Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients with this syndrome. Both 7- and 8-DHC are suscept...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
2013
|
| In: |
Journal of lipid research
Year: 2021, Volume: 54, Issue: 1, Pages: 244-253 |
| ISSN: | 1539-7262 |
| DOI: | 10.1194/jlr.M031732 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1194/jlr.M031732 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0022227520417791 
|
| Author Notes: | Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, and Ned A. Porter |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1758172835 | ||
| 003 | DE-627 | ||
| 005 | 20220819211754.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210519r20132021xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1194/jlr.M031732 |2 doi | |
| 035 | |a (DE-627)1758172835 | ||
| 035 | |a (DE-599)KXP1758172835 | ||
| 035 | |a (OCoLC)1341413486 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Liu, Wei |e VerfasserIn |0 (DE-588)1067861580 |0 (DE-627)819301671 |0 (DE-576)427000068 |4 aut | |
| 245 | 1 | 0 | |a Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients |c Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, and Ned A. Porter |
| 264 | 1 | |c 2013 | |
| 300 | |a 10 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Available online 4 January 2021 | ||
| 500 | |a Published, JLR Papers in Press, October 16, 2012 | ||
| 500 | |a Gesehen am 19.05.2021 | ||
| 520 | |a Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients with this syndrome. Both 7- and 8-DHC are susceptible to peroxidation reactions, and several biologically active DHC oxysterols are found in cell and animal models of SLOS. Ex vivo oxidation of DHCs can be a confounding factor in the analysis of these sterols and their esters, and we developed HPLC/MS methods that permit the direct analysis of cholesterol, 7-DHC, 8-DHC, and their esters in human plasma, thus avoiding ex vivo oxidation. In addition, three oxysterols were classified as endogenously formed products by the use of an isotopically-labeled 7-DHC (d7-7-DHC) added to the sample before workup, followed by MS analysis of products formed. Analysis of 17 SLOS plasma samples shows that 8-DHC linoleate correlates better with the SLOS severity score of the patients than other sterols or metabolites, including cholesterol and 7-DHC. Levels of 7-ketocholesterol also correlate with the SLOS severity score. 8-DHC esters should have utility as surrogate markers of severity in SLOS for prognostication and as endpoints in clinical trials. | ||
| 534 | |c 2021 | ||
| 650 | 4 | |a 7-dehydrocholesterol | |
| 650 | 4 | |a 8-dehydrocholesterol | |
| 650 | 4 | |a acyl-CoA:cholesterol acyltransferase | |
| 650 | 4 | |a free radical oxidation | |
| 650 | 4 | |a lecithin:cholesterol acyl transferase | |
| 650 | 4 | |a lipid peroxidation | |
| 650 | 4 | |a oxysterol | |
| 650 | 4 | |a sterol ester | |
| 700 | 1 | |a Xu, Libin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lamberson, Connor R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Merkens, Louise S. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Steiner, Robert D. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Elias, Ellen R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Haas, Dorothea |d 1965- |e VerfasserIn |0 (DE-588)1038104505 |0 (DE-627)756671280 |0 (DE-576)392125196 |4 aut | |
| 700 | 1 | |a Porter, Ned A. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of lipid research |d Amsterdam : Elsevier, 1959 |g 54(2013), 1 vom: Jan., Seite 244-253 |h Online-Ressource |w (DE-627)26601593X |w (DE-600)1466675-3 |w (DE-576)074960008 |x 1539-7262 |7 nnas |a Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients |
| 773 | 1 | 8 | |g volume:54 |g year:2013 |g number:1 |g month:01 |g pages:244-253 |g extent:10 |a Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients |
| 856 | 4 | 0 | |u https://doi.org/10.1194/jlr.M031732 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S0022227520417791 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20210519 | ||
| 993 | |a Article | ||
| 994 | |a 2013 | ||
| 998 | |g 1038104505 |a Haas, Dorothea |m 1038104505:Haas, Dorothea |d 910000 |d 910500 |e 910000PH1038104505 |e 910500PH1038104505 |k 0/910000/ |k 1/910000/910500/ |p 7 | ||
| 999 | |a KXP-PPN1758172835 |e 3929665697 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"note":[" Available online 4 January 2021"," Published, JLR Papers in Press, October 16, 2012","Gesehen am 19.05.2021"],"origin":[{"dateIssuedDisp":"2013","dateIssuedKey":"2013"}],"person":[{"family":"Liu","given":"Wei","role":"aut","display":"Liu, Wei"},{"role":"aut","display":"Xu, Libin","given":"Libin","family":"Xu"},{"display":"Lamberson, Connor R.","role":"aut","family":"Lamberson","given":"Connor R."},{"family":"Merkens","given":"Louise S.","display":"Merkens, Louise S.","role":"aut"},{"given":"Robert D.","family":"Steiner","display":"Steiner, Robert D.","role":"aut"},{"role":"aut","display":"Elias, Ellen R.","family":"Elias","given":"Ellen R."},{"family":"Haas","given":"Dorothea","display":"Haas, Dorothea","role":"aut"},{"role":"aut","display":"Porter, Ned A.","given":"Ned A.","family":"Porter"}],"title":[{"title":"Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients","title_sort":"Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients"}],"relHost":[{"part":{"pages":"244-253","text":"54(2013), 1 vom: Jan., Seite 244-253","issue":"1","year":"2013","volume":"54","extent":"10"},"title":[{"title":"Journal of lipid research","title_sort":"Journal of lipid research","subtitle":"JLR"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patientsJournal of lipid research","language":["eng"],"titleAlt":[{"title":"JLR"}],"origin":[{"dateIssuedDisp":"1959-","publisher":"Elsevier ; ASBMB ; Lipid Research","publisherPlace":"Amsterdam ; Bethesda, Md. ; Bethesda, Md. [u.a.]","dateIssuedKey":"1959"}],"note":["Gesehen am 19.05.2021","Fortsetzung der Druck-Ausgabe"],"physDesc":[{"extent":"Online-Ressource"}],"recId":"26601593X","name":{"displayForm":["publ. by the American Society for Biochemistry and Molecular Biology"]},"pubHistory":["1.1959 -"],"id":{"zdb":["1466675-3"],"issn":["1539-7262"],"eki":["26601593X"]}}],"physDesc":[{"extent":"10 S."}],"name":{"displayForm":["Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, and Ned A. Porter"]},"language":["eng"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"recId":"1758172835","id":{"eki":["1758172835"],"doi":["10.1194/jlr.M031732"]}} | ||
| SRT | |a LIUWEIXULIASSAYSOFPL2013 | ||