{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:46:08Z","timestamp":1771472768680,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T00:00:00Z","timestamp":1390953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biotin\u2010thiamine\u2010responsive basal ganglia disease (<jats:styled-content style=\"fixed-case\">BTBGD<\/jats:styled-content>) is a potentially treatable disorder caused by mutations in the <jats:styled-content style=\"fixed-case\"><jats:italic>SLC19A3<\/jats:italic><\/jats:styled-content> gene, encoding the human thiamine transporter 2. Manifestation of <jats:styled-content style=\"fixed-case\">BTBGD<\/jats:styled-content> as acute encephalopathy triggered by a febrile infection has been frequently reported, but the underlying mechanisms are not clear. We investigated a family with two brothers being compound heterozygous for the <jats:styled-content style=\"fixed-case\"><jats:italic>SLC19A3<\/jats:italic><\/jats:styled-content> mutations <jats:styled-content style=\"fixed-case\">p.W94R<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">p.Q393*fs<\/jats:styled-content>. Post\u2010mortem analysis of the brain of one brother showed a mixture of acute, subacute and chronic changes with cystic and necrotic lesions and hemorrhage in the putamen, and hemorrhagic lesions in the caudate nucleus and cortical layers. <jats:styled-content style=\"fixed-case\"><jats:italic>SLC19A3<\/jats:italic><\/jats:styled-content> expression was substantially reduced in the cortex, basal ganglia and cerebellum compared with an age\u2010matched control. Importantly, exposure of fibroblasts to stress factors such as acidosis or hypoxia markedly upregulated <jats:styled-content style=\"fixed-case\"><jats:italic>SLC19A3<\/jats:italic><\/jats:styled-content> in control cells, but failed to elevate <jats:styled-content style=\"fixed-case\"><jats:italic>SLC19A3<\/jats:italic><\/jats:styled-content> expression in the patient's fibroblasts. These results demonstrate ubiquitously reduced thiamine transporter function in the cerebral gray matter, and neuropathological alterations similar to <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>ernicke's disease in <jats:styled-content style=\"fixed-case\">BTBGD<\/jats:styled-content>. They also suggest that episodes of encephalopathy are caused by a substantially reduced capacity of mutant neuronal cells to increase <jats:styled-content style=\"fixed-case\"><jats:italic>SLC19A3<\/jats:italic><\/jats:styled-content> expression, necessary to adapt to stress conditions.<\/jats:p>","DOI":"10.1111\/bpa.12117","type":"journal-article","created":{"date-parts":[[2013,12,23]],"date-time":"2013-12-23T07:50:44Z","timestamp":1387785044000},"page":"270-279","source":"Crossref","is-referenced-by-count":37,"title":["Stress\u2010Induced Upregulation of <scp>SLC19A3<\/scp> is Impaired in Biotin\u2010Thiamine\u2010Responsive Basal Ganglia Disease"],"prefix":"10.1111","volume":"24","author":[{"given":"Anne","family":"Sch\u00e4nzer","sequence":"first","affiliation":[{"name":"Institute of Neuropathology Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"D\u00f6ring","sequence":"additional","affiliation":[{"name":"Institute of Pharmacology and Toxicology Biomedical Research Center Seltersberg Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Ondrouschek","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Goos","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyan K.","family":"Garvalov","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joachim","family":"Geyer","sequence":"additional","affiliation":[{"name":"Institute of Pharmacology and Toxicology Biomedical Research Center Seltersberg Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Till","family":"Acker","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Neubauer","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Justus\u2010Liebig\u2010University  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20108\u201383"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.293"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-008-0904-z"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1385\/MN:31:1-3:017"},{"key":"e_1_2_6_6_1","first-page":"150","volume-title":"Neuropathology. 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