371 related articles for article (PubMed ID: 17714750)
1. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).
Marcos J; Shackleton CH; Buddhikot MM; Porter FD; Watson GL
Steroids; 2007 Oct; 72(11-12):802-8. PubMed ID: 17714750
[TBL] [Abstract][Full Text] [Related]
2. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Ginat S; Battaile KP; Battaile BC; Maslen C; Gibson KM; Steiner RD
Mol Genet Metab; 2004; 83(1-2):175-83. PubMed ID: 15464432
[TBL] [Abstract][Full Text] [Related]
3. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
Correa-Cerro LS; Wassif CA; Kratz L; Miller GF; Munasinghe JP; Grinberg A; Fliesler SJ; Porter FD
Hum Mol Genet; 2006 Mar; 15(6):839-51. PubMed ID: 16446309
[TBL] [Abstract][Full Text] [Related]
4. Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz syndrome.
Korade Z; Xu L; Harrison FE; Ahsen R; Hart SE; Folkes OM; Mirnics K; Porter NA
Biol Psychiatry; 2014 Feb; 75(3):215-22. PubMed ID: 23896203
[TBL] [Abstract][Full Text] [Related]
5. Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor.
Tallman KA; Kim HH; Korade Z; Genaro-Mattos TC; Wages PA; Liu W; Porter NA
Redox Biol; 2017 Aug; 12():182-190. PubMed ID: 28258022
[TBL] [Abstract][Full Text] [Related]
6. Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.
Matabosch X; Ying L; Serra M; Wassif CA; Porter FD; Shackleton C; Watson G
J Steroid Biochem Mol Biol; 2010 Nov; 122(5):303-9. PubMed ID: 20800683
[TBL] [Abstract][Full Text] [Related]
7. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
Fitzky BU; Moebius FF; Asaoka H; Waage-Baudet H; Xu L; Xu G; Maeda N; Kluckman K; Hiller S; Yu H; Batta AK; Shefer S; Chen T; Salen G; Sulik K; Simoni RD; Ness GC; Glossmann H; Patel SB; Tint GS
J Clin Invest; 2001 Sep; 108(6):905-15. PubMed ID: 11560960
[TBL] [Abstract][Full Text] [Related]
8. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
Porter FD
Mol Genet Metab; 2000; 71(1-2):163-74. PubMed ID: 11001807
[TBL] [Abstract][Full Text] [Related]
9. Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
Jiang XS; Backlund PS; Wassif CA; Yergey AL; Porter FD
Mol Cell Proteomics; 2010 Jul; 9(7):1461-75. PubMed ID: 20305089
[TBL] [Abstract][Full Text] [Related]
10. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
Mills K; Mandel H; Montemagno R; Soothill P; Gershoni-Baruch R; Clayton PT
Pediatr Res; 1996 May; 39(5):816-9. PubMed ID: 8726234
[TBL] [Abstract][Full Text] [Related]
11. An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.
Xu L; Korade Z; Rosado JDA; Liu W; Lamberson CR; Porter NA
J Lipid Res; 2011 Jun; 52(6):1222-1233. PubMed ID: 21402677
[TBL] [Abstract][Full Text] [Related]
12. Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H; Patel SB
Clin Genet; 2005 Nov; 68(5):383-91. PubMed ID: 16207203
[TBL] [Abstract][Full Text] [Related]
13. Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome.
Korade Z; Xu L; Shelton R; Porter NA
J Lipid Res; 2010 Nov; 51(11):3259-69. PubMed ID: 20702862
[TBL] [Abstract][Full Text] [Related]
14. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production.
Steiner RD; Linck LM; Flavell DP; Lin DS; Connor WE
J Lipid Res; 2000 Sep; 41(9):1437-47. PubMed ID: 10974051
[TBL] [Abstract][Full Text] [Related]
15. Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol.
Chignell CF; Kukielczak BM; Sik RH; Bilski PJ; He YY
Free Radic Biol Med; 2006 Jul; 41(2):339-46. PubMed ID: 16814115
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
Wassif CA; Maslen C; Kachilele-Linjewile S; Lin D; Linck LM; Connor WE; Steiner RD; Porter FD
Am J Hum Genet; 1998 Jul; 63(1):55-62. PubMed ID: 9634533
[TBL] [Abstract][Full Text] [Related]
17. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Battaile KP; Steiner RD
Mol Genet Metab; 2000; 71(1-2):154-62. PubMed ID: 11001806
[TBL] [Abstract][Full Text] [Related]
18. DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.
Xu L; Mirnics K; Bowman AB; Liu W; Da J; Porter NA; Korade Z
Neurobiol Dis; 2012 Mar; 45(3):923-9. PubMed ID: 22182693
[TBL] [Abstract][Full Text] [Related]
19. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Matabosch X; Rahman M; Hughes B; Patel SB; Watson G; Shackleton C
J Steroid Biochem Mol Biol; 2009 Aug; 116(1-2):61-70. PubMed ID: 19406241
[TBL] [Abstract][Full Text] [Related]
20. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.
Linck LM; Lin DS; Flavell D; Connor WE; Steiner RD
Am J Med Genet; 2000 Aug; 93(5):360-5. PubMed ID: 10951458
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]