising encephalopathy in an Alaskan husky","volume":"40","author":"JJ Wakshlag","year":"1999","journal-title":"J Small Anim Pract"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1007\/s004010051192","article-title":"Alaskan Husky encephalopathy \u2013 a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome)","volume":"100","author":"O Brenner","year":"2000","journal-title":"Acta Neuropathol (Berl)"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s00401-009-0548-6","article-title":"Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA","volume":"118","author":"K Baiker","year":"2009","journal-title":"Acta Neuropathol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.pediatrneurol.2008.07.013","article-title":"Leigh and Leigh-like syndrome in children and adults","volume":"39","author":"J Finsterer","year":"2008","journal-title":"Pediatr Neurol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1093\/brain\/121.7.1267","article-title":"Biotin-responsive basal ganglia disease: a novel entity","volume":"7)","author":"PT Ozand","year":"1998","journal-title":"Brain 121 ( Pt"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1056\/NEJMc0809100","article-title":"Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy","volume":"360","author":"S Kono","year":"2009","journal-title":"N Engl J Med"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.2460\/ajvr.1986.47.10.2281","article-title":"Experimentally induced thiamine deficiency in beagle dogs: pathologic changes of the central nervous system","volume":"47","author":"DH Read","year":"1986","journal-title":"Am J Vet Res"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1111\/j.1939-1676.2003.tb02477.x","article-title":"L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers","volume":"17","author":"CJ Abramson","year":"2003","journal-title":"J Vet Intern Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1186\/1471-2350-11-171","article-title":"A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations","volume":"11","author":"K Yamada","year":"2010","journal-title":"BMC Med Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s00424-003-1068-1","article-title":"SLC19: the folate\/thiamine transporter family","volume":"447","author":"V Ganapathy","year":"2004","journal-title":"Pflugers Arch"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1093\/genetics\/151.4.1531","article-title":"Preservation of duplicate genes by complementary, degenerative mutations","volume":"151","author":"A Force","year":"1999","journal-title":"Genetics"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1006\/mgme.2000.3112","article-title":"Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes","volume":"71","author":"JD Eudy","year":"2000","journal-title":"Mol Genet Metab"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s11547-011-0618-x","article-title":"CT and MRI of Wernicke's encephalopathy","volume":"116","author":"A Cerase","year":"2011","journal-title":"Radiol Med"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1111\/j.1751-0813.1997.tb12252.x","article-title":"Thiamine deficiency in a cat associated with the preservation of 'pet meat' with sulphur dioxide","volume":"75","author":"RJ Steel","year":"1997","journal-title":"Aust Vet J"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.cbi.2006.04.014","article-title":"Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism","volume":"163","author":"F Depeint","year":"2006","journal-title":"Chem Biol Interact"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.cbi.2006.05.010","article-title":"Mitochondrial function and toxicity: role of B vitamins on the one-carbon transfer pathways","volume":"163","author":"F Depeint","year":"2006","journal-title":"Chem Biol Interact"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1086\/431216","article-title":"Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3","volume":"77","author":"WQ Zeng","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1001\/archneurol.2009.293","article-title":"Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations","volume":"67","author":"R Debs","year":"2010","journal-title":"Arch Neurol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"C851","DOI":"10.1152\/ajpcell.00105.2006","article-title":"Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2","volume":"291","author":"VS Subramanian","year":"2006","journal-title":"Am J Physiol Cell Physiol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1203\/00006450-199011000-00027","article-title":"The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia","volume":"28","author":"BH Robinson","year":"1990","journal-title":"Pediatr Res"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/0014-5793(88)80293-X","article-title":"Characterization of cytochrome-c oxidase mutants in human fibroblasts","volume":"236","author":"DM Glerum","year":"1988","journal-title":"FEBS Lett"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1007\/BF00441651","article-title":"Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH","volume":"140","author":"BH Robinson","year":"1983","journal-title":"Eur J Pediatr"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"4101","DOI":"10.1210\/jc.2005-0123","article-title":"Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation","volume":"90","author":"MC Maj","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"88","DOI":"10.2460\/ajvr.1999.60.01.88","article-title":"Changes in rectal temperature and hematologic, biochemical, blood gas, and acid-base values in healthy Labrador Retrievers before and after strenuous exercise","volume":"60","author":"CL Matwichuk","year":"1999","journal-title":"Am J Vet Res"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Dubowitz V, Sewry CA (2007) Histological and Histochemical Stains and Reactions. Muscle Biopsy: A Practical Approach. 3rd ed: Elsevier. 21\u201340.","DOI":"10.1016\/B978-1-4160-2593-1.50007-3"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1042\/BJ20080847","article-title":"Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria","volume":"416","author":"F Xu","year":"2008","journal-title":"Biochem J"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"S Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref28","first-page":"1320","article-title":"Increased throughput for fragment analysis on an ABI PRISM 377 automated sequencer using a membrane comb and STRand software","volume":"31","author":"RJ Toonen","year":"2001","journal-title":"Biotechniques"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0057195","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T22:58:33Z","timestamp":1745967513000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0057195"}},"subtitle":[],"editor":[{"given":"Gerard Roel","family":"Rutteman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2013,3,4]]},"references-count":28,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2013,3,4]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0057195","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,4]]}}}