Genetic defects in the human glycome (Q34534962)

2 August 2017

1 reference

title

Genetic defects in the human glycome (English)

1 reference

Erratum: Genetic defects in the human glycome

2 August 2017

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/NRG1937

Hudson H Freeze

1

0 references

publication date

6 June 2006

1 reference

2 August 2017

published in

Nature Reviews Genetics

1 reference

2 August 2017

volume

7

1 reference

2 August 2017

issue

7

1 reference

2 August 2017

page(s)

537-551

1 reference

https://scigraph.springernature.com/pub.10.1038/nrg1894

2 August 2017

exact match

0 references

cites work

Glycomics: an integrated systems approach to structure-function relationships of glycans

1 reference

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review

21 January 2018

1 reference

Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

21 January 2018

1 reference

Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds

21 January 2018

1 reference

Assembly of asparagine-linked oligosaccharides

21 January 2018

1 reference

The molecular basis of coupling of translocation and N-glycosylation

21 January 2018

1 reference

An evolving view of the eukaryotic oligosaccharyltransferase

21 January 2018

1 reference

The role of defective glycosylation in congenital muscular dystrophy

21 January 2018

1 reference

High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis

21 January 2018

1 reference

Order out of chaos: assembly of ligand binding sites in heparan sulfate

21 January 2018

1 reference

Carbohydrate-to-carbohydrate interaction, through glycosynapse, as a basis of cell recognition and membrane organization

21 January 2018

1 reference

GPI-anchor synthesis: Ras takes charge

21 January 2018

1 reference

Congenital disorders of glycosylation

21 January 2018

1 reference

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

21 January 2018

1 reference

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

21 January 2018

1 reference

Update and perspectives on congenital disorders of glycosylation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

21 January 2018

1 reference

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

21 January 2018

1 reference

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

21 January 2018

1 reference

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

21 January 2018

1 reference

Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

21 January 2018

1 reference

Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome?

21 January 2018

1 reference

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins

21 January 2018

1 reference

Retrograde transport on the COG railway.

21 January 2018

1 reference

Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells

21 January 2018

1 reference

COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation

21 January 2018

1 reference

The conserved oligomeric Golgi complex acts in organ morphogenesis via glycosylation of an ADAM protease in C. elegans

21 January 2018

1 reference

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

21 January 2018

1 reference

Defective protein glycosylation in patients with cutis laxa syndrome.

21 January 2018

1 reference

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups

21 January 2018

1 reference

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

21 January 2018

1 reference

Membrane traffic fuses with cartilage development

21 January 2018

1 reference

Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation

21 January 2018

1 reference

Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis

21 January 2018

1 reference

Fucose: biosynthesis and biological function in mammals

21 January 2018

1 reference

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

21 January 2018

1 reference

Mannose 6-phosphate receptors: new twists in the tale

21 January 2018

1 reference

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

21 January 2018

1 reference

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

21 January 2018

1 reference

HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test

21 January 2018

1 reference

Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.

21 January 2018

1 reference

Insights into the pathogenesis of galactosemia

21 January 2018

1 reference

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

21 January 2018

1 reference

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

21 January 2018

1 reference

An updated review of the long-term neurological effects of galactosemia.

21 January 2018

1 reference

Variable site-occupancy classification of N-linked glycosylation using artificial neural networks.

21 January 2018

1 reference

Controlling N-linked glycan site occupancy

21 January 2018

1 reference

Role of quality control pathways in human diseases involving protein misfolding

21 January 2018

1 reference

Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation

21 January 2018

1 reference

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

21 January 2018

1 reference

N-acetylglucosaminyltransferase V (Mgat5)-mediated N-glycosylation negatively regulates Th1 cytokine production by T cells

21 January 2018

1 reference

Glycobiology of neuromuscular disorders

21 January 2018

1 reference

The congenital muscular dystrophies in 2004: a century of exciting progress

21 January 2018

1 reference

Glyc-O-genetics of Walker-Warburg syndrome

21 January 2018

1 reference

Defective glycosylation in congenital muscular dystrophies

21 January 2018

1 reference

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

21 January 2018

1 reference

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

21 January 2018

1 reference

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 January 2018

1 reference

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

21 January 2018

1 reference

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

21 January 2018

1 reference

A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)

21 January 2018

1 reference

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

21 January 2018

1 reference

Molecular recognition by LARGE is essential for expression of functional dystroglycan

21 January 2018

1 reference

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

21 January 2018

1 reference

Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice

21 January 2018

1 reference

Artificial sweeteners--enhancing glycosylation to treat muscular dystrophies

21 January 2018

1 reference

The new frontier in muscular dystrophy research: booster genes

21 January 2018

1 reference

Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.

21 January 2018

1 reference

Hereditary multiple exostoses and heparan sulfate polymerization

21 January 2018

1 reference

Congenital disorders of glycosylation: a booming chapter of pediatrics

21 January 2018

1 reference

Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice

21 January 2018

1 reference

Mice deficient in Ext2 lack heparan sulfate and develop exostoses

21 January 2018

1 reference

Pathogenetics of the human SLC26 transporters

21 January 2018

1 reference

All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases

21 January 2018

1 reference

Post-translational modification of Fibroblast Growth Factor 23.

21 January 2018

1 reference

Protein glycosylation: chaperone mutation in Tn syndrome

21 January 2018

1 reference

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

21 January 2018

1 reference

Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions

21 January 2018

1 reference

Human Disease Glycomics/Proteome Initiative Workshop and the 4th HUPO Annual Congress

21 January 2018

1 reference

Organization of Golgi glycosyltransferases in membranes: complexity via complexes

21 January 2018

1 reference

Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum

21 January 2018

1 reference

Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation

21 January 2018

1 reference

Dietary and genetic control of glucose transporter 2 glycosylation promotes insulin secretion in suppressing diabetes

21 January 2018

1 reference

SNPeffect: a database mapping molecular phenotypic effects of human non-synonymous coding SNPs

21 January 2018

1 reference

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

21 January 2018

1 reference

Applied glycoproteomics--approaches to study genetic-environmental collisions causing protein-losing enteropathy

21 January 2018

1 reference

Protein-losing enteropathy in patients with Fontan circulation: is it triggered by infection?

21 January 2018

1 reference

The congenital disorders of glycosylation: a multifaceted group of syndromes

21 January 2018

1 reference

Glycosyl Phosphatidylinositol-Linked Glycoconjugates:Structure, Biosynthesis and function

21 January 2018

1 reference

The pathology of N-glycosylation--stay the middle, avoid the risks

31 March 2020

1 reference

Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Altered follicle stimulating hormone isoforms in female galactosaemia patients

31 March 2020

1 reference

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

31 March 2020

1 reference

Gangliosides help stabilize the brain

31 March 2020

1 reference

Immunoselection by natural killer cells of PIGA mutant cells missing stress-inducible ULBP

31 March 2020

1 reference

31 March 2020

1 reference

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

31 March 2020

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NRG1894

1 reference

Dimensions Publication ID

2 August 2017

1046316377

0 references

1 reference