7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome (Q28354262)

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

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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

17

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11 November 2019

G S Tint

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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

6

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11 November 2019

905-915

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11 November 2019

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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

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

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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

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20 March 2017

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

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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

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20 March 2017

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

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20 March 2017

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

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

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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

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

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

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29 September 2017

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

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29 September 2017

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

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29 September 2017

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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

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29 September 2017

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

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2 June 2018

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2 June 2018

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2 June 2018

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

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2 June 2018

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

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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

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2 June 2018

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

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2 June 2018

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

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2 June 2018

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

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2 June 2018

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

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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.

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2 June 2018

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

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2 June 2018

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

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2 June 2018

Preparation of delipidized serum protein for use in cell culture systems

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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.

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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.

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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.

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27 November 2018

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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.

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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

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27 November 2018

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

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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

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12 December 2020

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

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12 December 2020

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

1 reference

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12 December 2020

based on heuristic

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Molecular genetic analysis of human folate receptors in neural tube defects

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12 December 2020

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

1 reference

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12 December 2020

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

1 reference

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

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Desmosterolosis: a new inborn error of cholesterol biosynthesis

1 reference

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12 December 2020

based on heuristic

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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

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12 December 2020

based on heuristic

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Compensatory Responses to Inhibition of Hepatic Squalene Synthase

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12 December 2020

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

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

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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

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Europe PubMed Central

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11 November 2019

10.1172/JCI200112103

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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11 November 2019

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11 November 2019

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