{"id":"https://openalex.org/W2769966632","doi":"https://doi.org/10.1161/circ.134.suppl_1.19455","title":"Abstract 19455: A Novel Caveolin-1 Frameshift Mutation Shows Critical Regulation of Mitochondrial Structure, Function and Extracellular Transport","display_name":"Abstract 19455: A Novel Caveolin-1 Frameshift Mutation Shows Critical Regulation of Mitochondrial Structure, Function and Extracellular Transport","publication_year":2016,"publication_date":"2016-11-11","ids":{"openalex":"https://openalex.org/W2769966632","doi":"https://doi.org/10.1161/circ.134.suppl_1.19455","mag":"2769966632"},"language":"en","primary_location":{"id":"doi:10.1161/circ.134.suppl_1.19455","doi":"https://doi.org/10.1161/circ.134.suppl_1.19455","is_oa":false,"landing_page_url":"http://dx.doi.org/10.1161/circ.134.suppl_1.19455","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082373685","display_name":"Jamila H. Siamwala","orcid":"https://orcid.org/0000-0001-9482-9183","observed_orcids":["https://orcid.org/0000-0001-9482-9183"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jamila H Siamwala","raw_affiliation_strings":["Anesthesiology, UCSD, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Anesthesiology, UCSD, San Diego, CA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085229937","display_name":"Ross Corridien","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ross Corridien","raw_affiliation_strings":["Pharmacology, UCSD, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pharmacology, UCSD, San Diego, CA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101975098","display_name":"Uyen T. T. Nguyen","orcid":"https://orcid.org/0000-0003-2833-7724","observed_orcids":["https://orcid.org/0000-0003-2833-7724"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Uyen Nguyen","raw_affiliation_strings":["Anesthesiology, UCSD, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Anesthesiology, UCSD, San Diego, CA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014428724","display_name":"Angela Meier","orcid":"https://orcid.org/0000-0002-6766-531X","observed_orcids":["https://orcid.org/0000-0002-6766-531X"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Angela Meier","raw_affiliation_strings":["Anesthesiology, UCSD, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Anesthesiology, UCSD, San Diego, CA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036840732","display_name":"Isabelle Schrauwen","orcid":"https://orcid.org/0000-0001-7310-6082","observed_orcids":["https://orcid.org/0000-0001-7310-6082"]},"institutions":[{"id":"https://openalex.org/I1284308235","display_name":"Translational Genomics Research Institute","ror":"https://ror.org/02hfpnk21","country_code":"US","type":"facility","lineage":["https://openalex.org/I1284308235"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Isabelle Schrauwen","raw_affiliation_strings":["TGEN, Translational Genomic Cntr, Arizona, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TGEN, Translational Genomic Cntr, Arizona, TX","institution_ids":["https://openalex.org/I1284308235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030711196","display_name":"Keri M. Ramsey","orcid":"https://orcid.org/0000-0002-4905-1840","observed_orcids":["https://orcid.org/0000-0002-4905-1840"]},"institutions":[{"id":"https://openalex.org/I1284308235","display_name":"Translational Genomics Research Institute","ror":"https://ror.org/02hfpnk21","country_code":"US","type":"facility","lineage":["https://openalex.org/I1284308235"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Keri Ramsey","raw_affiliation_strings":["TGEN, Translational Genomic Cntr, Arizona, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TGEN, Translational Genomic Cntr, Arizona, TX","institution_ids":["https://openalex.org/I1284308235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050073634","display_name":"Vinodh Narayanan","orcid":"https://orcid.org/0000-0002-0658-3847","observed_orcids":["https://orcid.org/0000-0002-0658-3847"]},"institutions":[{"id":"https://openalex.org/I1284308235","display_name":"Translational Genomics Research Institute","ror":"https://ror.org/02hfpnk21","country_code":"US","type":"facility","lineage":["https://openalex.org/I1284308235"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vinodh