Cholesterol precursors and facial clefting

Journal of Clinical Investigation

Volumn 116, Issue 9, 2006, Pages 2322-2325

  Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; DESMOSTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LATHOSTEROL; SONIC HEDGEHOG PROTEIN;

CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA; CLEFT FACE; CLEFT PALATE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DYSPLASIA; EMBRYO DEVELOPMENT; FACE MALFORMATION; GENE MUTATION; HUMAN; INBORN ERROR OF STEROID METABOLISM; LIMB DEFECT; MALFORMATION SYNDROME; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PLACENTA; PRIORITY JOURNAL; REVIEW; SMITH LEMLI OPITZ SYNDROME;

ANIMALS; CHOLESTEROL; CLEFT LIP; CLEFT PALATE; HEDGEHOG PROTEINS; HUMANS; INFANT; LIPID METABOLISM, INBORN ERRORS; MICE; MICE, KNOCKOUT; MOUTH ABNORMALITIES; TRANS-ACTIVATORS;

EID: 33748290172     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI29872     Document Type: Review

References (17)

1. Kelley, R.I., and Hennekam, R.C. 2000. The Smith-Lemli-Opitz syndrome. J. Med. Genet. 37:321-335.
2. Irons, M., Elias, E.R., Salen, G., Tint, G.S., and Batta, A.K. 1993. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 341:1414.
3. Porter, F.D. 2002. Malformation syndromes due to inborn errors of cholesterol synthesis. J. Clin. Invest. 110:715-724. doi:10.1172/JCI200216386.
4. Shackleton, C., Roitman, E., Guo, L.W., Wilson, W.K., and Porter, F.D. 2002. Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). J. Steroid Biochem. Mol. Biol. 82:225-232.
5. Wassif, C.A., Yu, J., Cui, J., Porter, F.D., and Javitt, N.B. 2003. 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. Steroids. 68:497-502.
6. Engelking, L.J., et al. 2006. Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin. J. Clin. Invest. 116:2356-2365. doi:10.1172/JCI28988.
7. Goldstein, J.L., DeBose-Boyd, R.A., and Brown, M.S. 2006. Protein sensors for membrane sterols. Cell. 124:35-46.
8. Engelking, L.J., et al. 2005. Schoenheimer effect explained - feedback regulation of cholesterol synthesis in mice mediated by Insig proteins. J. Clin. Invest. 115:2489-2498. doi:10.1172/JCI25614.
9. Wassif, C.A., et al. 2001. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Hum. Mol. Genet. 10:555-564.
10. Krakowiak, P.A., et al. 2003. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum. Mol. Genet. 12:1631-1641.
11. Wechsler, A., et al. 2003. Generation of viable cholesterol-free mice. Science. 302:2087.
12. Porter, J.A., Young, K.E., and Beachy, P.A. 1996. Cholesterol modification of hedgehog signaling proteins in animal development. Science. 274:255-259.
13. Rice, R., et al. 2004. Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate. J. Clin. Invest. 113:1692-1700. doi:10.1172/JCI200420384.
14. Lewis, P.M., et al. 2001. Cholesterol modification of sonic hedgehog is required for long-range signaling activity and effective modulation of signaling by Ptc1. Cell. 105:599-612.
15. Cooper, M.K., et al. 2003. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat. Genet. 33:508-513.
16. Corcoran, R.B., and Scott, M.P. 2006. Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells. Proc. Natl. Acad. Sci. U. S. A. 103:8408-8413.
17. Frank-Kamenetsky, M., et al. 2002. Small-molecule modulators of Hedgehog signaling: identification and characterization of Smoothened agonists and antagonists. J. Biol. 1:10.