Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy (Q24308069)

From Wikidata

Jump to navigation Jump to search

scientific article

edit

Language	Label	Description	Also known as
English	Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy	scientific article

Statements

instance of

scholarly article

0 references

title

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy (English)

0 references

main subject

congenital disorder

0 references

glycosylation

1 reference

based on heuristic

inferred from title

congenital disorder

1 reference

based on heuristic

inferred from title

congenital muscular dystrophy

1 reference

based on heuristic

inferred from title

congenital disorder of glycosylation

1 reference

based on heuristic

inferred from title

author

Amy C Yang

object named as

Amy C Yang

series ordinal

1

0 references

Hudson H. Freeze

object named as

Hudson H Freeze

series ordinal

9

0 references

Steven A Moore

object named as

Steven A Moore

series ordinal

3

0 references

Kevin P Campbell

object named as

Kevin P Campbell

series ordinal

8

0 references

author name string

Bobby G Ng

series ordinal

2

0 references

Jeffrey Rush

series ordinal

4

0 references

Charles J Waechter

series ordinal

5

0 references

Kimiyo M Raymond

series ordinal

6

0 references

Tobias Willer

series ordinal

7

0 references

Lakshmi Mehta

series ordinal

10

0 references

language of work or name

English

0 references

publication date

November 2013

0 references

published in

Molecular Genetics and Metabolism

0 references

volume

110

0 references

issue

3

0 references

page(s)

345-51

0 references

cites work

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

The ins(ide) and out(side) of dolichyl phosphate biosynthesis and recycling in the endoplasmic reticulum

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

19 March 2017

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

The ever-expanding spectrum of congenital muscular dystrophies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

Cell-matrix interactions in muscle disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

Glycomic analyses of mouse models of congenital muscular dystrophy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

Congenital disorders of glycosylation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

Congenital disorder of glycosylation (CDG) type Ie. A new patient

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

Fluorescence detection in automated DNA sequence analysis.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

27 September 2017

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

30 May 2018

Stimulation by dolichol phosphate-mannose and phospholipids of the biosynthesis of N-acetylglucosaminylpyrophosphoryl dolichol.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

30 May 2018

Lipid intermediates involved in the assembly of membrane-associated glycoproteins in calf brain white matter

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

30 May 2018

How to find and diagnose a CDG due to defective N-glycosylation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800268

retrieved

29 November 2018

A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.016

retrieved

7 January 2021

Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23856421

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.YMGME.2013.06.016

0 references

PMC publication ID

3800268

0 references

PubMed publication ID

23856421

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24308069&oldid=1624733320"