Central role of peroxisomes in isoprenoid biosynthesis

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The metabolic and molecular bases of inherited disease

2001 • 6,883 citations

Regulation of the mevalonate pathway

1990 • 5,282 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Regulated Intramembrane Proteolysis

2000 • 1,314 citations

A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood

1999 • 1,311 citations

How Cells Handle Cholesterol

2000 • 1,230 citations

Biogenesis of Peroxisomes

1985 • 1,108 citations

Role of liver in the maintenance of cholesterol and low density lipoprotein homeostasis in different animal species, including humans

1993 • 880 citations

Neurosteroids: Biosynthesis and Function of These Novel Neuromodulators

2000 • 807 citations

A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase.

1991 • 629 citations

Normalization and subtraction: two approaches to facilitate gene discovery.

1996 • 542 citations

Defective forebrain development in mice lacking gp330/megalin.

1996 • 485 citations

Identification of a peroxisomal targeting signal at the carboxy terminus of firefly luciferase.

1987 • 481 citations

The Smith-Lemli-Opitz syndrome

2000 • 469 citations

Sterol synthesis in vivo in 18 tissues of the squirrel monkey, guinea pig, rabbit, hamster, and rat

1983 • 414 citations

An oligomeric protein is imported into peroxisomes in vivo.

1994 • 340 citations

Peroxisome biogenesis disorders

2000 • 305 citations

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

1997 • 301 citations

Cholesterol for Synthesis of Myelin Is Made Locally, Not Imported into Brain

1995 • 290 citations

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

1993 • 284 citations

A mouse model for Zellweger syndrome

1997 • 271 citations

Import of stably folded proteins into peroxisomes.

1995 • 270 citations

Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant

1991 • 250 citations

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1995 • 246 citations

Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata

1999 • 240 citations

The Human Peroxisomal Targeting Signal Receptor, Pex5p, Is Translocated into the Peroxisomal Matrix and Recycled to the Cytosol

2001 • 237 citations

Import of Peroxisomal Matrix and Membrane Proteins

2000 • 233 citations

Saccharomyces cerevisiae contains two functional genes encoding 3-hydroxy-3-methylglutaryl-coenzyme A reductase.

1986 • 231 citations

Cholesterol in signal transduction

2000 • 223 citations

Sterol Regulatory Element-Binding Proteins Induce an Entire Pathway of Cholesterol Synthesis

2001 • 210 citations

Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis

1998 • 200 citations

How proteins penetrate peroxisomes

1995 • 198 citations

Role of the low density lipoprotein receptor in the flux of cholesterol through the plasma and across the tissues of the mouse.

1995 • 189 citations

Sterols and Bile Acids

1985 • 189 citations

Arabidopsis thaliana contains two differentially expressed 3-hydroxy-3-methylglutaryl-CoA reductase genes, which encode microsomal forms of the enzyme.

1994 • 186 citations

Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.

1995 • 184 citations

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

1982 • 177 citations

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

2001 • 165 citations

3-Hydroxy-3-methylglutaryl-coenzyme A reductase is present in peroxisomes in normal rat liver cells.

1985 • 158 citations

Analysis of the Carboxyl-terminal Peroxisomal Targeting Signal 1 in a Homologous Context in Saccharomyces cerevisiae

1996 • 158 citations

Characterization of an Acyl-CoA Thioesterase That Functions as a Major Regulator of Peroxisomal Lipid Metabolism

2002 • 155 citations

The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase

1999 • 154 citations

Targeted Deletion of the PEX2 Peroxisome Assembly Gene in Mice Provides a Model for Zellweger Syndrome, a Human Neuronal Migration Disorder

1997 • 152 citations

7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

2001 • 151 citations

Oilseed isocitrate lyases lacking their essential type 1 peroxisomal targeting signal are piggybacked to glyoxysomes.

1997 • 151 citations

7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

2001 • 151 citations

Mutational analysis of the N-terminal topogenic signal of watermelon glyoxysomal malate dehydrogenase using the heterologous host Hansenula polymorpha.

1994 • 149 citations

3-Hydroxy-3-methylglutaryl coenzyme A reductase localization in rat liver peroxisomes and microsomes of control and cholestyramine-treated animals: quantitative biochemical and immunoelectron microscopical analyses.

1986 • 147 citations

Role of cholesterol in embryonic development

2000 • 143 citations

Import of proteins into peroxisomes

1999 • 137 citations

Cholesterol metabolism and embryogenesis

1998 • 134 citations

Infantile Refsum disease: an inherited peroxisomal disorder

1987 • 131 citations

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

1998 • 126 citations

Lipid metabolism in peroxisomes in relation to human disease

1998 • 123 citations

Characterization of the signal peptide at the amino terminus of the rat peroxisomal 3-ketoacyl-CoA thiolase precursor.

