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The 2,3-bisphosphoglycerate-independent phosphoglycerate mutase from Trypanosoma brucei: metal-ion dependency and phosphoenzyme formation
FEMS MICROBIOLOGY LETTERS
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
JOURNAL OF MEDICAL GENETICS
Analysis of the cooperativity of human beta-cell glucokinase through the stimulatory effect of glucose on fructose phosphorylation
JOURNAL OF BIOLOGICAL CHEMISTRY
Novel arguments in favor of the substrate-transport model of glucose-6-phosphatase
DIABETES
High frequency of cytolytic T lymphocytes directed against a tumor-specific mutated antigen detectable with HLA tetramers in the blood of a lung carcinoma patient with long survival
CANCER RESEARCH
High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
AMERICAN JOURNAL OF HUMAN GENETICS
"Overexpression and purification of fructose-1-phosphate kinase from Escherichia coli: Application to the assay of fructose 1-phosphate," (vol 19, pg48, 2000)
PROTEIN EXPRESSION AND PURIFICATION
Overexpression and purification of fructose-1-phosphate kinase from Escherichia coli: Application to the assay of fructose 1-phosphate
PROTEIN EXPRESSION AND PURIFICATION
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
GLYCOBIOLOGY
The gene encoding rat 3-phosphoglycerate dehydrogenase
MAMMALIAN GENOME
How many forms of glycogen storage disease type I?
EUROPEAN JOURNAL OF PEDIATRICS
Conversion of a synthetic fructosamine into its 3-phospho derivative in human erythrocytes
BIOCHEMICAL JOURNAL
Carbohydrate-deficient glycoprotein syndrome: Beyond the screen
JOURNAL OF INHERITED METABOLIC DISEASE
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism
JOURNAL OF INHERITED METABOLIC DISEASE
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype
PEDIATRIC RESEARCH
Study of the regulatory properties of glucokinase by site-directed mutagenesis - Conversion of glucokinase to an enzyme with high affinity for glucose
DIABETES
Identification, cloning, and heterologous expression of a mammalian fructosamine-3-kinase
DIABETES
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
The Putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
EUROPEAN JOURNAL OF HUMAN GENETICS
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Structure of the gene mutated in glycogen storage disease type Ib
GENE
Role of cysteine in the dietary control of the expression of 3-phosphoglycerate dehydrogenase in rat liver
BIOCHEMICAL JOURNAL
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes
BIOCHEMICAL JOURNAL
Mechanistic studies of phosphoserine phosphatase, an enzyme related to P-type ATPases
JOURNAL OF BIOLOGICAL CHEMISTRY
acs1 of Haemophilus influenzae type a capsulation locus region II encodes a bifunctional ribulose 5-phosphate reductase-CDP-ribitol pyrophosphorylase
JOURNAL OF BACTERIOLOGY
Identification of the cDNA en coding human 6-phosphogluconolactonase, the enzyme catalyzing the second step of the pentose phosphate pathway
FEBS LETTERS
Glucokinase regulatory protein is essential for the proper subcellular localisation of liver glucokinase
FEBS LETTERS
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
FEBS LETTERS