Narayanan","raw_affiliation_strings":["TGEN, Translational Genomic Cntr, Arizona, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TGEN, Translational Genomic Cntr, Arizona, TX","institution_ids":["https://openalex.org/I1284308235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102925906","display_name":"David M. Roth","orcid":"https://orcid.org/0000-0001-5735-0050","observed_orcids":["https://orcid.org/0000-0001-5735-0050"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David M Roth","raw_affiliation_strings":["Anesthesiology, UCSD, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Anesthesiology, UCSD, San Diego, CA","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014165479","display_name":"Hemal H. Patel","orcid":"https://orcid.org/0000-0001-6722-9625","observed_orcids":["https://orcid.org/0000-0001-6722-9625"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hemal H Patel","raw_affiliation_strings":["Anesthesiology, UCSD, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Anesthesiology, UCSD, San Diego, CA","institution_ids":["https://openalex.org/I36258959"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"134","issue":"suppl_1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12793","display_name":"Caveolin-1 and cellular processes","score":0.9814000129699707,"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"}},"topics":[{"id":"https://openalex.org/T12793","display_name":"Caveolin-1 and cellular processes","score":0.9814000129699707,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.016599999740719795,"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/T10441","display_name":"Muscle Physiology and Disorders","score":9.999999747378752e-05,"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/caveolin-1","display_name":"caveolin-1","score":0.996999979019165},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.9810000061988831},{"id":"https://openalex.org/keywords/mitochondrial-function","display_name":"mitochondrial function","score":0.5130000114440918},{"id":"https://openalex.org/keywords/mitochondrial-structure","display_name":"mitochondrial structure","score":0.8130000233650208},{"id":"https://openalex.org/keywords/mitochondrial-transport","display_name":"mitochondrial transport","score":0.6370000243186951},{"id":"https://openalex.org/keywords/extracellular-mitochondria","display_name":"extracellular mitochondria","score":0.6790000200271606},{"id":"https://openalex.org/keywords/drp1","display_name":"Drp1","score":0.7350000143051147},{"id":"https://openalex.org/keywords/mitochondrial-fission","display_name":"mitochondrial fission","score":0.9459999799728394},{"id":"https://openalex.org/keywords/reactive-oxygen-species","display_name":"reactive oxygen species","score":0.9020000100135803},{"id":"https://openalex.org/keywords/mitochondrial-respiration","display_name":"mitochondrial respiration","score":0.9259999990463257},{"id":"https://openalex.org/keywords/succinate-dehydrogenase","display_name":"succinate dehydrogenase","score":0.8600000143051147},{"id":"https://openalex.org/keywords/caveolae","display_name":"caveolae","score":0.6499999761581421},{"id":"https://openalex.org/keywords/pulmonary-hypertension","display_name":"pulmonary hypertension","score":0.7910000085830688},{"id":"https://openalex.org/keywords/lipodystrophy","display_name":"lipodystrophy","score":0.7839999794960022},{"id":"https://openalex.org/keywords/progeroid-phenotype","display_name":"progeroid phenotype","score":0.7870000004768372},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.7630000114440918}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.7642245292663574},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7057453989982605},{"id":"https://openalex.org/C28406088","wikidata":"https://www.wikidata.org/wiki/Q5571762","display_name":"Extracellular","level":2,"score":0.5797452330589294},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.5141332745552063},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.4849095940589905},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.460690975189209},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.4332069158554077},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32287201285362244},