Search: onr:"swepub:oai:DiVA.org:umu-30617" > Mutation of conserv...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 03843naa a2200541 4500 | |
001 | oai:DiVA.org:umu-30617 | |
003 | SwePub | |
008 | 100108s2010 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:120432974 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-306172 URI |
024 | 7 | a https://doi.org/10.1194/jlr.M0027172 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1204329742 URI |
040 | a (SwePub)umud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Olivecrona, Gunillau Umeå universitet,Fysiologisk kemi4 aut0 (Swepub:umu)guol0002 |
245 | 1 0 | a Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia |
264 | 1 | a New York :b Rockefeller U.P.c 2010 |
338 | a print2 rdacarrier | |
520 | a We investigated a family from northern Sweden in which three of four siblings have congenital chylomicronemia. Lipoprotein lipase (LPL) activity and mass in pre- and post-heparin plasma were low, and LPL release into plasma after heparin injection was delayed. LPL activity and mass in adipose tissue biopsies appeared normal. [35S]Methionine incorporation studies on adipose tissue showed that newly synthesized LPL was normal in size and normally glycosylated. Breast milk from the affected female subjects contained normal to elevated LPL mass and activity levels. The milk had a lower than normal milk lipid content, and the fatty acid composition was compatible with the milk lipids being derived from de novo lipogenesis, rather than from the plasma lipoproteins. Given the delayed release of LPL into the plasma after heparin, we suspected that the chylomicronemia might be caused by mutations in GPIHBP1. Indeed, all three affected siblings were compound heterozygotes for missense mutations involving highly conserved cysteines in the Ly6 domain of GPIHBP1 (C65S and C68G). The mutant GPIHBP1 proteins reached the surface of transfected CHO cells but were defective in their ability to bind LPL (as judged by both cell-based and cell-free LPL binding assays). Thus, the conserved cysteines in the Ly6 domain are crucial for GPIHBP1 function. | |
650 | 7 | a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng |
653 | a compound heterozygote | |
653 | a lipoprotein lipase | |
653 | a milk lipids | |
653 | a mammary gland | |
653 | a glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 | |
653 | a endothelial cells | |
700 | 1 | a Ehrenborg, Ewau Karolinska Institutet4 aut |
700 | 1 | a Semb, Henriku Umeå universitet,Fysiologisk kemi4 aut |
700 | 1 | a Makoveichuk, Elenau Umeå universitet,Fysiologisk kemi4 aut0 (Swepub:umu)elma0002 |
700 | 1 | a Lindberg, Annau Umeå universitet,Fysiologisk kemi4 aut |
700 | 1 | a Hayden, Michael R4 aut |
700 | 1 | a Gin, Peter4 aut |
700 | 1 | a Davies, Brandon S J4 aut |
700 | 1 | a Weinstein, Michael M4 aut |
700 | 1 | a Fong, Loren G4 aut |
700 | 1 | a Beigneux, Anne P4 aut |
700 | 1 | a Young, Stephen G4 aut |
700 | 1 | a Olivecrona, Thomasu Umeå universitet,Fysiologisk kemi4 aut0 (Swepub:umu)thol0003 |
700 | 1 | a Hernell, Olleu Umeå universitet,Pediatrik4 aut0 (Swepub:umu)olhe0002 |
710 | 2 | a Umeå universitetb Fysiologisk kemi4 org |
773 | 0 | t Journal of Lipid Researchd New York : Rockefeller U.P.g 51:6, s. 1535-1545q 51:6<1535-1545x 0022-2275x 1539-7262 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-30617 |
856 | 4 8 | u https://doi.org/10.1194/jlr.M002717 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:120432974 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Copy and save the link in order to return to this view