RP-L102's lentiviral vector carries the FANC-A gene as part of the PGK-FANCA-WPRE expression cassette which includes a phosphoglycerate
kinase promoter and an optimized woodchuck hepatitis virus posttranscriptional regulatory element.
This patient has 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, an autosomal recessive disorder caused by pathogenic variants in the phosphoglycerate
dehydrogenase gene, which encodes a dehydrogenase required for endogenous synthesis of serine.
Downstream of the necrosome are two splice variants of phosphoglycerate
mutase family member 5 (PGAM5), PGAM5S and PGAM5L.
gpmA and eno encode phosphoglycerate
mutase and enolase, respectively, which have been known to participate in substrate level phosphorylation as glycolytic enzymes in carbon metabolism.
Expression levels were normalized to those of reference genes, including hydroxymethylbilane synthase (HMBS), beta-2-microglobulin (B2M), hypoxanthine phosphoribosyltransferase 1 (HPRT1), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), and phosphoglycerate
kinase 1 (PGK1).
SSC, Sus scrofa chromosome, AR, androgen receptor, PGK1, phosphoglycerate
kinase 1, PLP1, proteolipid protein 1, tBg, thyroxine-binding globulin, CAPN6, calpain 6.
The selection markers were: PGK, mouse phosphoglycerate
kinase promoter; NEO, neomycin phosphotransferase; HPRT, mouse hypoxanthine phosphoribosyltransferase; TK, human herpes simplex virus type 1 thymidine kinase promoter; MT, mouse metallothionein promoter; loxP, a 34 bp recombination site from phage P1.
These include phosphoglycerate
mutase 1 (PGAM1), triose phosphate isomerase (TPIS), and alpha enolase (ENOA).
Thyroid hormone act by up-regulating the expression of GLUT-4 and phosphoglycerate
kinase genes, thus facilitating their action along with insulin and improving the disposal and utilisation of sugar in tissues.
The glycolysis genes include phosphoglycerate
mutase 1 (5223), glyceraldehyde-3-phosphate dehydrogenase (2597), and glucose-6-phosphatase (57818).
(6) Further, endotoxin-mediated urokinase-type plasminogen activator receptor expression, important in neutrophil recruitment, has been found to be mediated through tyrosine phosphorylation of phosphoglycerate