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The Gfpt1tm1d/tm1d model allows for further investigation of pathophysiological consequences on genes and pathways downstream of GFPT1 likely to involve misglycosylation or hypoglycosylation of neuromuscular junction and muscle targets.
mTORC2 responds to glutamine catabolite levels to modulate the hexosamine biosynthesis enzyme GFAT1, and is essential for proper expression and nuclear accumulation of the GFAT1 transcriptional regulator, Xbp1s.
GFAT-1 plays a critical role in modulating adipogenesis
These results suggest that 2-deoxy-d-glucose reduces N-glycosylation of proteins following the increase of phosphorylation of GFAT1 and results in the inhibition of cell growth mediated by endoplasmic reticulum stress in pancreatic cancer cells.
MTOR2/C-MYC/GFAT1 axis is responsible for the modulation on the crosstalk between glycolysis and glutaminolysis in glioblastoma cells.
We also showed that IL-8 stimulation of colon and lung cancer cells-induced glucose uptake and expressions of glucose transporter 3 (GLUT3) and glucosamine fructose-6-phosphate aminotransferase (GFAT), a regulator of glucose flux to the hexosamine biosynthetic pathway, resulting in enhancement of protein O-GlcNAcylation
high GFAT1 expression is identified as an independent predictor of adverse clinical outcome in our small number of pancreatic cancer patients, and the practical prognostic nomogram model may help clinicians in decision making and the design of clinical studies.
study reports nine new mutations of GFPT1 in limb-girdle congenital myasthenic syndrome (LG-CMS)
Findings indicate that GFAT1 functions as a novel suppressor of EMT and tumor metastasis in gastric cancer.
GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration.
High GFAT1 expression is associated with hepatocellular carcinoma.
GFAT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis.
The AMPK-GFAT1 signaling axis serves as an important communication point between two nutrient-sensitive signaling pathways and is likely to play a significant role in controlling physiological processes in many other tissues.
Increased GFPT1 expression is associated with triple-negative breast cancer.
This study demonstrated that Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome
Two GFPT1 untranslated mutations may cause limb-girdle myasthenia by reducing GFPT1 expression and ultimately impairing protein glycosylation.
Mapping of the regulatory site of glucosamine-6P synthase identified critical residues necessary for catalysis.
Inhibition of GFPT1 enzymatic activity or siRNA silencing of GFPT1 expression resulted in reduced AChR expression.
The results found no correlation between end plate morphology and physiology or between genotype and phenotype in GFPT1-myasthenia.
GFPT1 is the key enzyme in the hexosamine biosynthesis pathway. Mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction.
Data suggest that enzymes in hexosamine biosynthesis pathway and downstream protein O-GlcNAcylation are important for preimplantation development; these include Gfpt, Oga (O-GlcNAcase), and Ogt (O-GlcNAc transferase).
cDNA sequence of the porcine GFAT1 gene was cloned and a GFAT1 splice variant (designed GFAT1-L) that contains a 54 bp insertion within the coding region, was identified.
This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate.
glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1
, glutamine-fructose-6-phosphate transaminase 1
, glutamine--fructose-6-phosphate transaminase 1
, D-fructose-6-phosphate amidotransferase 1
, GFAT 1
, glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
, glutamine:fructose 6 phosphate amidotransferase 1
, glutamine:fructose-6-phosphate amidotransferase 1
, hexosephosphate aminotransferase 1
, glutamine fructose aminotransferase
, glutamine-fructose-6-phosphate aminotransferase 1