{"id":"https://openalex.org/W89872206","doi":null,"title":"USING ZEBRAFISH AS A MODEL SYSTEM FOR DYT1 DYSTONIA","display_name":"USING ZEBRAFISH AS A MODEL SYSTEM FOR DYT1 DYSTONIA","publication_year":2012,"publication_date":"2012-08-25","ids":{"openalex":"https://openalex.org/W89872206","mag":"89872206"},"language":"en","primary_location":{"id":"pmh:oai:d-scholarship.pitt.edu:13637","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/13637/1/Sager-ETD-2012.pdf","pdf_url":"http://d-scholarship.pitt.edu/13637/1/Sager-ETD-2012.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://d-scholarship.pitt.edu/13637/1/Sager-ETD-2012.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088003606","display_name":"Jonathan J. Sager","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Jonathan Sager","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5088003606"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00903648,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.9047999978065491,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.9047999978065491,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11685","display_name":"Zebrafish Biomedical Research Applications","score":0.05420000106096268,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.004800000227987766,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dyt1-dystonia","display_name":"DYT1 dystonia","score":0.9919999837875366},{"id":"https://openalex.org/keywords/torsina","display_name":"torsinA","score":0.8889999985694885},{"id":"https://openalex.org/keywords/tor1a","display_name":"TOR1A","score":0.8029999732971191},{"id":"https://openalex.org/keywords/zebrafish-model","display_name":"zebrafish model","score":0.828000009059906},{"id":"https://openalex.org/keywords/dominant-negative-mutation","display_name":"dominant negative mutation","score":0.6380000114440918},{"id":"https://openalex.org/keywords/transgenic-zebrafish","display_name":"transgenic zebrafish","score":0.8309999704360962},{"id":"https://openalex.org/keywords/central-nervous-system-neurons","display_name":"central nervous system neurons","score":0.5009999871253967},{"id":"https://openalex.org/keywords/drug-discovery","display_name":"drug discovery","score":0.5910000205039978},{"id":"https://openalex.org/keywords/gene-duplication","display_name":"gene duplication","score":0.3499999940395355},{"id":"https://openalex.org/keywords/tetrapod-evolution","display_name":"tetrapod evolution","score":0.492000013589859}],"concepts":[{"id":"https://openalex.org/C2776878037","wikidata":"https://www.wikidata.org/wiki/Q169444","display_name":"Zebrafish","level":3,"score":0.9231149554252625},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.8617229461669922},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6984734535217285},{"id":"https://openalex.org/C173396325","wikidata":"https://www.wikidata.org/wiki/Q1501275","display_name":"Gene knockdown","level":3,"score":0.6484989523887634},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5876224040985107},{"id":"https://openalex.org/C158617107","wikidata":"https://www.wikidata.org/wiki/Q79927","display_name":"Endoplasmic reticulum","level":2,"score":0.5565972924232483},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5314145684242249},{"id":"https://openalex.org/C53345823","wikidata":"https://www.wikidata.org/wiki/Q5531554","display_name":"Gene isoform","level":3,"score":0.520373523235321},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5047065019607544},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.46113860607147217},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4374927878379822},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4281958043575287},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.31387245655059814}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:d-scholarship.pitt.edu:13637","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/13637/1/Sager-ETD-2012.pdf","pdf_url":"http://d-scholarship.pitt.edu/13637/1/Sager-ETD-2012.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},{"id":"mag:89872206","doi":null,"is_oa":false,"landing_page_url":"http://d-scholarship.pitt.edu/id/eprint/13637","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:d-scholarship.pitt.edu:13637","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/13637/1/Sager-ETD-2012.pdf","pdf_url":"http://d-scholarship.pitt.edu/13637/1/Sager-ETD-2012.