Defects of cholesterol biosynthesis (Q36550790)

14 August 2017

1 reference

title

Defects of cholesterol biosynthesis (English)

1 reference

14 August 2017

Hans R Waterham

1

1 reference

PubMed ID

16876788

14 August 2017

language of work or name

English

0 references

publication date

20 July 2006

1 reference

14 August 2017

1 reference

14 August 2017

580

1 reference

14 August 2017

23

1 reference

14 August 2017

5442-5449

1 reference

Regulation of the mevalonate pathway

14 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Inborn errors of sterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Membrane-bound enzymes of cholesterol synthesis from lanosterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Central role of peroxisomes in isoprenoid biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Mevalonate kinase is a cytosolic enzyme in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Biochemistry of mammalian peroxisomes revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

The Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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/10.1016%2FJ.FEBSLET.2006.07.027

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Protein sensors for membrane sterols

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

The SREBP pathway--insights from Insigs and insects

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Cholesterol and 25-hydroxycholesterol inhibit activation of SREBPs by different mechanisms, both involving SCAP and Insigs

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Insig-dependent ubiquitination and degradation of mammalian 3-hydroxy-3-methylglutaryl-CoA reductase stimulated by sterols and geranylgeraniol

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Insig-mediated degradation of HMG CoA reductase stimulated by lanosterol, an intermediate in the synthesis of cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Sterols and isoprenoids: signaling molecules derived from the cholesterol biosynthetic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Direct binding of cholesterol to the purified membrane region of SCAP: mechanism for a sterol-sensing domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

The role of cholesterol in Shh signaling and teratogen-induced holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Association of sterol- and glycosylphosphatidylinositol-linked proteins with Drosophila raft lipid microdomains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid/sterol domains (rafts). Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, a

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

The role of seladin-1/DHCR24 in cholesterol biosynthesis, APP processing and Abeta generation in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

The origins and roles of cholesterol and fatty acids in the fetus

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

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/10.1016%2FJ.FEBSLET.2006.07.027

Early embryonic lethality caused by targeted disruption of the 3-hydroxy-3-methylglutaryl-CoA reductase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Generation of viable cholesterol-free mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

Inherited disorders of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.027

10.1016/J.FEBSLET.2006.07.027

21 January 2018

Identifiers

DOI

1 reference

14 August 2017

1 reference

PubMed ID

16876788