{"id":"https://openalex.org/W3000209649","doi":"https://doi.org/10.5525/gla.thesis.76745","title":"Evaluation of gene-therapy as an alternative to pharmacological based approaches in mouse models of Rett syndrome","display_name":"Evaluation of gene-therapy as an alternative to pharmacological based approaches in mouse models of Rett syndrome","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W3000209649","doi":"https://doi.org/10.5525/gla.thesis.76745","mag":"3000209649"},"language":"en","primary_location":{"id":"pmh:oai:theses.gla.ac.uk:76745","doi":null,"is_oa":true,"landing_page_url":"https://theses.gla.ac.uk/76745/1/2019VudhironaritPhD.pdf","pdf_url":"https://theses.gla.ac.uk/76745/1/2019VudhironaritPhD.pdf","source":{"id":"https://openalex.org/S4306401724","display_name":"Enlighten: Theses (The University of Glasgow)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I7882870","host_organization_name":"University of Glasgow","host_organization_lineage":["https://openalex.org/I7882870"],"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":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://theses.gla.ac.uk/76745/1/2019VudhironaritPhD.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036334136","display_name":"Thishnapha Vudhironarit","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Vudhironarit, Thishnapha","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5036334136"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.8227999806404114,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.8227999806404114,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10613","display_name":"Virus-based gene therapy research","score":0.17110000550746918,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10725","display_name":"RNA Interference and Gene Delivery","score":0.0038999998942017555,"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/rett-syndrome","display_name":"Rett syndrome","score":1.0},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.7630000114440918},{"id":"https://openalex.org/keywords/mecp2","display_name":"MeCP2","score":0.9229999780654907},{"id":"https://openalex.org/keywords/mecp2-knockout-mice","display_name":"Mecp2 knockout mice","score":0.8429999947547913},{"id":"https://openalex.org/keywords/aav9-vector","display_name":"AAV9 vector","score":0.7390000224113464},{"id":"https://openalex.org/keywords/augmentation-therapy","display_name":"augmentation therapy","score":0.5740000009536743},{"id":"https://openalex.org/keywords/dose-escalation","display_name":"dose escalation","score":0.5479999780654907},{"id":"https://openalex.org/keywords/behavioral-phenotyping","display_name":"behavioral phenotyping","score":0.574999988079071}],"concepts":[{"id":"https://openalex.org/C2777543196","wikidata":"https://www.wikidata.org/wiki/Q917357","display_name":"Rett syndrome","level":3,"score":0.9667128324508667},{"id":"https://openalex.org/C111599444","wikidata":"https://www.wikidata.org/wiki/Q213901","display_name":"Genetic enhancement","level":3,"score":0.4905175566673279},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4558511972427368},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.4341227412223816},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.4150824546813965},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.37089741230010986},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.34636813402175903},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.29762619733810425},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24717947840690613},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23900020122528076}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:theses.gla.ac.uk:76745","doi":null,"is_oa":true,"landing_page_url":"https://theses.gla.ac.uk/76745/1/2019VudhironaritPhD.pdf","pdf_url":"https://theses.gla.ac.uk/76745/1/2019VudhironaritPhD.pdf","source":{"id":"https://openalex.org/S4306401724","display_name":"Enlighten: Theses (The University of Glasgow)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I7882870","host_organization_name":"University of Glasgow","host_organization_lineage":["https://openalex.org/I7882870"],"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":"Thesis"},{"id":"doi:10.5525/gla.thesis.76745","doi":"https://doi.org/10.5525/gla.thesis.76745","is_oa":true,"landing_page_url":"https://doi.org/10.5525/gla.thesis.76745","pdf_url":null,"source":{"id":"https://openalex.org/S7407050753","display_name":"University of Glasgow","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"mag:3000209649","doi":null,"is_oa":false,"landing_page_url":"https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.797238","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:theses.gla.ac.uk:76745","doi":null,"is_oa":true,"landing_page_url":"https://theses.gla.ac.uk/76745/1/2019VudhironaritPhD.pdf","pdf_url":"https://theses.gla.ac.uk/76745/1/2019VudhironaritPhD.pdf","source":{"id":"https://openalex.org/S4306401724","display_name":"Enlighten: Theses (The University of Glasgow)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I7882870","host_organization_name":"University of Glasgow","host_organization_lineage":["https://openalex.org/I7882870"],"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":"Thesis"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320324279","display_name":"Ministry of Science and Technology of Thailand","ror":"https://ror.org/02nfy5246"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3000209649.pdf","grobid_xml":"https://content.openalex.org/works/W3000209649.