{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T05:47:37Z","timestamp":1778564857916,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,12,9]],"date-time":"2004-12-09T00:00:00Z","timestamp":1102550400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2005,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A single GAG deletion in the <jats:italic>DYT1<\/jats:italic> gene causes primary early\u2010onset, generalized torsion dystonia. The <jats:italic>DYT1<\/jats:italic> protein product, torsinA, belongs to the AAA+ family of proteins. When overexpressed, wild\u2010type torsinA localizes mainly to the endoplasmic reticulum, whereas the mutant forms inclusions of unclear biogenetic origin. In this study, overexpressed wild\u2010type torsinA in human neuroblastoma (SH\u2010SY5Y) cell lines was distributed throughout the cell body and colocalized with a marker for the endoplasmic reticulum, confirming it is an endoplasmic reticulum protein. However, mutant torsinA showed perinuclear staining and formed distinct globular inclusions, which did not colocalize with endoplasmic reticulum markers. Immunoelectron microscopy of the mutant torsinA inclusions revealed membrane whorls staining for torsinA, as well as labeling of lamellae, isolated bilayers, and perinuclear membranes. This finding shows that mutant torsinA redistributes to specific membranous structures, which may represent different stages of maturation of the intracellular inclusions. The mutant torsinA\u2010containing bodies were immunoreactive for vesicular monoamine transporter 2 (VMAT2). VMAT2 expression is important for the exocytosis of bioactive monoamines in neurons. Abnormal processing, transport, or entrapment of VMAT2 within the mutant torsinA membranous inclusions, therefore, may affect cellular dopamine release, providing a potential pathogenic mechanism for the DYT1\u2010dependent dystonia. \u00a9 2004 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20351","type":"journal-article","created":{"date-parts":[[2004,12,9]],"date-time":"2004-12-09T20:16:32Z","timestamp":1102623392000},"page":"432-440","source":"Crossref","is-referenced-by-count":43,"title":["Mutant torsinA, which causes early\u2010onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH\u2010SY5Y cells"],"prefix":"10.1002","volume":"20","author":[{"given":"Anjum","family":"Misbahuddin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark R.","family":"Placzek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan\u2010Willem","family":"Taanman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Gschmeissner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampietro","family":"Schiavo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Mark","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas T.","family":"Warner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,12,9]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-40"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440119"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.12.2335"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100480100111"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00350-6"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-440X(02)00388-3"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M910025199"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj20030258"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2002.01190.x"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg027"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M401332200"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1403"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0304375101"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.1.120"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200306020"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(199909)14:5<709::AID-MDS1001>3.0.CO;2-T"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.12.1335"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.5.1432"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430518"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0969-9961(02)00010-4"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198608073150602"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.5.1193"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.3.445"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-19-07297.2000"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-813X(02)00037-2"},{"issue":"9","key":"e_1_2_7_27_2","first-page":"S112","article-title":"Neuropathology in DYT1\/torsinA\u2010linked dystonia","volume":"19","author":"Olanow CW","year":"2004","journal-title":"Mov Disord"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308088101"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20351","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20351","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.20351","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20351","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:43:30Z","timestamp":1760964210000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20351"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,9]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1002\/mds.20351"],"URL":"https:\/\/doi.org\/10.1002\/mds.20351","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,9]]}}}