Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients (Q37429297)

20 August 2017

1 reference

title

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients (English)

1 reference

20 August 2017

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Hudson H Freeze

1

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language of work or name

English

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publication date

1 September 2009

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Biochimica et Biophysica Acta

20 August 2017

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20 August 2017

1792

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20 August 2017

835-840

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20 August 2017

9

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Chemical and biological approaches synergize to ameliorate protein-folding diseases.

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Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses.

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

1 reference

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphate

23 August 2017

1 reference

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Enzyme replacement and enhancement therapies for lysosomal diseases

23 August 2017

1 reference

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23 August 2017

1 reference

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Activation of glycogen phosphorylase with 5-aminoimidazole-4-carboxamide riboside (AICAR). Assessment of glycogen as a precursor of mannosyl residues in glycoconjugates

23 August 2017

1 reference

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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

23 August 2017

1 reference

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Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse

23 August 2017

1 reference

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

23 August 2017

1 reference

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In vivo protein transduction: delivery of a biologically active protein into the mouse

23 August 2017

1 reference

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Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

23 August 2017

1 reference

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Exploring structure-activity relationships around the phosphomannose isomerase inhibitor AF14049 via combinatorial synthesis

23 August 2017

1 reference

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Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

23 August 2017

1 reference

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

23 August 2017

1 reference

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Direct utilization of mannose for mammalian glycoprotein biosynthesis

23 August 2017

1 reference

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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The yeast SEC53 gene encodes phosphomannomutase.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase

23 August 2017

1 reference

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Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts

14 September 2017

1 reference

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26 June 2018

1 reference

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Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Metformin-stimulated mannose transport in dermal fibroblasts

26 June 2018

1 reference

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Glycogen: a carbohydrate source for GLUT-1 glycosylation during glucose deprivation of 3T3-L1 adipocytes

26 June 2018

1 reference

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Studies on phosphomannose isomerase. II. Characterization as a zinc metalloenzyme

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Role of serum- and glucocorticoid-inducible kinase SGK1 in glucocorticoid regulation of renal electrolyte excretion and blood pressure

2 September 2018

1 reference

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Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Production and purification of lentiviral vectors

2 September 2018

1 reference

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Hepatic glycogen breakdown is implicated in the maintenance of plasma mannose concentration

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Membrane-permeant derivatives of mannose-1-phosphate

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783247

Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy

2 September 2018

1 reference

12 December 2020

[Treatment prospects of lysosomal storage disorders]

1 reference

12 December 2020

Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia

1 reference

12 December 2020

5-aminoimidazole-4-carboxamide riboside mimics the effects of insulin on the expression of the 2 key gluconeogenic genes PEPCK and glucose-6-phosphatase

1 reference

12 December 2020

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)

1 reference

12 December 2020

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

1 reference

12 December 2020

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

1 reference

12 December 2020

Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency

1 reference

12 December 2020

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

1 reference

12 December 2020

Serum and glucocorticoid-regulated kinase Sgk1 inhibits insulin-dependent activation of phosphomannomutase 2 in transfected COS-7 cells

1 reference

12 December 2020

Underdiagnosis of mild congenital disorders of glycosylation type Ia

1 reference

12 December 2020

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment

1 reference

12 December 2020

10.1016/J.BBADIS.2009.01.004

Identifiers

DOI

1 reference

release_sfsnzvf62zedvpj62oggjks6fu

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sfsnzvf62zedvpj62oggjks6fu

24 November 2022

mapped directly with Wikidata item

PMCID

2783247

1 reference

20 August 2017

1 reference

PMCID

2783247