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2952158790","https://openalex.org/W2796863055","https://openalex.org/W2036860002","https://openalex.org/W2495982971","https://openalex.org/W2103164882","https://openalex.org/W7046899665","https://openalex.org/W3171842475","https://openalex.org/W2159774069","https://openalex.org/W7127041571","https://openalex.org/W4240683006"],"abstract_inverted_index":{"Rett":[0],"syndrome":[1],"(RTT)":[2],"is":[3,41,125],"a":[4,58,89,126,229,260],"neurological":[5,82],"disorder":[6,109],"characterized":[7],"by":[8,22,279],"severe":[9],"impairment":[10],"of":[11,20,37,50,61,79,100,107,113,121,131,138,148,150,200,221,259,289],"motor":[12],"and":[13,73,110,156,181,241,257,299],"cognitive":[14],"functions,":[15],"caused":[16],"in":[17,26,47,68,85,116,145,171,188,283,314],">95":[18],"%":[19],"patients":[21],"de":[23],"novo":[24],"mutations":[25],"the":[27,51,64,80,105,108,114,122,146,165,176,191,222,235,255,269,273,287,292,307,316],"X-linked":[28],"gene,":[29,39],"methyl-CpG-binding":[30],"protein":[31,35],"2":[32],"(MECP2)":[33],"gene.The":[34],"product":[36],"this":[38,160,290],"MeCP2,":[40],"widely":[42],"expressed":[43],"but":[44],"especially":[45],"abundant":[46],"postmitotic":[48],"neurons":[49],"central":[52],"nervous":[53],"system":[54],"(CNS).However,":[55],"there":[56],"remains":[57],"fundamental":[59],"lack":[60,99],"knowledge":[62],"about":[63],"downstream":[65],"pathways":[66],"involved":[67],"gene":[69,124,140,151,169],"function.Both":[70],"Mecp2":[71,224,249,317],"knock-out":[72],"knock-in":[74],"mutant":[75],"mice":[76,117,187,302],"present":[77],"many":[78],"overt":[81],"features":[83],"seen":[84],"RTT":[86,172,178,186],"patients.Both":[87],"provide":[88],"very":[90],"useful":[91],"model":[92,180,320],"for":[93,167,185,190,305],"testing":[94,193],"potential":[95,127,166],"therapeutic":[96,128,194],"applications.The":[97],"current":[98],"effective":[101],"therapies":[102],"together":[103],"with":[104,215,272],"monogenicity":[106],"established":[111],"reversibility":[112],"phenotype":[115],"suggest":[118],"that":[119,237,313],"replacement":[120],"MECP2":[123],"option":[129],"worthy":[130],"exploration,":[132],"mainly":[133],"using":[134],"viral":[135,201],"based":[136],"delivery":[137,149,245],"MECP2-based":[139],"constructs.Significant":[141],"challenges":[142],"remain,":[143],"both":[144],"efficiency":[147],"constructs":[152],"to":[153,233,246,267],"target":[154],"cells":[155],"controlling":[157],"construct-derived":[158],"toxicity.In":[159],"study,":[161],"I":[162,174,196,253],"have":[163],"explored":[164],"augmentation":[168],"therapy":[170],"mice.First,":[173],"determine":[175],"best":[177],"mouse":[179,293,309,319],"modify":[182],"behavioral":[183],"tests":[184],"preparation":[189],"experiment":[192],"agents.Second,":[195],"assessed":[197],"escalating":[198],"doses":[199],"vector":[202,213,263],"containing":[203],"human":[204],"MECP2_e1":[205],"isoform":[206],"coding":[207],"sequences":[208],"cloned":[209],"into":[210],"an":[211],"AAV2":[212],"backbone":[214],"AAV9":[216],"capsid":[217],"(scAAV9)":[218],"under":[219],"control":[220],"murine":[223],"endogenous":[225],"core":[226],"promoter":[227],"(MeP229),":[228],"first":[230],"generation":[231],"vector,":[232],"ascertain":[234],"dose":[236],"has":[238],"greater":[239],"efficacy":[240,288],"lower":[242],"toxicity":[243,270],"after":[244],"young":[247],"adult":[248],"knockout":[250,318],"male":[251,284,298],"mice.Third,":[252],"assess":[254],"safety":[256],"effectiveness":[258],"new":[261],"AAV":[262],"construct":[264],"design":[265],"aiming":[266],"reduce":[268],"observed":[271],"first-generation":[274],"vector.This":[275],"was":[276],"carried":[277],"out":[278],"direct":[280],"brain":[281],"injection":[282],"neonates":[285],"proving":[286],"vector.In":[291],"behavioural":[294],"studies,":[295],"symptomatic":[296],"hemizygous":[297],"heterozygous":[300],"female":[301],"were":[303],"used":[304],"assessment":[306],"two":[308],"models.The":[310],"results":[311],"demonstrated":[312],"males,":[315],"differed":[321]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2020-01-23T00:00:00"}