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http://purl.uniprot.org/citations/26073399http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26073399http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26073399http://www.w3.org/2000/01/rdf-schema#comment"We report a novel heterozygous apolipoprotein A-I (apoA-I) missense mutation (c.517C>A, p.Arg149Ser, designated as apoA-IBoston) in a 67-year-old woman and her 2 sons, who had mean serum high-density lipoprotein (HDL) cholesterol, apoA-I, and apoA-I in very large α-1 HDL that were 10%, 35%, and 16% of normal, respectively (all P < .05). The percentage of HDL cholesterol in the esterified form was also significantly (P < .05) reduced to 52% of control values. Cholesteryl ester tranfer protein (CETP) activity was normal. The mean global, adenosine triphosphate (ATP)-binding cassette transporter A1 and scavenger receptor B type I-mediated cellular cholesterol efflux capacity in apoB-depleted serum from affected family members were 41%, 37%, 47%, 54%, and 48% of control values, respectively (all P < .05). lecithin-cholesterol acyltransferase (LCAT) activity in plasma was 71% of controls, whereas in the cell-based assay, it was 73% of control values (P < .05). The data indicate that this novel apoA-I missense is associated with markedly decreased levels of HDL cholesterol and very large α-1 HDL, as well as decreased serum cellular cholesterol efflux and LCAT activity, but not with premature coronary heart disease, similar to other apoA-I mutations that have been associated with decreased LCAT activity."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.org/dc/terms/identifier"doi:10.1016/j.jacl.2015.02.005"xsd:string
http://purl.uniprot.org/citations/26073399http://purl.org/dc/terms/identifier"doi:10.1016/j.jacl.2015.02.005"xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Schaefer E.J."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Schaefer E.J."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Anthanont P."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Anthanont P."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Asztalos B.F."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Asztalos B.F."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Polisecki E."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Polisecki E."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Zachariah B."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/author"Zachariah B."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/name"J. Clin. Lipidol."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/name"J. Clin. Lipidol."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/pages"390-395"xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/pages"390-395"xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/title"Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/title"Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux."xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/volume"9"xsd:string
http://purl.uniprot.org/citations/26073399http://purl.uniprot.org/core/volume"9"xsd:string