(Q28354262)

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

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11 November 2019

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

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11 November 2019

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Hartmut H. Glossmann

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11 November 2019

Shailendra B. Patel

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11 November 2019

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B U Fitzky

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11 November 2019

F F Moebius

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11 November 2019

H Asaoka

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11 November 2019

H Waage-Baudet

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11 November 2019

L Xu

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11 November 2019

G Xu

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11 November 2019

N Maeda

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11 November 2019

K Kluckman

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11 November 2019

S Hiller

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11 November 2019

H Yu

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11 November 2019

A K Batta

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11 November 2019

S Shefer

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11 November 2019

T Chen

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11 November 2019

G Salen

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11 November 2019

K Sulik

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11 November 2019

R D Simoni

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11 November 2019

G C Ness

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11 November 2019

G S Tint

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11 November 2019

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1 September 2001

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11 November 2019

Journal of Clinical Investigation

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11 November 2019

108

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11 November 2019

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11 November 2019

905-915

1 reference

Europe PubMed Central

PMC publication ID

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11 November 2019

Protein measurement with the Folin phenol reagent

1 reference

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20 March 2017

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

1 reference

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20 March 2017

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

1 reference

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20 March 2017

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

1 reference

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20 March 2017

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

1 reference

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20 March 2017

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

1 reference

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20 March 2017

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

1 reference

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20 March 2017

Molecular cloning and expression of the human delta7-sterol reductase

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20 March 2017

Cholesterol modification of hedgehog signaling proteins in animal development

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20 March 2017

Effect of squalene synthase inhibition on the expression of hepatic cholesterol biosynthetic enzymes, LDL receptor, and cholesterol 7 alpha hydroxylase

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20 March 2017

Knockout of the mouse apolipoprotein B gene results in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in heterozygotes

1 reference

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20 March 2017

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

20 March 2017

Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein

1 reference

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20 March 2017

Sonic hedgehog regulates branching morphogenesis in the mammalian lung

1 reference

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20 March 2017

HedgehogandBmpGenes Are Coexpressed at Many Diverse Sites of Cell–Cell Interaction in the Mouse Embryo

1 reference

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7 April 2017

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

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29 September 2017

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

1 reference

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29 September 2017

Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

29 September 2017

The Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

29 September 2017

Regulation of HMG-CoA reductase degradation requires the P-type ATPase Cod1p/Spf1p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

29 September 2017

Sterols regulate cycling of SREBP cleavage-activating protein (SCAP) between endoplasmic reticulum and Golgi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

29 September 2017

The LDL receptor gene family, apolipoprotein B and cholesterol in embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

29 September 2017

The teratogenic Veratrum alkaloid cyclopamine inhibits sonic hedgehog signal transduction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

29 September 2017

Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

1 reference

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29 September 2017

Familial hypobetalipoproteinemia.

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29 September 2017

Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene

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29 September 2017

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

1 reference

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29 September 2017

Partial deletion of membrane-bound domain of 3-hydroxy-3-methylglutaryl coenzyme A reductase eliminates sterol-enhanced degradation and prevents formation of crystalloid endoplasmic reticulum

1 reference

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29 September 2017

A human membrane-associated folate binding protein is anchored by a glycosyl-phosphatidylinositol tail

1 reference

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29 September 2017

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis

1 reference

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29 September 2017

7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts.

1 reference

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2 June 2018

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

1 reference

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2 June 2018

The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.

1 reference

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2 June 2018

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

1 reference

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2 June 2018

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

1 reference

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2 June 2018

Low density lipoprotein (LDL) cholesterol is converted to 27-hydroxycholesterol in human fibroblasts. Evidence that 27-hydroxycholesterol can be an important intracellular mediator between LDL and the suppression of cholesterol production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

Teratogenic Effect of an Inhibitor of Cholesterol Synthesis (AY 9944) in Rats: Correlation with Maternal Cholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

Characteristics of rat liver microsomal 3-hydroxy-3-methylglutaryl-coenzyme A reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

The membrane domain of 3-hydroxy-3-methylglutaryl-coenzyme A reductase confers endoplasmic reticulum localization and sterol-regulated degradation onto beta-galactosidase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

Involvement of calcium in the mevalonate-accelerated degradation of 3-hydroxy-3-methylglutaryl-CoA reductase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

Distinct sterol and nonsterol signals for the regulated degradation of 3-hydroxy-3-methylglutaryl-CoA reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

2 June 2018

Preparation of delipidized serum protein for use in cell culture systems

1 reference

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2 June 2018

Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production.

1 reference

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27 November 2018

Degradation of HMG-CoA reductase in vitro. Cleavage in the membrane domain by a membrane-bound cysteine protease.

1 reference

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27 November 2018

Dietary cholesterol regulates hepatic 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression in rats primarily at the level of translation

1 reference

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27 November 2018

Teratogen-mediated inhibition of target tissue response to Shh signaling

1 reference

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27 November 2018

Non-sterol compounds that regulate cholesterogenesis. Analogues of farnesyl pyrophosphate reduce 3-hydroxy-3-methylglutaryl-coenzyme A reductase levels.

1 reference

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27 November 2018

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200927

27 November 2018

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

1 reference

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27 November 2018

The effect of partial replacements of membrane cholesterol by other steroids on the osmotic fragility and glycerol permeability of erythrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thyroid hormone rapidly induces hepatic LDL receptor mRNA levels in hypophysectomized rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic analysis of human folate receptors in neural tube defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[TRANSFER AND SYNTHESIS OF CHOLESTEROL IN RATS DURING THEIR GROWTH]

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Desmosterolosis: a new inborn error of cholesterol biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compensatory Responses to Inhibition of Hepatic Squalene Synthase

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Branching morphogenesis of the lung: new models for a classical problem

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitation and localization of ENaC subunit expression in fetal, newborn, and adult mouse lung

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cyclosporin-induced dyslipoproteinemia is associated with selective activation of SREBP-2

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal high density lipoproteins affect fetal mass and extra-embryonic fetal tissue sterol metabolism in the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11560960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI12103

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11560960%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

10.1172/JCI200112103

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11560960%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11560960%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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