(Q24651944)

7 April 2017

title

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

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Hisashi Ashida

17

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Martin Lammens

object named as

Martin Lammens

21

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Lambert P van den Heuvel

20

object named as

Lambert van den Heuvel

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Frank W M B Preijers

9

object named as

Frank W Preijers

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author name string

Dirk J Lefeber

1

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Johannes Schönberger

2

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Eva Morava

3

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Mailys Guillard

4

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Karin M Huyben

5

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Kiek Verrijp

6

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Olga Grafakou

7

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Athanasios Evangeliou

8

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Panagiota Manta

10

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Jef Yildiz

11

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Stephanie Grünewald

12

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Martha Spilioti

13

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Christa van den Elzen

14

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Dominique Klein

15

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Daniel Hess

16

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Jan Hofsteenge

18

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Yusuke Maeda

19

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Ludwig Lehle

22

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Ron A Wevers

American Journal of Human Genetics

23

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language of work or name

English

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publication date

July 2009

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published in

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volume

85

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issue

1

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page(s)

76-86

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cites work

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

7 April 2017

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

7 April 2017

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7 April 2017

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Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

7 April 2017

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Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

7 April 2017

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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

7 April 2017

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A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

7 April 2017

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Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals

7 April 2017

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Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2

7 April 2017

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

7 April 2017

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

7 April 2017

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Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

7 April 2017

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DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate

7 April 2017

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A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells

7 April 2017

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Biosynthesis of lipid-linked oligosaccharides in Saccharomyces cerevisiae: Alg13p and Alg14p form a complex required for the formation of GlcNAc(2)-PP-dolichol

7 April 2017

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

7 April 2017

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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

7 April 2017

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

7 April 2017

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Dolichol-phosphate mannose synthase: structure, function and regulation

7 April 2017

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Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms

28 September 2017

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Glycomic profiling of cells and tissues by mass spectrometry: fingerprinting and sequencing methodologies

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Protein glycosylation, conserved from yeast to man: a model organism helps elucidate congenital human diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Glyc-O-genetics of Walker-Warburg syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

The dolichol pathway of N-linked glycosylation

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Biosynthesis of glycosyl-phosphatidylinositol lipids in Trypanosoma brucei: involvement of mannosyl-phosphoryldolichol as the mannose donor

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Identification of defects in glycosylphosphatidylinositol anchor biosynthesis in the Thy-1 expression mutants

30 May 2018

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On the nomenclature of congenital disorders of glycosylation (CDG).

30 May 2018

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Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2706967

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

28 November 2018

1 reference

12 December 2020

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

1 reference

12 December 2020

Biosynthesis of the core region of yeast mannoproteins. Formation of a glucosylated dolichol-bound oligosaccharide precursor, its transfer to protein and subsequent modification

1 reference

12 December 2020

Normal N-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria

1 reference

12 December 2020

Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats

1 reference

12 December 2020

10.1016/J.AJHG.2009.06.006

Identifiers

DOI

1 reference

1985601

1985601

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1 reference

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