1994 • 121 citations

Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders

1995 • 120 citations

Inborn Errors of Cholesterol Biosynthesis

2006 • 119 citations

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome

2000 • 118 citations

Brain does not utilize low density lipoprotein-cholesterol during fetal and neonatal development in the sheep

1996 • 117 citations

Inborn Errors of Cholesterol Biosynthesis

2000 • 115 citations

Alkyl-Dihydroxyacetonephosphate Synthase

1998 • 114 citations

Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon–carbon bond cleavage during α-oxidation of 3-methyl-branched fatty acids

1999 • 113 citations

Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog

1997 • 112 citations

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

1992 • 110 citations

Cholesterol modification of proteins

2000 • 108 citations

Sources of cholesterol during development of the rat fetus and fetal organs

1997 • 107 citations

Farnesyl-diphosphate synthase is localized in peroxisomes.

1994 • 107 citations

Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans

2000 • 104 citations

Isolation and sequence of the human farnesyl pyrophosphate synthetase cDNA. Coordinate regulation of the mRNAs for farnesyl pyrophosphate synthetase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, and 3-hydroxy-3-methylglutaryl coenzyme A synthase by phorbol ester.

1990 • 100 citations

Genotype–Phenotype Correlations in Disorders of Peroxisome Biogenesis

1999 • 98 citations

Cholesterol synthesis in vivo and in vitro in the WHHL rabbit, an animal with defective low density lipoprotein receptors

1983 • 97 citations

Compartmentalization of Cholesterol Biosynthesis

1996 • 94 citations

Rat liver peroxisomes catalyze the initial step in cholesterol synthesis. The condensation of acetyl-CoA units into acetoacetyl-CoA.

1990 • 93 citations

Cell Compartmentalization of Cholesterol Biosynthesis^a

1996 • 91 citations

Distinction between peroxisomal bifunctional enzyme and acyl‐CoA oxidase deficiencies

1995 • 89 citations

Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders.

1994 • 88 citations

Microperoxisomes in the central nervous system of the postnatal rat

1978 • 86 citations

Rat mitochondrial and cytosolic 3-hydroxy-3-methylglutaryl-CoA synthases are encoded by two different genes.

1990 • 85 citations

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

1985 • 81 citations

Protein translocation machineries of peroxisomes

2001 • 79 citations

The LDL receptor gene family: signaling functions during development

2001 • 79 citations

Cholesterol and Myelin

1997 • 78 citations

Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver.

1990 • 72 citations

Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans

2001 • 71 citations

The pathology of peroxisomal disorders with pathogenetic considerations.

1995 • 71 citations

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

1990 • 69 citations

Mutational analyses of a type 2 peroxisomal targeting signal that is capable of directing oligomeric protein import into tobacco BY‐2 glyoxysomes

1998 • 69 citations

PRESIDENTIAL ADDRESS

1995 • 65 citations

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

1999 • 64 citations

Presence of individual enzymes of cholesterol biosynthesis in rat liver peroxisomes

1990 • 63 citations

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome

1997 • 63 citations

Subcellular localization of squalene synthase in rat hepatic cells. Biochemical and immunochemical evidence

1993 • 62 citations

Fetal cerebrohepatorenal (Zellweger) syndrome: Dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses

1985 • 62 citations

Molecular Cloning and Expression of the cDNAs Encoding Human and Yeast Mevalonate Pyrophosphate Decarboxylase

1996 • 61 citations

Identification and Regulation of a Rat Liver cDNA Encoding Farnesyl Pyrophosphate Synthetase

1989 • 61 citations

Genetic Defects in Postsqualene Cholesterol Biosynthesis

2000 • 61 citations

Identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes: AA-CoA thiolase, HMG-CoA synthase, MPPD, and FPP synthase

2000 • 61 citations

3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.

1990 • 61 citations

Postnatal Development and Isolation of Peroxisomes from Brain

1991 • 60 citations

Plasmalogens of the nervous system. I. Deposition in developing rat brain and incorporation of C14 isotope from acetate and palmitate into the α,β-unsaturated ether chain

1959 • 60 citations

Mevalonate kinase is localized in rat liver peroxisomes.

1992 • 59 citations

Neuronal migration disorder in Zellweger mice is secondary to glutamate receptor dysfunction

2000 • 59 citations

The Peroxisome Deficient PEX2 Zellweger Mouse: Pathologic and Biochemical Correlates of Lipid Dysfunction

2001 • 58 citations

Cloning and Subcellular Localization of Hamster and Rat Isopentenyl Diphosphate Dimethylallyl Diphosphate Isomerase

1997 • 57 citations

Metabolism of acetyl-CoA by isolated peroxisomal fractions: formation of acetate and acetoacetyl-CoA.

