(Q34534962)

2 August 2017

1 reference

title

Genetic defects in the human glycome (English)

1 reference

PubMed ID

16755287

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

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publication date

6 June 2006

1 reference

2 August 2017

Nature Reviews Genetics

1 reference

2 August 2017

7

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2 August 2017

537-551

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2 August 2017

7

1 reference

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

2 August 2017

0 references

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

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

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Retrograde transport on the COG railway.

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Membrane traffic fuses with cartilage development

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

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Mannose 6-phosphate receptors: new twists in the tale

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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

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

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HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test

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

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Insights into the pathogenesis of galactosemia

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GALT deficiency causes UDP-hexose deficit in human galactosemic cells

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

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

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

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Controlling N-linked glycan site occupancy

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Role of quality control pathways in human diseases involving protein misfolding

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

21 January 2018

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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

21 January 2018

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

21 January 2018

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Glycobiology of neuromuscular disorders

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

21 January 2018

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Glyc-O-genetics of Walker-Warburg syndrome

21 January 2018

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Defective glycosylation in congenital muscular dystrophies

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular recognition by LARGE is essential for expression of functional dystroglycan

21 January 2018

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

21 January 2018

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

21 January 2018

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Artificial sweeteners--enhancing glycosylation to treat muscular dystrophies

21 January 2018

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The new frontier in muscular dystrophy research: booster genes

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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

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Hereditary multiple exostoses and heparan sulfate polymerization

21 January 2018

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Congenital disorders of glycosylation: a booming chapter of pediatrics

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

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Mice deficient in Ext2 lack heparan sulfate and develop exostoses

21 January 2018

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Pathogenetics of the human SLC26 transporters

21 January 2018

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

21 January 2018

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Post-translational modification of Fibroblast Growth Factor 23.

21 January 2018

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Protein glycosylation: chaperone mutation in Tn syndrome

21 January 2018

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

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

21 January 2018

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

21 January 2018

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Organization of Golgi glycosyltransferases in membranes: complexity via complexes

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The congenital disorders of glycosylation: a multifaceted group of syndromes

21 January 2018

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Glycosyl Phosphatidylinositol-Linked Glycoconjugates:Structure, Biosynthesis and function

21 January 2018

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

31 March 2020

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

31 March 2020

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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

PubMed ID

16755287

Dimensions Publication ID

2 August 2017

0 references

1 reference

PubMed ID

16755287