A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity (Q37035407)

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scientific article published on 24 June 2016

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English	A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity	scientific article published on 24 June 2016

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scholarly article

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15 March 2020

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity (English)

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15 March 2020

congenital disorder

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15 March 2020

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Isabelle Chantret

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15 March 2020

Stuart E H Moore

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15 March 2020

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S Vuillaumier-Barrot

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E Mintet

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M Fasseu

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15 March 2020

V Valayannopoulos

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D Héron

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N Dorison

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C Mignot

8

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15 March 2020

T Dupré

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publication date

24 June 2016

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Orphanet Journal of Rare Diseases

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15 March 2020

84

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15 March 2020

1

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15 March 2020

https://scigraph.springernature.com/pub.10.1186/s13023-016-0468-1

0 references

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

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29 September 2017

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

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29 September 2017

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

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29 September 2017

Tankyrases: structure, function and therapeutic implications in cancer

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29 September 2017

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

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29 September 2017

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

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29 September 2017

Congenital disorders of glycosylation

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29 September 2017

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

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29 September 2017

Life with too much polyprenol: polyprenol reductase deficiency

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29 September 2017

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene

1 reference

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29 September 2017

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

1 reference

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29 September 2017

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

1 reference

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29 September 2017

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

1 reference

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29 September 2017

Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells

1 reference

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29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4919849

29 September 2017

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

1 reference

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29 September 2017

Hypermetabolism, hyperphagia, and reduced adiposity in tankyrase-deficient mice

1 reference

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29 September 2017

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

1 reference

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29 September 2017

Biochemistry of mammalian peroxisomes revisited

1 reference

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29 September 2017

Two proteins homologous to the N- and C-terminal domains of the bacterial glycosyltransferase Murg are required for the second step of dolichyl-linked oligosaccharide synthesis in Saccharomyces cerevisiae

1 reference

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29 September 2017

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

1 reference

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29 September 2017

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

1 reference

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29 September 2017

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

1 reference

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29 September 2017

The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic

1 reference

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29 September 2017

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

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29 September 2017

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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29 September 2017

Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress

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29 September 2017

The dolichol pathway of N-linked glycosylation

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29 September 2017

Yeast vectors for the controlled expression of heterologous proteins in different genetic backgrounds

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29 September 2017

Biosynthesis of dolichol by rat liver peroxisomes.

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27 June 2018

SRD5A3-CDG: a patient with a novel mutation

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4 September 2018

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

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4 September 2018

Recycling of dolichyl monophosphate to the cytoplasmic leaflet of the endoplasmic reticulum after the cleavage of dolichyl pyrophosphate on the lumenal monolayer

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4 September 2018

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

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4 September 2018

Genome-wide analysis of the unfolded protein response in fibroblasts from congenital disorders of glycosylation type-I patients

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4 September 2018

Induction of dolichyl-saccharide intermediate biosynthesis corresponds to increased long chain cis-isoprenyltransferase activity during the mitogenic response in mouse B cells.

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4 September 2018

Mutation K42E in Dehydrodolichol Diphosphate Synthase (DHDDS) Causes Recessive Retinitis Pigmentosa

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https://api.crossref.org/works/10.1186%2FS13023-016-0468-1

21 January 2018

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of dolichol and cholesterol synthesis in microsomes and peroxisomes isolated from rat liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/27343064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-016-0468-1

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15 March 2020

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15 March 2020

1 reference

Europe PubMed Central

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15 March 2020

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