Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments. (Q37830049)

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20 January 2020

review article

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title

Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments (English)

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20 January 2020

3

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20 January 2020

author name string

Simon Horvat

series ordinal

1

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20 January 2020

Jim McWhir

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2

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language of work or name

English

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publication date

1 February 2011

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20 January 2020

published in

Drug Metabolism Reviews

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20 January 2020

volume

43

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issue

1

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page(s)

69-90

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Characterization of peroxisomal 3-hydroxy-3-methylglutaryl coenzyme A reductase in UT2 cells: sterol biosynthesis, phosphorylation, degradation, and statin inhibition

20 January 2020

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Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency

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Prolactin receptor-associated protein/17beta-hydroxysteroid dehydrogenase type 7 gene (Hsd17b7) plays a crucial role in embryonic development and fetal survival

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Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase

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Trafficking, development and hedgehog

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

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Toremifene improves lipid profiles in men receiving androgen-deprivation therapy for prostate cancer: interim analysis of a multicenter phase III study

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Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse

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Pregnane X receptor prevents hepatorenal toxicity from cholesterol metabolites

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21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Selective inhibition of mammalian lanosterol 14 alpha-demethylase by RS-21607 in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Prenatal exposure to HMG-CoA reductase inhibitors: effects on fetal and neonatal outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Calcium increase in mouse skeletal muscles by triparanol: a drug to induce myotonic dystrophy-like clinical manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Effects of toremifene and tamoxifen on lipid profiles in post-menopausal patients with early breast cancer: interim results from a Japanese phase III trial

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Embryonic lethality and defective neural tube closure in mice lacking squalene synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Experimental model of escape phenomenon in hamsters and the effectiveness of YM-53601 in the model

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Hedgehog: functions and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Inherited disorders of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Defects of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Generation of viable cholesterol-free mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Transfer of maternal cholesterol to embryo and fetus in pregnant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F03602532.2010.540580

10.3109/03602532.2010.540580

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21247357%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference