Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.

Abstract:

:The Smith-Lemli-Opitz syndrome is a disorder of morphogenesis resulting from an enzymatic defect in the last step of cholesterol metabolism (reduction of 7-dehydrocholesterol). Analysis of the defective gene and identification of mutations therein have paved the way for the study of the molecular genetics of the disorder which is caused by numerous different mutations. Future efforts should identify a postulated intracellular signalling activity of sterol intermediates, isolate proteins that govern the sterol traffic between intracellular compartments, structurally characterize the enzyme delta 7-sterol reductase defective in the Smith-Lemli-Opitz syndrome and investigate the pathomechanism of sterol depletion-induced dysmorphogenesis.

journal_name

Curr Opin Lipidol

authors

Fitzky BU,Glossmann H,Utermann G,Moebius FF

doi

10.1097/00041433-199904000-00006

subject

Has Abstract

pub_date

1999-04-01 00:00:00

pages

123-31

issue

2

eissn

0957-9672

issn

1473-6535

journal_volume

10

pub_type

杂志文章,评审
  • Lowering LDL-cholesterol through diet: potential role in the statin era.

    abstract:PURPOSE OF REVIEW:A healthy diet should be rich in vegetables and fruits, whole-grain, high-fiber foods, and fish and should contain a small amount of saturated and trans fats. In addition to these recommendations, some food ingredients such as plant sterol/stanol soy protein and isoflavones may help reduce cholesterol...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e328340b8e7

    authors: Bruckert E,Rosenbaum D

    更新日期:2011-02-01 00:00:00

  • Peroxisome proliferator-activated receptors beta/delta: emerging roles for a previously neglected third family member.

    abstract:PURPOSE OF REVIEW:Peroxisome proliferator-activated receptors alpha, beta/delta and gamma are members of the nuclear receptor superfamily. They mediate the effects of fatty acids and their derivatives at the transcriptional level, and are considered to be lipid sensors that participate in the regulation of energy homeo...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-200304000-00003

    authors: Michalik L,Desvergne B,Wahli W

    更新日期:2003-04-01 00:00:00

  • Fibrates, dyslipoproteinaemia and cardiovascular disease.

    abstract::Recent epidemiological data have reaffirmed that elevated plasma triglyceride and low HDL-cholesterol levels are important risk factors for atherosclerotic vascular disease. The rationale for the clinical use of fibric acid derivatives, which are designed to correct this metabolic nexus, is now on firmer ground. The m...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199912000-00011

    authors: Watts GF,Dimmitt SB

    更新日期:1999-12-01 00:00:00

  • Fenofibrate therapy and cardiovascular protection in diabetes: recommendations after FIELD.

    abstract:PURPOSE OF REVIEW:The aim of the Fenofibrate Intervention and Event Lowering in Diabetes (FIELD) study was to provide valuable information on the ability of fibrates to reduce cardiovascular risk in type 2 diabetes. The purpose of this review is to analyse results from FIELD and to see whether they may lead to modify t...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/01.mol.0000252612.21602.e3

    authors: Vergès B

    更新日期:2006-12-01 00:00:00

  • Coffee, tea and coronary heart disease.

    abstract::The most likely cholesterol-raising factors in unfiltered coffee are kahweol and cafestol. Different brewing methods alter the concentrations of these diterpenes and have caused discrepant results in studies from different parts of the world. The effect of tea on the risk of coronary heart disease is much less clear b...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199502000-00006

    authors: Thelle DS

    更新日期:1995-02-01 00:00:00

  • Metabolism of oxidized LDL by macrophages.

    abstract::Oxidation products of lipids and proteins are found in atherosclerotic plaque and in macrophage foam cells. Macrophages avidly endocytose in-vitro oxidized LDL and accumulate sterols. What is the evidence that such a process is involved in in-vivo foam cell formation? The present review surveys current knowledge on th...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-200010000-00005

    authors: Jessup W,Kritharides L

    更新日期:2000-10-01 00:00:00

  • Mechanisms of oxidative damage of low density lipoprotein in human atherosclerosis.

