-
Dueling enigmas: neurosteroids and sigma receptors in the limelight.
Sci STKE. 2000 Nov 28;2000(60):pe1
PMID: 11752623
-
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
J Med Genet. 2000 Jan;37(1):26-32
PMID: 10633130
-
Cholesterol, essential fatty acids, and suicide.
Pharmacopsychiatry. 2002 Jan;35(1):1-5
PMID: 11819151
-
Cholesterol, A beta and Alzheimer's disease.
Trends Neurosci. 2001 Nov;24(11 Suppl):S45-8
PMID: 11881745
-
Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review.
Am J Epidemiol. 2002 Mar 15;155(6):487-95
PMID: 11882522
-
SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver.
J Clin Invest. 2002 May;109(9):1125-31
PMID: 11994399
-
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
Mol Genet Metab. 2002 Apr;75(4):325-34
PMID: 12051964
-
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Am J Med Genet. 2002 Jun 15;110(2):95-102
PMID: 12116245
-
Cholesterol modification of Hedgehog family proteins.
J Clin Invest. 2002 Sep;110(5):591-6
PMID: 12208857
-
Cholesterol, lipid rafts, and disease.
J Clin Invest. 2002 Sep;110(5):597-603
PMID: 12208858
-
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. 2002 Oct;82(2-3):225-32
PMID: 12477489
-
The desmosterol reductase activity of rat brain during development.
J Neurochem. 1971 Oct;18(10):1989-98
PMID: 4399088
-
X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.
Hum Genet. 1979;53(1):65-73
PMID: 535904
-
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
Eur J Pediatr. 1980 Jun;134(1):27-33
PMID: 7408908
-
A new autosomal recessive lethal chondrodystrophy with congenital hydrops.
Am J Med Genet. 1988 Mar;29(3):623-32
PMID: 3377005
-
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
Lancet. 1993 May 29;341(8857):1414
PMID: 7684480
-
Purification and amino-terminal sequencing of the high affinity phenylalkylamine Ca2+ antagonist binding protein from guinea pig liver endoplasmic reticulum.
J Biol Chem. 1994 Nov 18;269(46):29314-20
PMID: 7961902
-
Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766.
Gastroenterology. 1995 Oct;109(4):1301-7
PMID: 7557099
-
Desmosterolosis: a new inborn error of cholesterol biosynthesis.
Lancet. 1996 Aug 10;348(9024):404
PMID: 8709748
-
Cholesterol modification of hedgehog signaling proteins in animal development.
Science. 1996 Oct 11;274(5285):255-9
PMID: 8824192
-
An oxysterol signalling pathway mediated by the nuclear receptor LXR alpha.
Nature. 1996 Oct 24;383(6602):728-31
PMID: 8878485
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nat Genet. 1996 Nov;14(3):357-60
PMID: 8896572
-
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome.
Am J Med Genet. 1997 Jan 31;68(3):328-37
PMID: 9024568
-
The mysteries of sigma receptors: new family members reveal a role in cholesterol synthesis.
Trends Pharmacol Sci. 1997 Mar;18(3):67-70
PMID: 9133773
-
Antley-Bixler syndrome. Description of two new cases and a review of the literature.
Childs Nerv Syst. 1997 May;13(5):275-80; discussion 281
PMID: 9224917
-
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
Am J Hum Genet. 1998 Jul;63(1):55-62
PMID: 9634533
-
Uneven distribution of desmosterol and docosahexaenoic acid in the heads and tails of monkey sperm.
J Lipid Res. 1998 Jul;39(7):1404-11
PMID: 9684743
-
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.
Am J Med Genet. 1999 Mar 19;83(3):213-9
PMID: 10096601
-
Association of sterol- and glycosylphosphatidylinositol-linked proteins with Drosophila raft lipid microdomains.