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.32285594940185547},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1451617181301117},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13396519422531128}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1161/circ.134.suppl_1.19455","doi":"https://doi.org/10.1161/circ.134.suppl_1.19455","is_oa":false,"landing_page_url":"http://dx.doi.org/10.1161/circ.134.suppl_1.19455","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4398167048","https://openalex.org/W3016365901","https://openalex.org/W4389023959","https://openalex.org/W4389021092","https://openalex.org/W2755362551","https://openalex.org/W2524534136","https://openalex.org/W2143142630","https://openalex.org/W3083376963","https://openalex.org/W3008264888","https://openalex.org/W2766220861"],"abstract_inverted_index":{"Introduction:":[0],"Caveolins":[1],"act":[2],"as":[3,94,96,213],"molecular":[4],"scaffolds":[5],"for":[6],"signal":[7],"transduction.":[8],"A":[9],"number":[10,127,133],"of":[11,40,57,102,113,128,134,165,176,215,288,303,306],"caveolin-1":[12],"(Cav-1)":[13],"mutations":[14,295],"are":[15,63],"associated":[16],"with":[17,20,152,234,260,265],"pulmonary":[18,35],"hypertension":[19],"one":[21],"recent":[22],"frameshift":[23],"mutation":[24,74],"in":[25,30,55,115,149,174,180,198,224,258,269,273,296],"exon":[26],"3":[27],"(c.478_479delTT)":[28],"resulting":[29],"progeroid-like":[31],"phenotype,":[32],"lipodystrophy,":[33],"and":[34,80,83,98,106,125,131,137,168,254,292,294],"hypertension.":[36],"The":[37],"cellular":[38,67],"etiology":[39,302],"these":[41],"diverse":[42],"phenotypes":[43],"is":[44],"unknown.":[45],"We":[46,85],"have":[47],"recently":[48],"shown":[49],"a":[50,64,72,89,100,285,304],"critical":[51,286],"relationship":[52],"between":[53,245],"caveolins":[54],"regulation":[56],"mitochondrial":[58,78,116,156,251,271,289,301],"function.":[59,81],"Hypothesis:":[60],"As":[61],"mitochondria":[62,139,167,239],"key":[65],"to":[66,109,141,184,202,218,222,228],"homeostasis,":[68],"we":[69],"hypothesize":[70],"that":[71,281],"Cav-1":[73,114,266,282,297],"(CM)":[75],"can":[76],"alter":[77],"structure":[79],"Methods":[82],"Results:":[84],"obtained":[86],"fibroblasts":[87],"from":[88],"patient":[90],"containing":[91],"the":[92,111,261,278,300],"CM":[93,150,181,199,225,274],"well":[95],"controls":[97],"utilized":[99],"variety":[101,305],"microscopy,":[103],"cell":[104],"biology,":[105],"biochemical":[107],"techniques":[108],"study":[110],"role":[112],"regulation.":[117],"Transmission":[118],"electron":[119],"microscopy":[120,233],"revealed":[121],"dysmorphic":[122],"nuclei,":[123],"enlarged":[124],"increased":[126,132,148],"endoplasmic":[129],"reticulum,":[130],"smaller,":[135],"swollen,":[136],"rounded":[138],"compared":[140,183,201,227],"normal":[142,185,203,229,246],"cells.":[143,230,275],"Mitochondrial":[144,207],"DNA":[145],"content":[146],"was":[147,211,256],"cells":[151,182,186,200,204,226,259],"immunoblots":[153],"showing":[154],"decreased":[155],"fission":[157],"protein":[158],"DRP1.":[159],"Mitotracker":[160],"staining":[161,236],"showed":[162,171,193,237],"large":[163],"pools":[164],"aggregated":[166],"DCFDA":[169],"assay":[170,192],"3-fold":[172],"increase":[173],"production":[175],"reactive":[177],"oxygen":[178],"species":[179],"(p<0.0001,":[187],"n=8).":[188],"Seahorse":[189],"metabolic":[190],"flux":[191],"lower":[194],"maximal":[195],"respiration":[196,272],"rates":[197],"(p=0.0035,":[205],"n=24).":[206],"complex":[208],"II":[209],"activity":[210],"impaired":[212,249],"addition":[214],"succinate":[216],"failed":[217],"evoke":[219],"any":[220],"response":[221],"ADP":[223],"Live":[231],"3D":[232],"mitotracker":[235],"extracellular":[238,250],"being":[240],"transported":[241],"along":[242],"structured":[243],"nanotubes":[244],"cell;":[247],"however,":[248],"cargo":[252],"arrangement":[253],"movement":[255],"observed":[257],"CM.":[262],"Rescue":[263],"experiments":[264],"overexpression":[267],"resulted":[268],"improved":[270],"Conclusion:":[276],"Together":[277],"results":[279],"indicate":[280],"may":[283,298],"be":[284],"regulator":[287],"structure,":[290],"function,":[291],"transport":[293],"explain":[299],"diseases.":[307]},"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2017-12-04T00:00:00"}