    abstract::Oxidatively damaged LDL may play a critical role in the pathogenesis of atherosclerotic vascular disease. Several pathways promote LDL oxidation in vitro but the physiologically relevant mechanisms have proven difficult to identify. Detection of stable compounds that result from specific reaction pathways has provided...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199710000-00005

    authors: Heinecke JW

    更新日期:1997-10-01 00:00:00

  • Letting lipids go: hormone-sensitive lipase.

    abstract:PURPOSE OF REVIEW:Despite their pathophysiological importance, the molecular mechanisms and enzymatic components of lipid mobilization from intracellular storage compartments are insufficiently understood. The aim of this review is to evaluate the role of hormone-sensitive lipase in this process. RECENT FINDINGS:Hormo...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-200306000-00009

    authors: Haemmerle G,Zimmermann R,Zechner R

    更新日期:2003-06-01 00:00:00

  • Cytochrome P450-dependent eicosanoid production and crosstalk.

    abstract:PURPOSE OF REVIEW:This review highlights recent advances in eicosanoid biology, especially linked to the cytochrome P450 (CYP)/soluble epoxide hydrolase (sEH) axis in vascular biology and disease. RECENT FINDINGS:Since the first reports that CYP-derived metabolites of arachidonic acid can elicit vascular smooth muscle...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e32834a9790

    authors: Fleming I

    更新日期:2011-10-01 00:00:00

  • Hypertriglyceridemia and low HDL: therapeutic considerations.

    abstract::The recently revised guidelines for cholesterol management in Europe and the USA have focused attention on triglycerides and HDL cholesterol as risk factors for coronary heart disease. In the present review, I shall discuss therapeutic considerations in the treatment of patients with hypertriglyceridemia or low HDL ch...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199402000-00008

    authors: Larsen ML

    更新日期:1994-02-01 00:00:00

  • Adipose tissue failure and mitochondria as a possible target for improvement by bioactive food components.

    abstract:PURPOSE OF REVIEW:Adipose tissue is an essential, highly dynamic and metabolically active tissue that vigorously communicates to support its primary function: the storage of lipids. It performs this function to secure energy supply and prevent lipotoxicity. Adipose tissue is essential for maintaining a healthy glucose ...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e3282f39f95

    authors: Keijer J,van Schothorst EM

    更新日期:2008-02-01 00:00:00

  • Possible contributions of lipoproteins and cholesterol to the pathogenesis of diabetes mellitus type 2.

    abstract:PURPOSE OF REVIEW:Low HDL cholesterol and hypertriglyceridemia as well as lowering of LDL cholesterol with statins increase the risk of T2DM. We discuss the recent findings on the effects of lipoproteins and cholesterol on the function and survival of pancreatic β-cells as well as on obesity and insulin sensitivity of ...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e3283412279

    authors: von Eckardstein A,Sibler RA

    更新日期:2011-02-01 00:00:00

  • Stearoyl-coenzyme A desaturase 1 inhibition and the metabolic syndrome: considerations for future drug discovery.

    abstract:PURPOSE OF REVIEW:The metabolic syndrome has become a leading health concern in developed countries. In the search for strategies to combat this growing problem, stearoyl-CoA desaturase 1 (SCD1) inhibition has been proposed as an attractive therapeutic strategy. However, recent studies warn of potentially harmful conse...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e32833854ac

    authors: Brown JM,Rudel LL

    更新日期:2010-06-01 00:00:00

  • HDL-cholesterol and apolipoproteins in relation to dementia.

    abstract:PURPOSE OF REVIEW:Dementia is a major cause of disability and institutionalization. Apart from age and apolipoprotein E (APOE) genotype, there are currently no established, clinically relevant, noninvasive markers of dementia. We conducted a literature search of recent observational epidemiological studies evaluating t...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0000000000000257

    authors: Koch M,Jensen MK

    更新日期:2016-02-01 00:00:00

  • Novel B-cell subsets in atherosclerosis.

