(Q24301443)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

0 references

0 references

dehydrodolichyl diphosphate synthase complex

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1904423

Dehydrodolichyl diphosphate synthase subunit

1 reference

NUS1 dehydrodolichyl diphosphate synthase subunit

1 reference

prenyltransferase activity

1 reference

NUS1 dehydrodolichyl diphosphate synthase subunit

1 reference

Ditrans,polycis-polyprenyl diphosphate synthase YBR002C

1 reference

Ditrans,polycis-polyprenyl diphosphate synthase YDL193W

1 reference

Ditrans,polycis-polyprenyl diphosphate synthase YMR101C

1 reference

congenital disorder of glycosylation

1 reference

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Hana Hartmannová

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Kateřina Hodaňová

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Veronika Barešová

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Nina Ondrušková

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Tomáš Honzík

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Jiri Zeman

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Jiri Zeman

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Helena Hůlková

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

18

William C Sessa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

8

Jana Sovová

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Eon Joo Park

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Kariona A Grabińska

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Ziqiang Guan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Levente Jozsef

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Hana Hansíková

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Rong Wen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Stanislav Kmoch

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

language of work or name

English

0 references

publication date

24 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

448-457

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

Nogo-B receptor is necessary for cellular dolichol biosynthesis and protein N-glycosylation

10 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Identification of HE1 as the second gene of Niemann-Pick C disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

The yeast RER2 gene, identified by endoplasmic reticulum protein localization mutations, encodes cis-prenyltransferase, a key enzyme in dolichol synthesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Crystal structure of cis-prenyl chain elongating enzyme, undecaprenyl diphosphate synthase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

A survey of essential gene function in the yeast cell division cycle

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Protamine-Cre recombinase transgenes efficiently recombine target sequences in the male germ line of mice, but not in embryonic stem cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Regulation of protein glycosylation and sorting by the Golgi matrix proteins GRASP55/65.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Liquid chromatography/tandem mass spectrometry of dolichols and polyprenols, lipid sugar carriers across evolution

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Polyisoprenoids - Secondary metabolites or physiologically important superlipids?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Expression of functional bacterial undecaprenyl pyrophosphate synthase in the yeast rer2{Delta} mutant and CHO cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Molecular characterization of the cis-prenyltransferase of Giardia lamblia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Cholesterol synthesis inhibitor U18666A and the role of sterol metabolism and trafficking in numerous pathophysiological processes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Identification of a receptor necessary for Nogo-B stimulated chemotaxis and morphogenesis of endothelial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

An alternative cis-isoprenyltransferase activity in yeast that produces polyisoprenols with chain lengths similar to mammalian dolichols

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

SRD5A3-CDG: a patient with a novel mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Functional relationships between the Saccharomyces cerevisiae cis-prenyltransferases required for dolichol biosynthesis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Crystal structures of undecaprenyl pyrophosphate synthase in complex with magnesium, isopentenyl pyrophosphate, and farnesyl thiopyrophosphate: roles of the metal ion and conserved residues in catalysis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

A noninvasive genetic/pharmacologic strategy for visualizing cell morphology and clonal relationships in the mouse.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161961

Polyprenol formation in the yeast Saccharomyces cerevisiae: effect of farnesyl diphosphate synthase overexpression

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25066056

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CMET.2014.06.016

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

25066056

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066056%20AND%20SRC:MED&resulttype=core&format=json