{"id":"https://openalex.org/W1582053154","doi":"https://doi.org/10.1016/s0021-9258(18)46040-1","title":"The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia.","display_name":"The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia.","publication_year":1992,"publication_date":"1992-01-01","ids":{"openalex":"https://openalex.org/W1582053154","doi":"https://doi.org/10.1016/s0021-9258(18)46040-1","mag":"1582053154","pmid":"https://pubmed.ncbi.nlm.nih.gov/1730728"},"language":"en","primary_location":{"id":"doi:10.1016/s0021-9258(18)46040-1","doi":"https://doi.org/10.1016/s0021-9258(18)46040-1","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0021-9258(18)46040-1","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/s0021-9258(18)46040-1","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Y Horie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Y Horie","raw_affiliation_strings":["Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067797353","display_name":"Sergio Fazio","orcid":"https://orcid.org/0000-0002-2743-9836","observed_orcids":["https://orcid.org/0000-0002-2743-9836"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S Fazio","raw_affiliation_strings":["Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":null,"display_name":"J R Westerlund","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J R Westerlund","raw_affiliation_strings":["Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110083694","display_name":"Karl Heinrich Weisgraber","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K H Weisgraber","raw_affiliation_strings":["Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108565654","display_name":"S. Carlton Rall","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S C Rall","raw_affiliation_strings":["Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gladstone Foundation Laboratories for Cardiovascular Disease, University of California-San Francisco 94140-0608","institution_ids":["https://openalex.org/I180670191"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I180670191"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":{"value":3430,"currency":"USD","value_usd":3430},"fwci":9.8013,"has_fulltext":false,"cited_by_count":94,"citation_normalized_percentile":{"value":0.98357274,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"267","issue":"3","first_page":"1962","last_page":"1968"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.5199999809265137,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T13430","display_name":"Lipid metabolism and disorders","score":0.5199999809265137,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.38940000534057617,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.0714000016450882,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/apolipoprotein-e","display_name":"apolipoprotein E","score":0.9449999928474426},{"id":"https://openalex.org/keywords/type-iii-hyperlipoproteinemia","display_name":"type III hyperlipoproteinemia","score":0.8899999856948853},{"id":"https://openalex.org/keywords/apolipoprotein-e2","display_name":"apolipoprotein E2","score":0.8130000233650208},{"id":"https://openalex.org/keywords/apolipoprotein-e3","display_name":"apolipoprotein E3","score":0.7300000190734863},{"id":"https://openalex.org/keywords/very-low-density-lipoprotein","display_name":"VLDL","score":0.765999972820282},{"id":"https://openalex.org/keywords/dominant-inheritance","display_name":"dominant inheritance","score":0.5239999890327454}],"concepts":[{"id":"https://openalex.org/C2779201268","wikidata":"https://www.wikidata.org/wiki/Q186474","display_name":"Cysteine","level":3,"score":0.7346326112747192},{"id":"https://openalex.org/C2781338088","wikidata":"https://www.wikidata.org/wiki/Q903495","display_name":"Residue (chemistry)","level":2,"score":0.6013548970222473},{"id":"https://openalex.org/C62746215","wikidata":"https://www.wikidata.org/wiki/Q14890615","display_name":"Apolipoprotein B","level":3,"score":0.5452519059181213},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.473161518573761},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.376394122838974},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.32687026262283325},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22398599982261658},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.16428574919700623},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.07259204983711243}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D001057","descriptor_name":"Apolipoproteins E","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001665","descriptor_name":"Binding Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001667","descriptor_name":"Binding, Competitive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004926","descriptor_name":"Escherichia coli","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005822","descriptor_name":"Genetic Vectors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006493","descriptor_name":"Heparin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006952","descriptor_name":"Hyperlipoproteinemia Type III","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006952","descriptor_name":"Hyperlipoproteinemia Type