    abstract:PURPOSE OF REVIEW:The number of deaths associated with cardiovascular disease remains high, despite great advances in treating the associated high levels of cholesterol. The main underlying pathology of cardiovascular disease is atherosclerosis, which is recognized as a chronic autoimmune-like inflammatory disease. Hen...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0000000000000335

    authors: Douna H,Kuiper J

    更新日期:2016-10-01 00:00:00

  • How do microRNAs affect vascular smooth muscle cell biology?

    abstract:PURPOSE OF REVIEW:Control of vascular smooth muscle cell (VSMC) phenotype is essential in the development and maintenance of a healthy vasculature. Acquisition of a synthetic, proproliferative phenotype by VSMCs following vascular insult is central to neointimal formation and the development of vascular pathology. Micr...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e32835719a1

    authors: Robinson HC,Baker AH

    更新日期:2012-10-01 00:00:00

  • Gut microbiota as a regulator of energy homeostasis and ectopic fat deposition: mechanisms and implications for metabolic disorders.

    abstract:PURPOSE OF REVIEW:To examine the role of gut microbiota in the regulation of host energy homeostasis and its role in the pathogenesis of obesity, diabetes and nonalcoholic fatty liver disease (NAFLD). RECENT FINDINGS:Experimental models highlight several mechanisms connecting gut microbiota to host energy metabolism: ...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e3283347ebb

    authors: Musso G,Gambino R,Cassader M

    更新日期:2010-02-01 00:00:00

  • Carotenoids and cardiovascular disease: what research gaps remain?

    abstract:PURPOSE OF REVIEW:Dietary and blood carotenoids, including alpha-carotene, beta-carotene, lycopene, lutein/zeaxanthin, and beta-cryptoxanthin, have been examined in a number of epidemiological studies in recent years for the risk of cardiovascular disease. This review assimilated the existing and recent literature on c...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/01.mol.0000203888.42514.27

    authors: Sesso HD

    更新日期:2006-02-01 00:00:00

  • Fatty acid transport proteins.

    abstract:PURPOSE OF REVIEW:Fatty acid transport proteins are a family of proteins involved in fatty acid uptake and activation. This review summarizes recent progress in elucidating the function of fatty acid transport proteins. RECENT FINDINGS:Recent experiments clearly establish FATP1 as a regulated fatty acid transporter in...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e3281338558

    authors: Gimeno RE

    更新日期:2007-06-01 00:00:00

  • Lipoprotein(a): is it more, less or equal to LDL as a causal factor for cardiovascular disease and mortality?

    abstract:PURPOSE OF REVIEW:To summarize the recent studies directly comparing LDL and lipoprotein(a) as causal factors for cardiovascular disease and mortality. RECENT FINDINGS:In approximately 100,000 individuals from the Copenhagen General Population Study for risk of myocardial infarction, in observational analyses per 39 m...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章

    doi:10.1097/MOL.0000000000000681

    authors: Langsted A,Nordestgaard BG

    更新日期:2020-06-01 00:00:00

  • The paraoxonase gene family and coronary heart disease.

    abstract:PURPOSE OF REVIEW:The antioxidant activity of high-density lipoprotein is largely due to the paraoxonase 1 located on it. Experiments with transgenic paraoxonase 1 knock-out mice indicate the potential for this enzyme to protect against atherogenesis. This effect of high-density lipoprotein in decreasing low-density li...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-200208000-00002

    authors: Mackness B,Durrington PN,Mackness MI

    更新日期:2002-08-01 00:00:00

  • Genetic defenses against noncholesterol sterols.

    abstract::PURPOSE OF REVIEW This review discusses recent progress in the role of ATP-binding cassette proteins ABCG5 and G8 in dietary sterol absorption, excretion and pathogenesis of cardiovascular disease. RECENT FINDINGS Identification of the genetic defect(s) underlying sitosterolemia has led to a renewed interest in the me...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/01.mol.0000083763.66245.18

    authors: Klett EL,Patel S

    更新日期:2003-08-01 00:00:00

  • Lipoprotein(a): more interesting than ever after 50 years.

