(Q74185803)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10947201%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10947201%20AND%20SRC:MED&resulttype=core&format=json

Smith-Lemli-Opitz syndrome

9 November 2019

main subject

1 reference

M Honda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10947201%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

G S Tint

2

1 reference

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9 November 2019

A Honda

3

1 reference

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9 November 2019

G Salen

4

1 reference

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9 November 2019

S Shefer

5

1 reference

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9 November 2019

A K Batta

6

1 reference

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9 November 2019

Y Matsuzaki

7

1 reference

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9 November 2019

N Tanaka

8

1 reference

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9 November 2019

publication date

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10947201%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10947201%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10947201%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

5

1 reference

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9 November 2019

page(s)

464-474

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1005660130109

9 November 2019

exact match

0 references

cites work

Regulation of the mevalonate pathway

1 reference

12 December 2020

SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis

1 reference

12 December 2020

Down-regulation of cholesterol biosynthesis in sitosterolemia: diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol delta7-reductase in liver and mononucle

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Apoprotein E phenotype determines serum cholesterol in infants during both high-cholesterol breast feeding and low-cholesterol formula feeding

1 reference

12 December 2020

Multivalent control of 3-hydroxy-3-methylglutaryl coenzyme A reductase. Mevalonate-derived product inhibits translation of mRNA and accelerates degradation of enzyme.

1 reference

12 December 2020

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

1 reference

12 December 2020

Intracellular localization of the 3-hydroxy-3-methylglutaryl coenzme A cycle enzymes in liver. Separate cytoplasmic and mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A generating systems for cholesterogenesis and ketogenesis

1 reference

12 December 2020

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

12 December 2020

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

1 reference

12 December 2020

Simultaneous determination of mevalonate and 7 alpha-hydroxycholesterol in human plasma by gas chromatography-mass spectrometry as indices of cholesterol and bile acid biosynthesis

1 reference

12 December 2020

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

1 reference

12 December 2020

Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome

1 reference

12 December 2020

Overproduction of cholesterol and fatty acids causes massive liver enlargement in transgenic mice expressing truncated SREBP-1a

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

1 reference

12 December 2020

Molecular cloning and functional analysis of the promoter of the human squalene synthase gene

1 reference

12 December 2020

Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth

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

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

12 December 2020

3-Methylglutaconic Acidemia in Smith-Lemli-Opitz Syndrome

1 reference

12 December 2020

Inactivation and activation of various membranal enzymes of the cholesterol biosynthetic pathway by digitonin

1 reference

12 December 2020

3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium

1 reference

12 December 2020

Synthesis of [3 alpha-3H]7-dehydrocholesterol via stable tritiated 4-phenyl-1,2,4-triazoline-3,5-dione derivative

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

Squalene synthetase activity in human fibroblasts: Regulation via the low density lipoprotein receptor

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis

1 reference

12 December 2020

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

1 reference

12 December 2020

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

1 reference

12 December 2020

Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents

1 reference

12 December 2020

Solubilization, purification, and characterization of a truncated form of rat hepatic squalene synthetase

1 reference

12 December 2020

Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts

1 reference

12 December 2020