(Q35009876)

5 August 2017

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title

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

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5 August 2017

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1 reference

Micha A Haeuptle

1

1 reference

PubMed ID

19862844

5 August 2017

Thierry Hennet

series ordinal

2

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5 August 2017

1 December 2009

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5 August 2017

1 reference

5 August 2017

30

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5 August 2017

12

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5 August 2017

1628-1641

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

5 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

The ALG10 locus of Saccharomyces cerevisiae encodes the alpha-1,2 glucosyltransferase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

The yeast ALG11 gene specifies addition of the terminal alpha 1,2-Man to the Man5GlcNAc2-PP-dolichol N-glycosylation intermediate formed on the cytosolic side of the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

The x-ray crystal structure of phosphomannose isomerase from Candida albicans at 1.7 angstrom resolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Prediction of transmembrane alpha-helices in prokaryotic membrane proteins: the dense alignment surface method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

More than one glycan is needed for ER glucosidase II to allow entry of glycoproteins into the calnexin/calreticulin cycle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Quality control in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Does Rft1 flip an N-glycan lipid precursor?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Genetic defects in the human glycome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Underdiagnosis of mild congenital disorders of glycosylation type Ia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Human RFT1 deficiency leads to a disorder of N-linked glycosylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation-Ic: case report and genetic defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

SOSUI: classification and secondary structure prediction system for membrane proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Biosynthesis of asparagine-linked oligosaccharides in Saccharomyces cerevisiae: the alg2 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Evolution of protein structures and functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Assembly of asparagine-linked oligosaccharides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

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/10.1002%2FHUMU.21126

7 January 2021

CDG-Id in two siblings with partially different phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Protein glycosylation in yeast: transcript heterogeneity of the ALG7 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

A new insight into PMM2 mutations in the French population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Dolichol-phosphate mannose synthase: structure, function and regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Research network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation Ic in patients of Indian origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

New phenotype of mutations deficient in glucosylation of the lipid-linked oligosaccharide: cloning of the ALG8 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Polyisoprenoids: structure, biosynthesis and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

The microheterogeneity of human transferrins in biological fluids

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

PMM2 intronic branch-site mutations in CDG-Ia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Identification of a frequent variant inALG6, the cause of Congenital Disorder of Glycosylation-Ic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21126

7 January 2021

Identifiers

DOI

10.1002/HUMU.21126

1 reference

5 August 2017

1 reference

PubMed ID

19862844