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W89872206.pdf","grobid_xml":"https://content.openalex.org/works/W89872206.grobid-xml"},"referenced_works_count":162,"referenced_works":["https://openalex.org/W49661798","https://openalex.org/W104830422","https://openalex.org/W1499260848","https://openalex.org/W1507505347","https://openalex.org/W1511517753","https://openalex.org/W1590123136","https://openalex.org/W1590226922","https://openalex.org/W1706576307","https://openalex.org/W1824821953","https://openalex.org/W1828932747","https://openalex.org/W1857560941","https://openalex.org/W1932232911","https://openalex.org/W1933480341","https://openalex.org/W1943362480","https://openalex.org/W1964814516","https://openalex.org/W1966323641","https://openalex.org/W1967912038","https://openalex.org/W1971360525","https://openalex.org/W1971971409","https://openalex.org/W1972519169","https://openalex.org/W1973572453","https://openalex.org/W1974074671","https://openalex.org/W1974074947","https://openalex.org/W1975005663","https://openalex.org/W1978377628","https://openalex.org/W1978577114","https://openalex.org/W1982736767","https://openalex.org/W1985183002","https://openalex.org/W1986783417","https://openalex.org/W1989619236","https://openalex.org/W1993034175","https://openalex.org/W1993142493","https://openalex.org/W1997720284","https://openalex.org/W1998724633","https://openalex.org/W1998756807","https://openalex.org/W1999305754","https://openalex.org/W1999756778","https://openalex.org/W2000052294","https://openalex.org/W2001298341","https://openalex.org/W2003130300","https://openalex.org/W2003979167","https://openalex.org/W2004035417","https://openalex.org/W2004043475","https://openalex.org/W2004261380","https://openalex.org/W2004649251","https://openalex.org/W2005571161","https://openalex.org/W2007776037","https://openalex.org/W2009532318","https://openalex.org/W2009766076","https://openalex.org/W2010276497","https://openalex.org/W2010778537","https://openalex.org/W2011002931","https://openalex.org/W2011260043","https://openalex.org/W2014115747","https://openalex.org/W2016717707","https://openalex.org/W2016741820","https://openalex.org/W2017194371","https://openalex.org/W2017613141","https://openalex.org/W2018084437","https://openalex.org/W2018185396","https://openalex.org/W2018467317","https://openalex.org/W2018956577","https://openalex.org/W2020921336","https://openalex.org/W2023006572","https://openalex.org/W2024621623","https://openalex.org/W2026667906","https://openalex.org/W2029858337","https://openalex.org/W2030977705","https://openalex.org/W2031675248","https://openalex.org/W2035198471","https://openalex.org/W2035675733","https://openalex.org/W2036052128","https://openalex.org/W2037149526","https://openalex.org/W2038690111","https://openalex.org/W2039525732","https://openalex.org/W2040473218","https://openalex.org/W2042175324","https://openalex.org/W2043474702","https://openalex.org/W2044746434","https://openalex.org/W2044914662","https://openalex.org/W2046643908","https://openalex.org/W2049979242","https://openalex.org/W2050701501","https://openalex.org/W2052628874","https://openalex.org/W2057281288","https://openalex.org/W2057636635","https://openalex.org/W2058363047","https://openalex.org/W2059265460","https://openalex.org/W2061151435","https://openalex.org/W2064811902","https://openalex.org/W2067302077","https://openalex.org/W2067455339","https://openalex.org/W2069456643","https://openalex.org/W2070403335","https://openalex.org/W2071661423","https://openalex.org/W2072306758","https://openalex.org/W2072531919","https://openalex.org/W2073012734","https://openalex.org/W2073960615","https://openalex.org/W2077457890","https://openalex.org/W2078959464","https://openalex.org/W2079050436","https://openalex.org/W2081636325","https://openalex.org/W2083245174","https://openalex.org/W2083605841","https://openalex.org/W2084752631","https://openalex.org/W2085586303","https://openalex.org/W2087264052","https://openalex.org/W2089090033","https://openalex.org/W2089656194","https://openalex.org/W2091151964","https://openalex.org/W2091570417","https://openalex.org/W2092227385","https://openalex.org/W2092357505","https://openalex.org/W2094517189","https://openalex.org/W2096005445","https://openalex.org/W2096386031","https://openalex.org/W2099791270","https://openalex.org/W2104785885","https://openalex.org/W2104809172","https://openalex.org/W2108562363","https://openalex.org/W2109406683","https://openalex.org/W2109686700","https://openalex.org/W2110835349","https://openalex.org/W2114074319","https://openalex.org/W2118225192","https://openalex.org/W2120271502","https://openalex.org/W2121642311","https://openalex.org/W2121731311","https://openalex.org/W2123298340","https://openalex.org/W2125270610","https://openalex.org/W2127004861","https://openalex.org/W2127774205","https://openalex.org/W2128281537","https://openalex.org/W2128610702","https://openalex.org/W2128966898","https://openalex.org/W2128968777","https://openalex.org/W2129682862","https://openalex.org/W2129775648","https://openalex.org/W2132531056","https://openalex.org/W2137015675","https://openalex.org/W2141066952","https://openalex.org/W2143024963","https://openalex.org/W2144740152","https://openalex.org/W2145159457","https://