{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:25:53Z","timestamp":1790879153916,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,4,10]],"date-time":"2006-04-10T00:00:00Z","timestamp":1144627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Spinal muscular atrophy results from loss of the survival motor neuron 1 (<jats:italic>SMN1<\/jats:italic>) gene and malfunction of the remaining <jats:italic>SMN2<\/jats:italic>. We investigated whether valproic acid can elevate human <jats:italic>SMN<\/jats:italic> expression in vivo.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Blood was collected from 10 spinal muscular atrophy carriers and 20 spinal muscular atrophy patients treated with valproic acid.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven of 10 carriers demonstrated increased <jats:italic>SMN<\/jats:italic> messenger RNA and protein levels. <jats:italic>SMN2<\/jats:italic> messenger RNA levels were elevated in 7 patients and unchanged or decreased in 13 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>We provide first proof of the in vivo activation of a causative gene by valproic acid in an inherited disease and discuss strategies of monitoring drug response in patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.20836","type":"journal-article","created":{"date-parts":[[2006,4,10]],"date-time":"2006-04-10T18:19:45Z","timestamp":1144693185000},"page":"970-975","source":"Crossref","is-referenced-by-count":123,"title":["In vivo activation of <i>SMN<\/i> in spinal muscular atrophy carriers and patients treated with valproate"],"prefix":"10.1002","volume":"59","author":[{"given":"Lars","family":"Brichta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irmgard","family":"Holker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"Haug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klockgether","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,4,10]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.6.409"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6307"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/498853"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-63"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2001.00647.x"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10743"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201102"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.171105098"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1677\/jme.0.0250169"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbiotec.2004.07.001"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.2144\/04371RR03"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-1759(03)00072-3"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi078"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/64.3.215"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2005.025"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.20094"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201320"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20836","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20836","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T03:30:38Z","timestamp":1697513438000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20836"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4,10]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["10.1002\/ana.20836"],"URL":"https:\/\/doi.org\/10.1002\/ana.20836","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4,10]]}}}