{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T06:18:00Z","timestamp":1781763480190,"version":"3.54.5"},"reference-count":23,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2016,2,10]],"date-time":"2016-02-10T00:00:00Z","timestamp":1455062400000},"content-version":"vor","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.0149055","type":"journal-article","created":{"date-parts":[[2016,2,10]],"date-time":"2016-02-10T19:13:46Z","timestamp":1455131626000},"page":"e0149055","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy"],"prefix":"10.1371","volume":"11","author":[{"given":"Irene","family":"Fl\u00f8nes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawe\u0142","family":"Sztromwasser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristoffer","family":"Haugarvoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"D\u00f6lle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Lykouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schwarzlm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge","family":"Jonassen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hrvoje","family":"Miletic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per M.","family":"Knappskog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence A.","family":"Bindoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalampos","family":"Tzoulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2016,2,10]]},"reference":[{"issue":"5","key":"ref1","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":"American journal of physiology Cell physiology"},{"issue":"Pt 7","key":"ref2","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":"121","author":"PT Ozand","year":"1998","journal-title":"Brain: a journal of neurology"},{"issue":"5","key":"ref3","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ejpn.2015.05.008","article-title":"Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone","volume":"19","author":"B Tabarki","year":"2015","journal-title":"European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society"},{"key":"ref4","unstructured":"Tabarki B, Al-Hashem A, Alfadhel M. Biotin-Thiamine-Responsive Basal Ganglia Disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA)1993."},{"issue":"1","key":"ref5","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":"American journal of human genetics"},{"key":"ref6","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 medical genetics"},{"issue":"17","key":"ref7","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1056\/NEJMc0809100","article-title":"Mutations in a thiamine-transporter gene and Wernicke&apos;s-like encephalopathy","volume":"360","author":"S Kono","year":"2009","journal-title":"The New England journal of medicine"},{"issue":"1","key":"ref8","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":"Archives of neurology"},{"key":"ref9","article-title":"Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome","author":"JD Ortigoza-Escobar","year":"2015","journal-title":"Brain: a journal of neurology"},{"issue":"3","key":"ref10","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.neuint.2010.11.019","article-title":"Modeling neurodegenerative disease pathophysiology in thiamine deficiency: consequences of impaired oxidative metabolism","volume":"58","author":"SS Jhala","year":"2011","journal-title":"Neurochemistry international"},{"issue":"Pt 5","key":"ref11","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1093\/brain\/awt054","article-title":"Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy","volume":"136","author":"SH Kevelam","year":"2013","journal-title":"Brain: a journal of neurology"},{"issue":"6","key":"ref12","doi-asserted-by":"crossref","first-page":"e66145","DOI":"10.1371\/journal.pone.0066145","article-title":"Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"8","author":"C Tzoulis","year":"2013","journal-title":"PloS one"},{"issue":"8","key":"ref13","doi-asserted-by":"crossref","first-page":"1822","DOI":"10.1007\/s00415-015-7772-x","article-title":"Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia","volume":"262","author":"MJ Keogh","year":"2015","journal-title":"Journal of neurology"},{"issue":"Pt 2","key":"ref14","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1093\/brain\/awu348","article-title":"Exome sequencing in undiagnosed inherited and sporadic ataxias","volume":"138","author":"A Pyle","year":"2015","journal-title":"Brain: a journal of neurology"},{"issue":"5","key":"ref15","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"H Li","year":"2010","journal-title":"Bioinformatics"},{"issue":"9","key":"ref16","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome research"},{"issue":"5","key":"ref17","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"MA DePristo","year":"2011","journal-title":"Nature genetics"},{"issue":"1110","key":"ref18","doi-asserted-by":"crossref","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"11","author":"GA Van der Auwera","year":"2013","journal-title":"Current protocols in bioinformatics"},{"issue":"16","key":"ref19","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"K Wang","year":"2010","journal-title":"Nucleic acids research"},{"issue":"7422","key":"ref20","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"GR Abecasis","year":"2012","journal-title":"Nature"},{"issue":"1","key":"ref21","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"JT Robinson","year":"2011","journal-title":"Nature biotechnology"},{"issue":"6220","key":"ref22","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Proteomics. Tissue-based map of the human proteome","volume":"347","author":"M Uhlen","year":"2015","journal-title":"Science"},{"issue":"4","key":"ref23","doi-asserted-by":"crossref","first-page":"G822","DOI":"10.1152\/ajpgi.00234.2004","article-title":"Characterization of the 5&apos;-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies","volume":"287","author":"SM Nabokina","year":"2004","journal-title":"American journal of physiology Gastrointestinal and liver physiology"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0149055","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T03:28:19Z","timestamp":1540265299000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0149055"}},"subtitle":[],"editor":[{"given":"Andreas R.","family":"Janecke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2016,2,10]]},"references-count":23,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,2,10]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0149055","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,10]]}}}