openalex.org/W2146849272","https://openalex.org/W2150261685","https://openalex.org/W2150958067","https://openalex.org/W2152322252","https://openalex.org/W2156071702","https://openalex.org/W2156304130","https://openalex.org/W2156407587","https://openalex.org/W2158565708","https://openalex.org/W2158883798","https://openalex.org/W2159377066","https://openalex.org/W2160289007","https://openalex.org/W2160988431","https://openalex.org/W2166155593","https://openalex.org/W2191877372","https://openalex.org/W2233489363","https://openalex.org/W2255469197","https://openalex.org/W3102554982"],"related_works":["https://openalex.org/W2157579590","https://openalex.org/W2753049734","https://openalex.org/W1973572453","https://openalex.org/W1874398063","https://openalex.org/W2048727831","https://openalex.org/W2800108338","https://openalex.org/W6964932326","https://openalex.org/W2007744533","https://openalex.org/W1651023999","https://openalex.org/W422463883"],"abstract_inverted_index":{"Dystonia":[0],"is":[1,21,45,122],"characterized":[2],"by":[3,23,234],"sustained":[4],"involuntary":[5],"muscle":[6],"contractions":[7],"producing":[8],"repetitive":[9],"twisting":[10],"movements":[11],"and":[12,94,142,155,205,242,261,270,317,335,341],"abnormal":[13],"postures.":[14],"DYT1":[15,89,277],"dystonia,":[16,20],"an":[17],"early-onset":[18],"primary":[19],"caused":[22,176,248],"a":[24,36,177,212,306],"trinucleotide":[25],"deletion":[26],"in":[27,32,40,57,73,81,103,160,169,190,226,287,296],"the":[28,33,41,67,77,104,113,116,170,180,183,187,243,253,271,276,289,299,333],"TOR1A":[29,72],"gene,":[30],"resulting":[31,56],"loss":[34],"of":[35,52,61,70,79,88,106,115,135,165,174,179,200,222,240,267,298,315,338],"single":[37],"glutamic":[38],"acid":[39,133],"TorsinA":[42,247,260],"protein.":[43],"It":[44],"unknown":[46],"how":[47],"this":[48,62,268,339],"mutation":[49],"causes":[50,279],"dysfunction":[51],"CNS":[53,162],"motor":[54],"circuits":[55],"dystonia.":[58,345],"The":[59,131],"aims":[60],"work":[63],"were:":[64],"(i)":[65],"characterize":[66],"zebrafish":[68,86,161,262,286,300,328],"homolog":[69],"human":[71,146,196,245,259,291],"order":[74],"to":[75,145,186,193,250,252,331,344],"elucidate":[76,332],"functions":[78,221,231],"Torsins":[80],"vivo;":[82],"(ii)":[83],"generate":[84],"transgenic":[85,285,303,327],"models":[87],"dystonia":[90],"suitable":[91],"for":[92,319],"mechanistic":[93],"drug":[95],"discovery":[96],"studies.":[97],"An":[98],"ancestral":[99],"tor1":[100,121,201,223],"gene":[101],"found":[102],"genomes":[105],"several":[107],"fish":[108],"species":[109],"was":[110,151,157,294],"duplicated":[111],"at":[112],"root":[114],"tetrapod":[117],"lineage.":[118],"In":[119,265],"zebrafish,":[120],"expressed":[123,295],"as":[124],"two":[125],"isoforms":[126,138],"with":[127,195],"unique":[128],"5'":[129],"exons.":[130],"amino":[132],"sequences":[134],"both":[136],"Torsin1":[137,175,241,249,263],"are":[139,232],"59%":[140],"identical":[141],"78%":[143],"homologous":[144],"TorsinA.":[147,197],"A":[148],"novel":[149],"antibody":[150],"generated":[152,283],"against":[153],"Torsin1,":[154],"immunoreactivity":[156],"detected":[158],"broadly":[159],"neurons.":[163],"Introduction":[164],"ATP-hydrolysis":[166],"abrogating":[167],"mutations":[168],"Walker":[171],"B":[172],"domain":[173],"relocalization":[178],"protein":[181],"from":[182],"endoplasmic":[184],"reticulum":[185],"nuclear":[188,254],"envelope":[189],"vitro,":[191],"similar":[192],"findings":[194],"Transient":[198],"knockdown":[199],"expression":[202],"during":[203],"embryonic":[204],"early":[206],"larval":[207],"development":[208,316],"did":[209],"not":[210],"produce":[211],"detectable":[213],"cellular":[214],"or":[215,228],"behavioral":[216],"phenotype,":[217,310],"suggesting":[218,257],"that":[219,229,258],"essential":[220],"occur":[224],"later":[225],"development,":[227],"compensatory":[230],"provided":[233],"other":[235],"Torsin":[236],"family":[237],"proteins.":[238],"Co-expression":[239],"dystonia-associated":[244],"mutant":[246,278,293],"relocalize":[251],"envelope,":[255],"strongly":[256],"interact.":[264],"view":[266],"interaction,":[269],"proposed":[272],"dominant-negative":[273],"mechanism":[274],"whereby":[275],"clinical":[280],"disease,":[281],"we":[282],"stable":[284],"which":[288],"dystonia-related":[290],"TorsinA[\u0394E]":[292],"neurons":[297],"CNS.":[301],"These":[302],"animals":[304],"exhibited":[305],"transient,":[307],"juvenile-onset":[308],"hypokinetic":[309],"beginning":[311],"around":[312],"one":[313,321],"month":[314],"lasting":[318],"approximately":[320],"week.":[322],"Future":[323],"studies":[324],"using":[325],"these":[326],"will":[329],"aim":[330],"physiological":[334],"molecular":[336],"basis":[337],"phenotype":[340],"its":[342],"relation":[343]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}