SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder (Q24338882)

GeneDB

enoyl-CoA reductase, putative

5 February 2019

1 reference

GeneDB

3-oxo-5-alpha-steroid 4-dehydrogenase, putative (fragment)

5 February 2019

0 references

3-oxo-5-alpha-steroid 4-dehydrogenase, putative

0 references

3-oxo-5-alpha-steroid 4-dehydrogenase, putative

0 references

dolichol (N)

1 reference

Steroid 5 alpha-reductase 3

ChEBI release 2020-05-28

ChEBI ID

16091

1 reference

dolichol metabolic process

1 reference

Steroid 5 alpha-reductase 3

1 reference

Putative polyprenol reductase YIL049W

1 reference

1 reference

19

0 references

Lihadh Al-Gazali

24

0 references

Hans Hombauer

Hans Hombauer

8

0 references

Vincent Cantagrel

Vincent Cantagrel

1

0 references

Stephanie L. Bielas

Stephanie L Bielas

6

0 references

Bassam R. Ali

Bassam R Ali

16

0 references

Hudson H. Freeze

Hudson H Freeze

22

0 references

William B. Dobyns

William B Dobyns

17

0 references

Jolanta Sykut-Cegielska

13

Jolanta Sykut-Cegielska

0 references

Ewa Świeżewska

10

Ewa Swiezewska

0 references

Joseph G Gleeson

25

Joseph G Gleeson

0 references

Jennifer L Silhavy

5

Jennifer L Silhavy

0 references

Dirk J Lefeber

2

Dirk J Lefeber

0 references

Dominika Swistun

15

Dominika Swistun

0 references

Arjan P M de Brouwer

11

Arjan P De Brouwer

0 references

Ron A. Wevers

20

Ron A Wevers

0 references

Ludwig Lehle

7

Ludwig Lehle

0 references

Eva Morava

23

Eva Morava

0 references

author name string

Bobby G Ng

3

0 references

Ziqiang Guan

4

0 references

Maciej Adamowicz

9

0 references

Peter Blümel

12

0 references

Scott Houliston

14

0 references

Dusica Babovic-Vuksanovic

18

0 references

Christian R H Raetz

Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms

21

0 references

language of work or name

English

0 references

publication date

23 July 2010

0 references

published in

Cell

0 references

volume

142

0 references

issue

2

0 references

page(s)

203-17

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig

19 March 2017

1 reference

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Tsc13p is required for fatty acid elongation and localizes to a novel structure at the nuclear-vacuolar interface in Saccharomyces cerevisiae

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Dolichol monophosphate glucose: an intermediate in glucose transfer in liver

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

The biological role of dolichol

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

19 March 2017

1 reference

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A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

19 March 2017

1 reference

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Dissection of filamentous growth by transposon mutagenesis in Saccharomyces cerevisiae

19 March 2017

1 reference

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The efficiency of N-linked glycosylation of bovine DNase I depends on the Asn-Xaa-Ser/Thr sequence and the tissue of origin

19 March 2017

1 reference

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A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Solubilization and Characterization of the Initial Enzymes of the Dolichol Pathway from Yeast

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Phylogeny.fr: robust phylogenetic analysis for the non-specialist

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Intracellular functions of N-linked glycans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

An overview on 5alpha-reductase inhibitors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

CDG nomenclature: time for a change!

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

RFT1 deficiency in three novel CDG patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Structure and synthesis of polyisoprenoids used in N-glycosylation across the three domains of life

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Analysis of ubiquinones, dolichols, and dolichol diphosphate-oligosaccharides by liquid chromatography-electrospray ionization-mass spectrometry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Congenital disorders of glycosylation: a rapidly expanding disease family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Genetic defects in the human glycome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

The congenital disorders of glycosylation: a multifaceted group of syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

The molecular basis of coupling of translocation and N-glycosylation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Polyisoprenoids: structure, biosynthesis and function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Congenital disorders of glycosylation: genetic model systems lead the way.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Male and female isoenzymes of steroid 5alpha-reductase.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Formation of dolichol from dehydrodolichol is catalyzed by NADPH-dependent reductase localized in microsomes of rat liver.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Steroid 5 alpha-reductase: two genes/two enzymes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Nucleotide sequence of the triose phosphate isomerase gene of Saccharomyces cerevisiae.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Distribution, metabolism and function of dolichol and polyprenols

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Carbohydrate Moiety of Carboxypeptidase Y and Perturbation of Its Biosynthesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Detection of hypo-N-glycosylation using mass spectrometry of transferrin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

What syndrome is this? CHIME syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

High survival of mouse embryos after rapid freezing and thawing inside plastic straws with 1-2 propanediol as cryoprotectant

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2940322

Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition

29 November 2018

1 reference

12 December 2020

Electrospray ionization mass spectrometry analysis of polyisoprenoid alcohols via Li cationization

1 reference

12 December 2020

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

1 reference

12 December 2020

Enzymatic formation of dehydrodolichal and dolichal, new products related to yeast dolichol biosynthesis

1 reference

12 December 2020

Congenital disorders of glycosylation (CDG): a rapidly expanding group of neurometabolic disorders

1 reference

12 December 2020

The origin of dolichol in the liver of the rat. Determination of the dietary contribution

1 reference

12 December 2020

Metabolic labeling of dolichol and dolichyl phosphate in isolate hepatocytes

1 reference

12 December 2020

The alpha-saturation and terminal events in dolichol biosynthesis

1 reference

12 December 2020

Natural Mutagenesis Study of the Human Steroid 5.alpha.-Reductase 2 Isoenzyme

1 reference

12 December 2020

Sequential microanalyses of free dolichol, dolichyl fatty acid ester and dolichyl phosphate levels in human serum

1 reference

12 December 2020

Rapid and reliable protein extraction from yeast

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

Enzymatic dephosphorylation of dolichyl pyrophosphate — The bacitracinsensitive, rate-limiting step for dolichyl mannosyl phosphate synthesis in rat liver microsomes

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

CTP-dependent dolichol phosphorylation by mammalian cell homogenates

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

A highly informative SNP linkage panel for human genetic studies.

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

Saccharomyces cerevisiae sec59 cells are deficient in dolichol kinase activity

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

Production of human compatible high mannose-type (Man5GlcNAc2) sugar chains in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

Golgi-enriched membrane fractions from rat brain and liver contain long-chain polyisoprenyl pyrophosphate phosphatase activity

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

Mutants in dolichol synthesis: conversion of polyprenol to dolichol appears to be a rate-limiting step in dolichol synthesis.

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

Defects in the N-linked oligosaccharide biosynthetic pathway in a Trypanosoma brucei glycosylation mutant

1 reference

https://api.crossref.org/works/10.1016/J.CELL.2010.06.001

7 January 2021

10.1016/J.CELL.2010.06.001

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

20637498

1 reference