J Biol Chem. 1999 Apr 23;274(17):12049-54
PMID: 10207028
-
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
Nat Genet. 1999 Jun;22(2):182-7
PMID: 10369263
-
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
Nat Genet. 1999 Jul;22(3):286-90
PMID: 10391218
-
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Nat Genet. 1999 Jul;22(3):291-4
PMID: 10391219
-
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.
Am J Med Genet. 2000 Feb 14;90(4):328-35
PMID: 10710233
-
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
Am J Med Genet. 2000 Feb 14;90(4):339-46
PMID: 10710235
-
The Smith-Lemli-Opitz syndrome.
J Med Genet. 2000 May;37(5):321-35
PMID: 10807690
-
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.
J Lipid Res. 2000 Aug;41(8):1339-46
PMID: 10946022
-
Inborn errors of cholesterol biosynthesis.
Adv Pediatr. 2000;47:1-53
PMID: 10959439
-
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):163-74
PMID: 11001807
-
The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress.
J Neurosci. 2000 Oct 1;20(19):7345-52
PMID: 11007892
-
Decreased prevalence of Alzheimer disease associated with 3-hydroxy-3-methyglutaryl coenzyme A reductase inhibitors.
Arch Neurol. 2000 Oct;57(10):1439-43
PMID: 11030795
-
X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.
Biochim Biophys Acta. 2000 Dec 15;1529(1-3):357-73
PMID: 11111102
-
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
Mol Genet Metab. 2001 Jan;72(1):67-71
PMID: 11161831
-
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.
Am J Med Genet. 2001 Jan 15;98(2):191-200
PMID: 11223857
-
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
Hum Mol Genet. 2001 Mar 15;10(6):555-64
PMID: 11230174
-
Simvastatin strongly reduces levels of Alzheimer's disease beta -amyloid peptides Abeta 42 and Abeta 40 in vitro and in vivo.
Proc Natl Acad Sci U S A. 2001 May 8;98(10):5856-61
PMID: 11296263
-
The sonic hedgehog receptor patched associates with caveolin-1 in cholesterol-rich microdomains of the plasma membrane.
J Biol Chem. 2001 Jun 1;276(22):19503-11
PMID: 11278759
-
Lipid rafts and signal transduction.
Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9
PMID: 11413487
-
Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis.
J Lipid Res. 2001 Jul;42(7):1089-95
PMID: 11441136
-
Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid/sterol domains (rafts). Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, and ceramide.
J Biol Chem. 2001 Sep 7;276(36):33540-6
PMID: 11432870
-
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
Am J Hum Genet. 2001 Oct;69(4):685-94
PMID: 11519011
-
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
J Clin Invest. 2001 Sep;108(6):905-15
PMID: 11560960
-
Genetic disorders of cholesterol biosynthesis in mice and humans.
Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19
PMID: 11592808
-
A cholesterol-lowering drug reduces beta-amyloid pathology in a transgenic mouse model of Alzheimer's disease.
Neurobiol Dis. 2001 Oct;8(5):890-9
PMID: 11592856
-
CNS synaptogenesis promoted by glia-derived cholesterol.
Science. 2001 Nov 9;294(5545):1354-7
PMID: 11701931
-
Hedgehog signaling: a tale of two lipids.
Science. 2001 Nov 30;294(5548):1879-81
PMID: 11729305
-
The interaction between neuroactive steroids and the sigma1 receptor function: behavioral consequences and therapeutic opportunities.
Brain Res Brain Res Rev. 2001 Nov;37(1-3):116-32
PMID: 11744080
-
Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver.
J Lipid Res. 1999 Aug;40(8):1520-8
PMID: 10428990
-
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency.
Steroids. 1999 Jul;64(7):481-90
PMID: 10443904
-
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome.
Am J Med Genet. 1999 Nov 26;87(3):207-16
PMID: 10564872
-
24S-hydroxycholesterol in cerebrospinal fluid is elevated in early stages of dementia.
J Psychiatr Res. 2002 Jan-Feb;36(1):27-32
PMID: 11755458