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We report the MFRP (zeige MFRP Antikörper)-related ocular phenotype in three siblings with glycogen (zeige GYS1 Antikörper) storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP (zeige MFRP Antikörper) and SLC37A4 genes.
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 (zeige G6PC Antikörper) complex by cyclic AMP (zeige APRT Antikörper) is a crucial determinant of endogenous glucose production and is controlled by the glucose-6-phosphate transporter.
Data suggest that G6PT (zeige G6PC Antikörper) modulates autophagy independent of its transport activity; G6PT (zeige G6PC Antikörper) appears to up-regulate autophagy via inactivation of mTORC1; knockdown of G6PT (zeige G6PC Antikörper) expression activates mTORC1 (mechanistic target of rapamycin (zeige FRAP1 Antikörper) 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 (zeige GYS1 Antikörper) storage disease Ib is caused by only one mutational event in the G6PT (zeige G6PC Antikörper) 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 (zeige CACNA1A Antikörper)-switch type of movement of the two domains
mutational analysis of G6PT1 in type I glycogen (zeige GYS1 Antikörper) storage disease
Overexpression of recombinant glucose-6-phosphate translocase rescued the cells from curcumin-induced cell death [ glucose-6-phosphate translocase]
Specific reduction of G6PT (zeige G6PC Antikörper) may contribute to downregulation of hepatic 11beta-HSD1 (zeige HSD11B1 Antikörper) in diabetic mice.
hepatic G6PT (zeige G6PC Antikörper) functions as an uniporter
Findings suggest that increased hepatic H6PDH and G6PT (zeige G6PC Antikörper) production contribute to 11beta-HSD1 (zeige HSD11B1 Antikörper) 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 (zeige MMP14 Antikörper)/G6PT (zeige G6PC Antikörper) signaling axis that regulates BMSC survival, ECM (zeige MMRN1 Antikörper) degradation, and mobilization
Data suggest that G6PT (zeige G6PC Antikörper) 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, transport (glucose) protein 3
, glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1
, glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2
, glucose-6-phosphate translocase
, microsomal glucose-6-phosphate transporter
, solute carrier family 37 member 4
, transformation-related gene 19 protein
, solute carrier family 37 (glycerol-6-phosphate transporter), member 4
, glucose-6-phosphatase, catalytic subunit
, glucose 6-phosphate transporter
, glucose-6-phosphatase, transport protein 1
, glucose-6-phosphatase transport protein 1
, solute carrier family 37 (glucose-6-phosphate transporter), member 4
, glucose-6-phosphate translocase-like