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Disease on EC 2.7.7.59 - [protein-PII] uridylyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Ataxia
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.
Carcinoma, Hepatocellular
The Leloir Pathway of Galactose Metabolism - A Novel Therapeutic Target for Hepatocellular Carcinoma.
Confusion
Separation and characterization of two UTP-utilizing hexose phosphate uridylyltransferases from Entamoeba histolytica.
Cysts
A comparative study of UTP-D-glucose-1-phosphate uridylyl transferase in the cysts of Echinococcus multilocularis and the livers of infected and control Meriones unguiculatus.
Down Syndrome
[Enzymatic study of leukocytes during leukemia and trisomy 21. A common anomaly: increase in galactose-1-phosphate uridylyl transferase]
Fructose Intolerance
Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats.
Galactosemias
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.
Hand fine motor control in classic galactosemia.
Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase.
Manganese-Based Superoxide Dismutase Mimics Modify Both Acute and Long-Term Outcome Severity in a Drosophila melanogaster Model of Classic Galactosemia.
Modifiers of ovarian function in girls and women with classic galactosemia.
Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
Receptor-mediated attenuation of insulin-like growth factor-1 activity by galactose-1-phosphate in neonate skin fibroblast cultures: Galactosemia pathogenesis.
Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model.
Reversion from deficiency of galactose-1-phosphate uridylytransferase (GALT) in an SV40-transformed human fibroblast line.
Salubrinal enhances eIF2? phosphorylation and improves fertility in a mouse model of Classic Galactosemia.
Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens.
Structure-Based Optimization of Small Molecule Human Galactokinase Inhibitors.
Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia.
[Galactosemia caused by galactosephosphate uridylyltransferase]
Genetic Diseases, Inborn
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.
Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats.
Modifiers of ovarian function in girls and women with classic galactosemia.
glucose-6-phosphatase deficiency
Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats.
Glycogen Storage Disease Type I
Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats.
Infertility
Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts.
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
Leukemia
[Enzymatic study of leukocytes during leukemia and trisomy 21. A common anomaly: increase in galactose-1-phosphate uridylyl transferase]
Metabolism, Inborn Errors
Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens.
Starvation
The Escherichia coli PII signal transduction protein is activated upon binding 2-ketoglutarate and ATP.
Tuberculosis
Expression, purification and preliminary crystallographic analysis of N-acetylglucosamine-1-phosphate uridylyltransferase from Mycobacterium tuberculosis.
[protein-pii] uridylyltransferase deficiency
Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats.
[Galactose 1-phosphate level in children with various types of hexosephosphate uridylyltransferase deficiency]