{"id":"https://openalex.org/W1919787871","doi":null,"title":"A mitochondrial profile in a mouse model of dominant optic atrophy","display_name":"A mitochondrial profile in a mouse model of dominant optic atrophy","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W1919787871","mag":"1919787871"},"language":"en","primary_location":{"id":"pmh:oai:https://orca.cardiff.ac.uk:73770","doi":null,"is_oa":false,"landing_page_url":"https://orca.cardiff.ac.uk/id/eprint/73770/13/Waters%20-%20Caroline%20-%20Thesis%20-%20DEC%20PAGE%20REMOVED.pdf","pdf_url":"https://orca.cardiff.ac.uk/id/eprint/73770/13/Waters%20-%20Caroline%20-%20Thesis%20-%20DEC%20PAGE%20REMOVED.pdf","source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://uilis.unsyiah.ac.id/opentheses/items/show/58624","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5063668074","display_name":"Caroline T Waters","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Caroline T Waters","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5063668074"],"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9961000084877014,"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"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9961000084877014,"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"}},{"id":"https://openalex.org/T10587","display_name":"Autophagy in Disease and Therapy","score":0.0007999999797903001,"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/T10250","display_name":"Glaucoma and retinal disorders","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/autosomal-dominant-optic-atrophy","display_name":"autosomal dominant optic atrophy","score":0.9940000176429749},{"id":"https://openalex.org/keywords/opa1","display_name":"OPA1","score":0.9599999785423279},{"id":"https://openalex.org/keywords/mitochondrial-fusion","display_name":"mitochondrial fusion","score":0.6499999761581421},{"id":"https://openalex.org/keywords/oxidative-phosphorylation","display_name":"oxidative phosphorylation","score":0.765999972820282},{"id":"https://openalex.org/keywords/bioenergetics","display_name":"bioenergetics","score":0.8489999771118164},{"id":"https://openalex.org/keywords/antioxidant-activity","display_name":"antioxidant activity","score":0.8980000019073486},{"id":"https://openalex.org/keywords/reactive-oxygen-species","display_name":"reactive oxygen species","score":0.7929999828338623},{"id":"https://openalex.org/keywords/resveratrol","display_name":"resveratrol","score":0.7910000085830688},{"id":"https://openalex.org/keywords/optic-atrophy","display_name":"optic atrophy","score":0.7540000081062317},{"id":"https://openalex.org/keywords/retinal-mitochondria","display_name":"retinal mitochondria","score":0.6679999828338623},{"id":"https://openalex.org/keywords/vision-loss","display_name":"vision loss","score":0.5929999947547913}],"concepts":[{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.7096502780914307},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6799038648605347},{"id":"https://openalex.org/C163950672","wikidata":"https://www.wikidata.org/wiki/Q14905375","display_name":"mitochondrial fusion","level":4,"score":0.6459894776344299},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.638247549533844},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.5275266170501709},{"id":"https://openalex.org/C156407911","wikidata":"https://www.wikidata.org/wiki/Q420160","display_name":"Dynamin","level":4,"score":0.49419358372688293},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.4792632758617401},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.47405263781547546},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4437513053417206},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.32772862911224365},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.32483726739883423},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16264158487319946},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.0},{"id":"https://openalex.org/C28005876","wikidata":"https://www.wikidata.org/wiki/Q189814","display_name":"Endocytosis","level":3,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:https://orca.cardiff.ac.uk:73770","doi":null,"is_oa":false,"landing_page_url":"https://orca.cardiff.ac.uk/id/eprint/73770/13/Waters%20-%20Caroline%20-%20Thesis%20-%20DEC%20PAGE%20REMOVED.pdf","pdf_url":"https://orca.cardiff.ac.uk/id/eprint/73770/13/Waters%20-%20Caroline%20-%20Thesis%20-%20DEC%20PAGE%20REMOVED.pdf","source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"pmh:oai:uilis.unsyiah.ac.id:58624","doi":null,"is_oa":true,"landing_page_url":"http://uilis.unsyiah.ac.id/opentheses/items/show/58624","pdf_url":"http://uilis.unsyiah.ac.id/opentheses/items/show/58624","source":{"id":"https://openalex.org/S4377196378","display_name":"UPT. Syiah