(Q54566097)

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16 February 2020

title

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease (English)

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16 February 2020

1

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16 February 2020

Christopher A Wassif

2

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16 February 2020

Alexandria Colaco

3

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author name string

Andrea Dardis

4

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16 February 2020

Emyr Lloyd-Evans

5

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16 February 2020

Bruno Bembi

6

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16 February 2020

Forbes D Porter

7

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16 February 2020

publication date

1 January 2014

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Annual Review of Genomics and Human Genetics

16 February 2020

published in

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16 February 2020

volume

15

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16 February 2020

page(s)

173-194

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Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

16 February 2020

cites work

1 reference

12 December 2020

Localization of low density lipoprotein receptors on plasma membrane of normal human fibroblasts and their absence in cells from a familial hypercholesterolemia homozygote

1 reference

12 December 2020

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

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12 December 2020

Effects of clomiphene cis and trans isomers on sterol metabolism in the rat

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12 December 2020

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

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12 December 2020

The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production

1 reference

12 December 2020

The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease

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12 December 2020

Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders

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12 December 2020

ABC lipid transporters: extruders, flippases, or flopless activators?

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12 December 2020

Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1.

1 reference

12 December 2020

Special relationship between sterols and oxygen: were sterols an adaptation to aerobic life?

1 reference

12 December 2020

Clinical phenotype of desmosterolosis

1 reference

12 December 2020

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency

1 reference

12 December 2020

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts

1 reference

12 December 2020

Tangier disease: still more questions than answers

1 reference

12 December 2020

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

1 reference

12 December 2020

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

1 reference

12 December 2020

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

1 reference

12 December 2020

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

12 December 2020

Structural Basis of Sterol Binding by NPC2, a Lysosomal Protein Deficient in Niemann-Pick Type C2 Disease

1 reference

12 December 2020

Lipid rafts: heterogeneity on the high seas

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype

1 reference

12 December 2020

Cellular localization and trafficking of the human ABCA1 transporter

1 reference

12 December 2020

Neurosteroid biosynthesis and action during cerebellar development

1 reference

12 December 2020

Prosurvival effect of DHCR24/Seladin-1 in acute and chronic responses to oxidative stress

1 reference

12 December 2020

Diverse roles for the LDL receptor family

1 reference

12 December 2020

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

1 reference

12 December 2020

Regulation of ABCA1 functions by signaling pathways

1 reference

12 December 2020

Desmosterolosis: a new inborn error of cholesterol biosynthesis

1 reference

12 December 2020

Role of liver X receptors in cholesterol efflux and inflammatory signaling (review)

1 reference

12 December 2020

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Critical role for glycosphingolipids in Niemann-Pick disease type C.

1 reference

12 December 2020

Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal

1 reference

12 December 2020

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature

1 reference

12 December 2020

Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

ABCA1-dependent lipid efflux to apolipoprotein A-I mediates HDL particle formation and decreases VLDL secretion from murine hepatocytes

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12 December 2020

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

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12 December 2020

Sterol biosynthesis and prokaryotes-to-eukaryotes evolution

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12 December 2020

Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis

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12 December 2020

Functions of scavenger receptor class B, type I in atherosclerosis

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12 December 2020

The role of vesicular transport in ABCA1-dependent lipid efflux and its connection with NPC pathways

1 reference

12 December 2020

Regulation of the activity of the low density lipoprotein receptor in human fibroblasts

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis

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12 December 2020

Cholesterol accumulation by macrophages impairs phagosome maturation

1 reference

12 December 2020

Neurosteroid biosynthesis: enzymatic pathways and neuroendocrine regulation by neurotransmitters and neuropeptides

1 reference

12 December 2020

Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease.

1 reference

12 December 2020

Tangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults

1 reference

12 December 2020

Current concept of reverse cholesterol transport and novel strategy for atheroprotection

1 reference

12 December 2020

A role for sterol levels in oxygen sensing in Saccharomyces cerevisiae.

1 reference

12 December 2020

Niemann-Pick disease type C

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12 December 2020

ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein

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12 December 2020

Steroids, triterpenoids and molecular oxygen

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12 December 2020

Lipid rafts, caveolae and GPI-linked proteins

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12 December 2020

HE1/NPC2 status in human reproductive tract and ejaculated spermatozoa: consequence of vasectomy

1 reference

12 December 2020

Miglustat. Oxford GlycoSciences/Actelion.

1 reference

12 December 2020

Cholesterol metabolism in the brain

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12 December 2020

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

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12 December 2020

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

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12 December 2020

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

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12 December 2020

Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome

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12 December 2020

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

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12 December 2020

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

1 reference

12 December 2020

Tangier disease four decades of research: a reflection of the importance of HDL.

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12 December 2020

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

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12 December 2020

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

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12 December 2020

Functional interactions between sphingolipids and sterols in biological membranes regulating cell physiology

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12 December 2020

CNS synaptogenesis promoted by glia-derived cholesterol

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12 December 2020

Identification of HE1 as the second gene of Niemann-Pick C disease

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12 December 2020

THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE)

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12 December 2020

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

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12 December 2020

Sterols and sphingolipids: dynamic duo or partners in crime?

