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The most common mutation of SLC37A4 genes identified in Korean patients was c.443C>T (p.Ala148Val), accounting for 55.6% (5/9 patients) of all GSD Ib patients and 38.9% of the tested alleles
Post-translational regulation of the glucose-6-phosphatase (show G6PC Antibodies) complex by cyclic AMP (show APRT Antibodies) is a crucial determinant of endogenous glucose production and is controlled by the glucose-6-phosphate transporter.
Data suggest that G6PT (show G6PC Antibodies) modulates autophagy independent of its transport activity; G6PT (show G6PC Antibodies) appears to up-regulate autophagy via inactivation of mTORC1; knockdown of G6PT (show G6PC Antibodies) expression activates mTORC1 (mechanistic target of rapamycin (show FRAP1 Antibodies) complex 1) activity.
Five SLC37A4 gene mutations were detected in 7 (25%) of the 28 children
A total of 11 SLC37A4 gene mutations were identified in 15 families of the mainland of China. The frequent mutations are p.Pro191Leu, p.Gly149Glu and c.870 + 5G > A.
Our results suggest that in Sardinia, Glycogen (show GYS1 Antibodies) storage disease Ib is caused by only one mutational event in the G6PT (show G6PC Antibodies) gene, further suggesting that Sardinia is a founder population.
operates by a similar antiport mechanism as its E. coli homologue, namely, the substrate binds at the N- and C-terminal domain interface and is then transported across the membrane via a rocker (show CACNA1A Antibodies)-switch type of movement of the two domains
mutational analysis of G6PT1 in type I glycogen (show GYS1 Antibodies) storage disease
Overexpression of recombinant glucose-6-phosphate translocase rescued the cells from curcumin-induced cell death [ glucose-6-phosphate translocase]
A novel G6PT1 promoter polymorphism, 259C --> T was found; the - 259*T allele frequency was greater in term SIDS (show IDS Antibodies) infants than in term control infants and preterm SIDS (show IDS Antibodies) infants
Specific reduction of G6PT (show G6PC Antibodies) may contribute to downregulation of hepatic 11beta-HSD1 (show HSD11B1 Antibodies) in diabetic mice.
hepatic G6PT (show G6PC Antibodies) functions as an uniporter
Findings suggest that increased hepatic H6PDH and G6PT (show G6PC Antibodies) production contribute to 11beta-HSD1 (show HSD11B1 Antibodies) upregulation of local glucocorticoid action that may be related to the development of type 2 diabetes.
Evidence for the expression of G6PT1 in pancreatic islets.
there is an MT1-MMP (show MMP14 Antibodies)/G6PT (show G6PC Antibodies) signaling axis that regulates BMSC survival, ECM (show MMRN1 Antibodies) degradation, and mobilization
Data suggest that G6PT (show G6PC Antibodies) may account for the metabolic flexibility that enables MSCs to survive under conditions characterized by hypoxia and could be specifically targeted within developing tumors.
This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.
, glucose-6-phosphatase, catalytic subunit
, solute carrier family 37 (glucose-6-phosphate transporter), member 4
, solute carrier family 37 (glycerol-6-phosphate transporter), member 4
, glucose-6-phosphate translocase-like
, glucose-5-phosphate transporter
, glucose-6-phosphatase, transport (glucose) protein 3
, glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1
, glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2
, microsomal glucose-6-phosphate transporter
, solute carrier family 37 member 4
, transformation-related gene 19 protein
, glucose 6-phosphate transporter
, glucose-6-phosphatase, transport protein 1
, glucose-6-phosphatase transport protein 1