Kuala University Library (Syiah Kuala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I187494767","host_organization_name":"Universitas Syiah Kuala","host_organization_lineage":["https://openalex.org/I187494767"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"mag:1919787871","doi":null,"is_oa":false,"landing_page_url":"https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.649443","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:uilis.unsyiah.ac.id:58624","doi":null,"is_oa":true,"landing_page_url":"http://uilis.unsyiah.ac.id/opentheses/items/show/58624","pdf_url":"http://uilis.unsyiah.ac.id/opentheses/items/show/58624","source":{"id":"https://openalex.org/S4377196378","display_name":"UPT. Syiah Kuala University Library (Syiah Kuala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I187494767","host_organization_name":"Universitas Syiah Kuala","host_organization_lineage":["https://openalex.org/I187494767"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1919787871.pdf","grobid_xml":"https://content.openalex.org/works/W1919787871.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2504204730","https://openalex.org/W2161437961","https://openalex.org/W2017938016","https://openalex.org/W1884805716","https://openalex.org/W2091331379","https://openalex.org/W2028101246","https://openalex.org/W2345282773","https://openalex.org/W3172887937","https://openalex.org/W2013872010","https://openalex.org/W6906662402"],"abstract_inverted_index":{"Autosomal":[0],"dominant":[1],"optic":[2,78],"atrophy":[3,75],"(ADOA)":[4],"is":[5,17,31,37,44,68,142],"a":[6,11,24,32,110,196,208],"mitochondrial":[7,49,62,121,183],"disorder":[8],"caused":[9],"by":[10],"nuclear":[12],"DNA":[13],"\\nmutation.":[14],"The":[15,28,80,123,136,145,205,243],"mutation":[16],"within":[18,159,216],"the":[19,47,77,115,127,133,167,180,217,234,248],"OPA1":[20,66],"gene,":[21],"which":[22,36],"encodes":[23],"120kDa":[25],"protein":[26,67],"product.":[27],"protein,":[29],"OPA1,":[30],"dynamin":[33],"like":[34],"GTPase,":[35],"responsible":[38],"for":[39],"fusion":[40,160],"of":[41,76,90,107,126,139,147,169,182,187,207,225,245],"mitochondria.":[42,162],"It":[43],"located":[45],"in":[46,53,82,156,192,201,239],"inner":[48],"membrane":[50,57],"and":[51,71,172,189,212,220,257],"functions":[52],"conjunction":[54],"with":[55,118,185],"outer":[56],"fission":[58],"proteins":[59],"to":[60,92,113,120,232,247],"maintain":[61],"integrity.":[63],"\\n":[64,101,176],"\\nThe":[65,102],"expressed":[69],"ubiquitously":[70],"heterozygous":[72],"mutations":[73],"cause":[74],"nerve.":[79],"variability":[81],"human":[83],"ADOA":[84,108],"phenotype":[85],"may":[86,153],"suggest":[87],"some":[88],"level":[89],"susceptibility":[91],"vision":[93],"loss":[94],"whereas":[95],"other":[96],"individuals":[97],"appear":[98,231],"symptom":[99],"free.":[100],"Opa1":[103,226],"Q285STOP":[104,227],"mouse":[105,141,194,228,241],"model":[106],"provides":[109],"unique":[111],"opportunity":[112],"examine":[114],"disease":[116,128],"pathology":[117],"respect":[119],"haploinsufficiency.":[122],"tissue":[124],"specificity":[125],"suggests":[129],"local":[130],"control":[131],"over":[132],"OXPHOS":[134,188],"environment.":[135],"bioenergetic":[137,151,197],"activity":[138,149],"Opa1Q285STOP":[140,193],"currently":[143],"unestablished.":[144],"status":[146],"antioxidant":[148,190,211],"supporting":[150],"function":[152],"be":[154],"vital":[155],"maintaining":[157],"stability":[158,164],"deficient":[161],"Mitochondrial":[163],"could":[165],"influence":[166,233],"extent":[168],"reactive":[170],"species,":[171],"ultimately,":[173],"ATP":[174],"production.":[175],"\\nThis":[177],"thesis":[178],"combined":[179],"study":[181],"haploinsufficiency":[184],"analysis":[186],"levels":[191],"where":[195],"deficit":[198],"was":[199],"identified":[200],"all":[202],"mitochondria":[203],"tested.":[204],"addition":[206],"plant":[209],"derived":[210],"its":[213],"potential":[214],"effects":[215],"retinal":[218],"environment":[219],"surrounding":[221],"central":[222],"nervous":[223],"system":[224],"did":[229],"not":[230],"extended":[235],"phenotypic":[236],"profile":[237],"observed":[238],"this":[240],"model.":[242],"administration":[244],"\\nresveratrol":[246],"wild":[249],"type":[250],"population":[251],"conferred":[252],"disadvantages":[253],"both":[254],"In":[255,258],"Vivo":[256],"Vitro.":[259]},"counts_by_year":[],"updated_date":"2026-08-30T07:30:35.949966","created_date":"2016-06-24T00:00:00"}