III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007700","descriptor_name":"Kinetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011973","descriptor_name":"Receptors, LDL","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0021-9258(18)46040-1","doi":"https://doi.org/10.1016/s0021-9258(18)46040-1","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0021-9258(18)46040-1","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},{"id":"pmid:1730728","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1730728","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of biological chemistry","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1016/s0021-9258(18)46040-1","doi":"https://doi.org/10.1016/s0021-9258(18)46040-1","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0021-9258(18)46040-1","pdf_url":null,"source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3786833126","display_name":"LIPOPROTEIN STRUCTURE/FUNCTION IN CHOLESTEROL METABOLISM","funder_award_id":"P01HL041633","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W176599066","https://openalex.org/W314960756","https://openalex.org/W941423621","https://openalex.org/W1483795916","https://openalex.org/W1490077018","https://openalex.org/W1505230657","https://openalex.org/W1530990265","https://openalex.org/W1546262989","https://openalex.org/W1548248031","https://openalex.org/W1576642143","https://openalex.org/W1577502861","https://openalex.org/W1586986973","https://openalex.org/W1968541049","https://openalex.org/W1979447150","https://openalex.org/W1994543234","https://openalex.org/W2006345470","https://openalex.org/W2029007538","https://openalex.org/W2034968148","https://openalex.org/W2038977574","https://openalex.org/W2050763556","https://openalex.org/W2076742691","https://openalex.org/W2080831516","https://openalex.org/W2111774300","https://openalex.org/W2119332560","https://openalex.org/W2138270253","https://openalex.org/W2155559959","https://openalex.org/W2161200077","https://openalex.org/W4205945069"],"related_works":["https://openalex.org/W2188294485","https://openalex.org/W2074727767","https://openalex.org/W145399279","https://openalex.org/W2132023886","https://openalex.org/W2081151510","https://openalex.org/W1981437877","https://openalex.org/W1979447150","https://openalex.org/W2055176061","https://openalex.org/W7096334131","https://openalex.org/W1971583342"],"abstract_inverted_index":{"Type":[0],"III":[1,16,230,289],"hyperlipoproteinemia":[2,17],"typically":[3],"is":[4,23,159,223],"associated":[5,18,224],"with":[6,19,141,225,262,284],"homozygosity":[7],"for":[8,27,161,281],"apolipoprotein":[9],"(apo)":[10],"E2(Arg158----Cys).":[11],"Dominant":[12],"expression":[13,227,286],"of":[14,68,109,120,145,167,174,192,203,218,228,251,269,272,287],"type":[15,229,288],"apoE":[20,30,79,102,132,204],"phenotype":[21],"E3/3":[22],"caused":[24],"by":[25,114,122,127,259],"heterozygosity":[26],"a":[28,86,278],"human":[29,139],"variant,":[31,89],"apoE3(Cys112----Arg,":[32],"Arg142----Cys).":[33],"However,":[34],"this":[35,69,78],"apoE3":[36,44,244],"variant":[37,80,239,276],"was":[38],"not":[39,154],"separable":[40],"from":[41,106,253],"the":[42,50,65,94,110,118,162,168,175,182,188,200,209,246,263,273],"normal":[43,146,243],"in":[45,81,117,245],"these":[46],"patients'":[47],"plasma":[48,252],"because":[49],"two":[51,101],"proteins":[52],"have":[53],"identical":[54],"amino":[55],"acid":[56],"composition,":[57],"charge,":[58],"and":[59,126,172,208],"molecular":[60],"weight.":[61],"Therefore,":[62,149],"to":[63,76,135,205,234],"determine":[64],"functional":[66,270],"characteristics":[67],"protein,":[70],"we":[71],"used":[72],"recombinant":[73],"DNA":[74],"techniques":[75],"produce":[77],"bacteria.":[82],"We":[83],"also":[84],"produced":[85],"non-naturally":[87],"occurring":[88],"apoE(Arg142----Cys),":[90],"that":[91],"had":[92,178],"only":[93,142],"cysteine":[95,150],"substituted":[96],"at":[97,151,156,196],"residue":[98,152,157,197],"142.":[99],"These":[100],"variants":[103,133],"were":[104],"purified":[105],"cell":[107],"lysates":[108],"transfected":[111],"Escherichia":[112],"coli":[113],"ultracentrifugal":[115],"flotation":[116],"presence":[119],"phospholipid,":[121],"gel":[123],"filtration":[124],"chromatography,":[125],"heparin-Sepharose":[128],"chromatography.":[129],"Both":[130],"Cys142":[131,238,275],"bound":[134],"lipoprotein":[136],"receptors":[137],"on":[138,181],"fibroblasts":[140],"about":[143],"20%":[144],"binding":[147,165,183,190,201,217],"activity.":[148],"142,":[153],"arginine":[155],"112,":[158],"responsible":[160],"decreased":[163,199],"receptor":[164,189,216],"activity":[166,191,202],"variants.":[169],"Cysteamine":[170],"treatment":[171],"removal":[173],"carboxyl-terminal":[176],"domain":[177],"little":[179],"effect":[180],"activity,":[184],"whereas":[185,220],"both":[186,206],"modulate":[187],"apoE2(Arg158----Cys).":[193],"The":[194,236,266],"mutation":[195],"142":[198],"heparin":[207],"monoclonal":[210],"antibody":[211,214,264],"1D7":[212],"(this":[213],"inhibits":[215],"apoE),":[219],"apoE2(Arg158----Cys),":[221],"which":[222],"recessive":[226],"hyperlipoproteinemia,":[231],"binds":[232],"normally":[233],"both.":[235],"Arg112,":[237,274],"predominantes":[240],"3:1":[241],"over":[242],"very":[247],"low":[248],"density":[249],"lipoproteins":[250],"an":[254],"affected":[255],"subject,":[256],"as":[257],"assessed":[258],"differential":[260],"reactivity":[261],"1D7.":[265],"unique":[267],"combination":[268],"properties":[271],"provides":[277],"possible":[279],"explanation":[280],"its":[282],"association":[283],"dominant":[285],"hyperlipoproteinemia.":[290]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}