Works matching DE "PHOSPHOMANNOMUTASE"
Results: 20
Multienzymatic cascade synthesis of fucosyloligosaccharide via a two-step fermentation strategy in Escherichia coli.
- Published in:
- Biotechnology Letters, 2016, v. 38, n. 10, p. 1747, doi. 10.1007/s10529-016-2151-y
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- Publication type:
- Article
Cloning, expression and characterization of a phosphoglucomutase/phosphomannomutase from sphingan-producing Sphingomonas sanxanigenens.
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- Biotechnology Letters, 2013, v. 35, n. 8, p. 1265, doi. 10.1007/s10529-013-1193-7
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- Publication type:
- Article
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
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- Pediatric Radiology, 2014, v. 44, n. 2, p. 222, doi. 10.1007/s00247-013-2782-2
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- Publication type:
- Article
N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response.
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- Glycobiology, 2014, v. 24, n. 4, p. 392, doi. 10.1093/glycob/cwu006
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- Publication type:
- Article
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
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- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158863
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- Publication type:
- Article
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139882
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- Publication type:
- Article
Clinical utility gene card for: Phosphomannomutase 2 deficiency.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1, doi. 10.1038/ejhg.2013.298
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- Publication type:
- Article
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
- Published in:
- 2016
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- Publication type:
- Correction Notice
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2218, doi. 10.3390/ijms19082218
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- Publication type:
- Article
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 619, doi. 10.3390/ijms19020619
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- Publication type:
- Article
Phosphoglucomutase is absent in Trypanosoma brucei and redundantly substituted by phosphomannomutase and phospho- N-acetylglucosamine mutase.
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- Molecular Microbiology, 2012, v. 85, n. 3, p. 513, doi. 10.1111/j.1365-2958.2012.08124.x
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- Publication type:
- Article
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-170
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- Publication type:
- Article
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.
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- Nature Genetics, 2014, v. 46, n. 10, p. 1115, doi. 10.1038/ng.3078
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- Publication type:
- Article
Anthropometric Phenotype of Patients with PMM2-CDG.
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- Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100852
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- Publication type:
- Article
Aktivita fosfomanomutázy 2 u pacientů s podezřením na dědičnou poruchu glykosylace.
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- Klinická Biochemie a Metabolismus, 2016, v. 24, n. 2, p. 67
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- Publication type:
- Article
Role of phage ϕ1 in two strains of Salmonella Rissen, sensitive and resistant to phage ϕ1.
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- BMC Microbiology, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12866-018-1360-z
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- Publication type:
- Article
Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia).
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- Cerebellum, 2012, v. 11, n. 2, p. 557, doi. 10.1007/s12311-011-0313-y
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- Publication type:
- Article
Deficit fosfomanomutázy 2: klinická, biochemická a molekulárně-genetická charakteristika 22 pacientů diagnostikovaných v České republice.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2018, v. 73, n. 6, p. 365
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- Publication type:
- Article
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189629
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- Publication type:
- Article
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
- Published in:
- 2017
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- Publication type:
- journal article