    abstract:PURPOSE OF REVIEW:Lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease; we highlight the most recent research initiatives that have sought to define Lp(a)-dependent pathogenicity as well as pharmacologic approaches to lowering Lp(a). RECENT FINDINGS:Recent large-scale meta-analyses have confirmed elevate...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e32835111d8

    authors: Dubé JB,Boffa MB,Hegele RA,Koschinsky ML

    更新日期:2012-04-01 00:00:00

  • Niemann-Pick disease type C.

    abstract::Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann-Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has led to the recent cloning of the NPC1 gene on human chromosome 18, which is the major disease locus. Analysis ...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199804000-00009

    authors: Liscum L,Klansek JJ

    更新日期:1998-04-01 00:00:00

  • Update on cardiometabolic health effects of ω-3 fatty acids.

    abstract:PURPOSE OF REVIEW:The fish fatty acids eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) may promote cardiometabolic health. This review summarizes the results of recent meta-analyses of prospective studies on cardiovascular diseases, diabetes type 2 and markers of atherosclerosis and thrombosis. RECENT FINDI...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0000000000000041

    authors: Kromhout D,de Goede J

    更新日期:2014-02-01 00:00:00

  • The role of apolipoprotein A-I-containing lipoproteins in atherosclerosis.

    abstract::The inverse relationship between HDL and apolipoprotein A-I concentrations and the risk for premature atherosclerosis is well established, but the mechanism whereby apolipoprotein A-I offers protection is still somewhat elusive. Recent studies suggest that a specific subpopulation within the lipoprotein (AI) subclass ...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199410000-00007

    authors: Forte TM,McCall MR

    更新日期:1994-10-01 00:00:00

  • Inherited lipodystrophies and hypertriglyceridemia.

    abstract:PURPOSE OF REVIEW:Inherited lipodystrophies are rare autosomal recessive and dominant disorders characterized by selective, but variable, loss of adipose tissue. Marked hypertriglyceridemia is a common feature of these disorders and highlights the role of adipose tissue in lipid homeostasis. In the last decade, advance...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/MOL.0b013e32832d4a33

    authors: Simha V,Garg A

    更新日期:2009-08-01 00:00:00

  • Recent advances in elucidating the role of the microsomal triglyceride transfer protein in apolipoprotein B lipoprotein assembly.

    abstract::The microsomal triglyceride transfer protein is necessary for the assembly and secretion of lipoproteins containing apolipoprotein B. During the past year, significant progress has been made towards understanding the role of microsomal triglyceride transfer protein in lipoprotein assembly at both a cellular and molecu...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199706000-00002

    authors: Gordon DA

    更新日期:1997-06-01 00:00:00

  • Diabetic dyslipidaemia and coronary heart disease: new perspectives.

    abstract::Atherosclerotic macrovascular disease is the leading cause of both morbidity and mortality in non-insulin dependent diabetes mellitus. Endothelial dysfunction is a key, early and potentially reversible event in pathogenesis of atherosclerosis. Its occurrence in non-insulin dependent diabetes mellitus is well supported...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/00041433-199910000-00002

    authors: Evans M,Khan N,Rees A

    更新日期:1999-10-01 00:00:00

  • New insights into the biogenesis of human high-density lipoproteins.

    abstract:PURPOSE OF REVIEW:The interest for the human HDL system was recently revived by the identification of the ABCA1 as a critical component in the formation and maintenance of plasma HDL levels. The present review focuses on recent progress in our understanding of the basic mechanisms underlying HDL biogenesis pathways. R...

    journal_title:Current opinion in lipidology

    pub_type: 杂志文章,评审

    doi:10.1097/01.mol.0000226117.43178.7c

    authors: Krimbou L,Marcil M,Genest J

    更新日期:2006-06-01 00:00:00