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12 December 2020

ABC proteins: key molecules for lipid homeostasis

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12 December 2020

Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis

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12 December 2020

The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3-beta-[2-(diethylamino)ethoxy]androst-5-en-17-one

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12 December 2020

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

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12 December 2020

Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences.

1 reference

12 December 2020

Cholesterol, an essential molecule: diverse roles involving cytochrome P450 enzymes.

1 reference

12 December 2020

Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis

1 reference

12 December 2020

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

1 reference

12 December 2020

Molecular mechanisms of endolysosomal Ca2+ signalling in health and disease

1 reference

12 December 2020

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

1 reference

12 December 2020

Pathogenic cascades in lysosomal disease-Why so complex?

1 reference

12 December 2020

NAADP mobilizes Ca(2+) from reserve granules, lysosome-related organelles, in sea urchin eggs

1 reference

12 December 2020

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

1 reference

12 December 2020

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

1 reference

12 December 2020

ABCA1 and ABCG1 or ABCG4 act sequentially to remove cellular cholesterol and generate cholesterol-rich HDL.

1 reference

12 December 2020

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

1 reference

12 December 2020

Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome

1 reference

12 December 2020

Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders

1 reference

12 December 2020

Lanosterol biosynthesis in the prokaryote Methylococcus capsulatus: insight into the evolution of sterol biosynthesis

1 reference

12 December 2020

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

1 reference

12 December 2020

Adventures with ABC-proteins: highly conserved ATP-dependent transporters

1 reference

12 December 2020

Tangier disease: epidemiology, pathophysiology, and management

1 reference

12 December 2020

Effect of sphingomyelin headgroup size on molecular properties and interactions with cholesterol

1 reference

12 December 2020

Cholesterol and its derivatives in Sonic Hedgehog signaling and cancer

1 reference

12 December 2020

Oxygen consumption by anaerobic Saccharomyces cerevisiae under enological conditions: effect on fermentation kinetics

1 reference

12 December 2020

Abnormal bile acids in the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease

1 reference

12 December 2020

SCAP is required for timely and proper myelin membrane synthesis

1 reference

12 December 2020

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA

1 reference

12 December 2020

The natural history of Niemann-Pick disease type C in the UK.

1 reference

12 December 2020

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

1 reference

12 December 2020

Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred

1 reference

12 December 2020

Biological transformations of steroidal compounds: a review

1 reference

12 December 2020

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

1 reference

12 December 2020

Hepatobiliary cholesterol transport is not impaired in Abca1-null mice lacking HDL

1 reference

12 December 2020

Role of the coated endocytic vesicle in the uptake of receptor-bound low density lipoprotein in human fibroblasts

1 reference

12 December 2020

Lipid rafts: a signalling platform linking lipoprotein metabolism to atherogenesis

1 reference

12 December 2020

Membrane topology of human ABC proteins.

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12 December 2020

Glial lipoproteins stimulate axon growth of central nervous system neurons in compartmented cultures

1 reference

12 December 2020

NPC1 and NPC2 Regulate Cellular Cholesterol Homeostasis through Generation of Low Density Lipoprotein Cholesterol-derived Oxysterols

1 reference

12 December 2020

Cell cholesterol homeostasis: Mediation by active cholesterol

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12 December 2020

Cholesterol interactions with phospholipids in membranes

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12 December 2020

Outsourcing in the brain: do neurons depend on cholesterol delivery by astrocytes?

1 reference

12 December 2020

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

1 reference

12 December 2020

Biosynthesis of cholesterol and other sterols

1 reference

12 December 2020

The mechanisms of Hedgehog signalling and its roles in development and disease

1 reference

12 December 2020

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Fifty years of advances in bile acid synthesis and metabolism

1 reference

12 December 2020

Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism

1 reference

12 December 2020

Malformation syndromes caused by disorders of cholesterol synthesis

1 reference

12 December 2020

Cholesterol for synthesis of myelin is made locally, not imported into brain

1 reference

12 December 2020

Lipid rafts: elusive or illusive?

1 reference

12 December 2020

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

1 reference

12 December 2020

Substrate reduction therapy

1 reference

12 December 2020

Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.

1 reference

12 December 2020

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

1 reference

12 December 2020

MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein

1 reference

12 December 2020

X-Linked dominant disorders of cholesterol biosynthesis in man and mouse

1 reference

12 December 2020

Structural pathways for macromolecular and cellular transport across the blood-brain barrier during inflammatory conditions. Review

1 reference

12 December 2020

From gallstones to genes: two hundred years of sterol research. A tribute to George J. Schroepfer Jr.

1 reference

12 December 2020

Principles of bioactive lipid signalling: lessons from sphingolipids

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

1 reference

12 December 2020

SREBP pathway responds to sterols and functions as an oxygen sensor in fission yeast

1 reference

12 December 2020

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease

1 reference

12 December 2020

Regulation of cholesterol homeostasis

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12 December 2020

10.1146/ANNUREV-GENOM-091212-153412

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25184529%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25184529%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

25184529

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