(Q24616588)

C-5 sterol desaturase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Andrea Ballabio

8

0 references

Massimiliano Rossi

object named as

Massimiliano Rossi

3

1 reference

ORCID Public Data File 2021

author name string

Nicola Brunetti-Pierri

1

0 references

Gaetano Corso

2

0 references

Paola Ferrari

4

0 references

Fiorella Balli

5

0 references

Francesco Rivasi

6

0 references

Ida Annunziata

7

0 references

Antonio Dello Russo

9

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Generoso Andria

10

0 references

Giancarlo Parenti

American Journal of Human Genetics

11

0 references

language of work or name

English

0 references

publication date

October 2002

0 references

published in

0 references

volume

71

0 references

page(s)

952-8

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issue

4

0 references

cites work

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

1 reference

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

7 April 2017

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase

7 April 2017

1 reference

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A simple method for displaying the hydropathic character of a protein

7 April 2017

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Cloning, disruption and sequence of the gene encoding yeast C-5 sterol desaturase.

7 April 2017

1 reference

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

7 April 2017

1 reference

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Role of highly conserved residues in the reaction catalyzed by recombinant Delta7-sterol-C5(6)-desaturase studied by site-directed mutagenesis

7 April 2017

1 reference

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Eight histidine residues are catalytically essential in a membrane-associated iron enzyme, stearoyl-CoA desaturase, and are conserved in alkane hydroxylase and xylene monooxygenase

7 April 2017

1 reference

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Molecular cloning and structural analysis of human sterol C5 desaturase

7 April 2017

1 reference

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Inborn errors of cholesterol biosynthesis

27 September 2017

1 reference

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The Smith-Lemli-Opitz syndrome

27 September 2017

1 reference

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cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant

27 September 2017

1 reference

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RSH (so-called Smith-Lemli-Opitz) syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

Isolation and characterization of an Arabidopsis thaliana cDNA encoding a delta 7-sterol-C-5-desaturase by functional complementation of a defective yeast mutant

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

Deletion of the Candida glabrata ERG3 and ERG11 genes: effect on cell viability, cell growth, sterol composition, and antifungal susceptibility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

Cloning, sequencing, expression and allelic sequence diversity of ERG3 (C-5 sterol desaturase gene) in Candida albicans.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378549

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12189593

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12189593