1991 • 55 citations

Δ3,5-Δ2,4-Dienoyl-CoA Isomerase from Rat Liver

1998 • 51 citations

Caveolae and signaling

2001 • 50 citations

THE DESMOSTEROL REDUCTASE ACTIVITY OF RAT BRAIN DURING DEVELOPMENT¹

1971 • 46 citations

Identification of Pristanal Dehydrogenase Activity in Peroxisomes: Conclusive Evidence That the Complete Phytanic Acid α-Oxidation Pathway Is Localized in Peroxisomes

2001 • 46 citations

Decreased Plasma Ubiquinone-10 Concentration in Patients with Mevalonate Kinase Deficiency

1993 • 45 citations

Normal cholesterol synthesis in human cells requires functional peroxisomes

1991 • 44 citations

Molecular Cloning of Human Phosphomevalonate Kinase and Identification of a Consensus Peroxisomal Targeting Sequence

1996 • 41 citations

The Peroxisome in Retrospect

1996 • 39 citations

Molecular Cloning and Nucleotide Sequence of Complementary DNA for Human Hepatic Cytosolic Acetoacetyl-Coenzyme A Thiolase

1994 • 37 citations

Purification of brain peroxisomes and localization of 3‐hydroxy‐3‐methylglutaryl coenzyme A reductase

2001 • 34 citations

Teratogenic Effect of AY 9944 in Rats: Importance of the Day of Administration and Maternal Plasma Cholesterol Level

1984 • 32 citations

A Human Promyelocyte mRNA Transiently Induced by TPA Is Homologous to Yeast IPP Isomerase

1994 • 31 citations

Characterization of UT2 Cells

1997 • 31 citations

Characterization of phosphomevalonate kinase: chromosomal localization, regulation, and subcellular targeting

1999 • 30 citations

Differential binding of proteins to peroxisomes in rat hepatoma cells: unique association of enzymes involved in isoprenoid metabolism

1999 • 29 citations

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

1999 • 29 citations

Nucleotide sequence of a rat liver cDNA encoding the Cytosolic 3-hydroxy-3-methylglutaryl coenzyme A synthase

1990 • 26 citations

Characterization of the hydroxymethylglutaryl-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria

1996 • 26 citations

Characterization of Peroxisomal 3-Hydroxy-3-methylglutaryl Coenzyme A Reductase in UT2* Cells: Sterol Biosynthesis, Phosphorylation, Degradation, and Statin Inhibition

1999 • 26 citations

Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report

1990 • 25 citations

Increased cholesterol synthesis in Chinese hamster ovary cells deficient in peroxisomes

1992 • 24 citations

Reduced cellular cholesterol content in peroxisome-deficient fibroblasts is associated with impaired uptake of the patient's low density lipoprotein and with reduced cholesterol synthesis.

1995 • 24 citations

Synergistic Activation of Transcription by the Mutant and Wild-type Minimal Transcriptional Activation Domain of VP16

1996 • 24 citations

Differential Deficiency of Mevalonate Kinase and Phosphomevalonate Kinase in Patients with Distinct Defects in Peroxisome Biogenesis: Evidence for a Major Role of Peroxisomes in Cholesterol Biosynthesis

1998 • 24 citations

Regulatory Adaptation of Isoprenoid Biosynthesis and the LDL Receptor Pathway in Fibroblasts from Patients with Mevalonate Kinase Deficiency

1997 • 23 citations

Amplification and direct sequencing of a cDNA encoding human cytosolic 3-hydroxy-3-methylglutaryl-coenzyme A synthase

1992 • 22 citations

Isoprenoid biosynthesis is not compromised in a Zellweger syndrome mouse model

2001 • 21 citations

Purification of Rat Liver Mevalonate Pyrophosphate Decarboxylase

1996 • 20 citations

Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin

1995 • 20 citations

Analysis of isoprenoid biosynthesis in peroxisomal-deficient Pex2 CHO cell lines

1998 • 18 citations

Infantile Refsum Disease

1992 • 17 citations

Cholesterol biosynthesis in Zellweger syndrome: Normal activity of mevalonate kinase, mevalonate‐5′‐pyrophosphate decarboxylase and IPP‐isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver

1996 • 16 citations

Regulation and Control in Complex, Dynamic Metabolic Systems: Experimental Application of the Top-Down Approaches of Metabolic Control Analysis to Fatty Acid Oxidation and Ketogenesis

1996 • 16 citations

Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

1992 • 14 citations

Plasma lipoproteins and monocyte‐macrophages in a peroxisome‐deficient system: Study of a patient with infantile refsum disease

1991 • 13 citations

Subcellular localization of squalene synthase in human hepatoma cell line Hep G2

1992 • 13 citations

Peroxisomal cholesterol synthesis in vivo: Accumulation of 4-methyl intermediate sterols after aminotriazole inhibition of cholesterol synthesis

1994 • 11 citations

Cholesterol metabolism in cells with different peroxisomal defects

1996 • 7 citations

Near normal levels of isoprenoid lipids in severe mevalonic aciduria

1988 • 7 citations

A novel family of longer chain length dolichols present in oleate-induced yeast Saccharomyces cerevisiae

2001 • 5 citations