Disorders of Cholesterol Biosynthesis

Overview

Journal Arch Dis Child

Specialty Pediatrics

Date 1998 May 14

PMID 9579167

Citations 12

Authors

P T Clayton

Affiliations

Soon will be listed here.

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References

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Gibson K, Hoffmann G, Sweetman L, Buckingham B . Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. J Inherit Metab Dis. 1997; 20(3):391-4. DOI: 10.1023/a:1005394315300. View

Berger R, Smit G, Schierbeek H, Bijsterveld K, Le Coultre R . Mevalonic aciduria: an inborn error of cholesterol biosynthesis?. Clin Chim Acta. 1985; 152(1-2):219-22. DOI: 10.1016/0009-8981(85)90195-0. View

Hoffmann G, Gibson K, BRANDT I, Bader P, Wappner R, Sweetman L . Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986; 314(25):1610-4. DOI: 10.1056/NEJM198606193142504. View

Shah S, Johnson R . Effect of serum lipoproteins on growth and sterol synthesis in cultured rat brain glial cells. J Neurochem. 1988; 50(5):1529-36. DOI: 10.1111/j.1471-4159.1988.tb03040.x. View

Barbu V, Roux C, Lambert D, Dupuis R, Gardette J, Maziere J . Cholesterol prevents the teratogenic action of AY 9944: importance of the timing of cholesterol supplementation to rats. J Nutr. 1988; 118(6):774-9. DOI: 10.1093/jn/118.6.774. View

Roux F, Mokni R, Hughes C, Clouet P, Lefauconnier J, Bourre J . Lipid synthesis by rat brain microvessel endothelial cells in tissue culture. J Neuropathol Exp Neurol. 1989; 48(4):437-47. DOI: 10.1097/00005072-198907000-00005. View

Hoffmann G, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson K . Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993; 91(5):915-21. View

Tint G, Irons M, Elias E, Batta A, Frieden R, Chen T . Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994; 330(2):107-13. DOI: 10.1056/NEJM199401133300205. View

10.

Irons M, Elias E, Tint G, Salen G, Frieden R, Buie T . Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994; 50(4):347-52. DOI: 10.1002/ajmg.1320500409. View

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ACOSTA P . RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome. Am J Med Genet. 1994; 50(4):358-63. DOI: 10.1002/ajmg.1320500412. View

12.

McGaughran J, Clayton P, Mills K, Rimmer S, Moore L, Donnai D . Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am J Med Genet. 1995; 56(3):269-71. DOI: 10.1002/ajmg.1320560306. View

13.

Batta A, Tint G, SHEFER S, Abuelo D, Salen G . Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. J Lipid Res. 1995; 36(4):705-13. View

14.

Honda A, Tint G, Salen G, Batta A, Chen T, SHEFER S . Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res. 1995; 36(7):1595-601. View

15.

SHEFER S, Salen G, Batta A, Honda A, Tint G, Irons M . Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest. 1995; 96(4):1779-85. PMC: 185814. DOI: 10.1172/JCI118223. View

16.

Xu G, Salen G, SHEFER S, Ness G, Chen T, Zhao Z . Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766. Gastroenterology. 1995; 109(4):1301-7. DOI: 10.1016/0016-5085(95)90592-8. View

17.

Hyett J, Clayton P, Moscoso G, Nicolaides K . Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am J Med Genet. 1995; 58(4):374-6. DOI: 10.1002/ajmg.1320580415. View

18.

Biardi L, Krisans S . Compartmentalization of cholesterol biosynthesis. Conversion of mevalonate to farnesyl diphosphate occurs in the peroxisomes. J Biol Chem. 1996; 271(3):1784-8. DOI: 10.1074/jbc.271.3.1784. View

19.

Batta A, Salen G, Tint G, SHEFER S . Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome. J Lipid Res. 1995; 36(11):2413-8. View

20.

Mills K, Mandel H, Montemagno R, Soothill P, Gershoni-Baruch R, Clayton P . First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). Pediatr Res. 1996; 39(5):816-9. DOI: 10.1203/00006450-199605000-00012. View