The first disc was treated with 30 [micro]L of ASM cocktail, the second one with 30 [micro]L 5-plex cocktail containing S and IS for ABG, GAA, GLA, GALC, and IDUA.
Liquid calibrators for ABG, ASM, GAA, GALC, GLA, and IDUA at 7 different P/IS ratios (0, 0.
Presents an autosomal recessive trait, due to deficiency or absence of lysosomal hydrolase-iduronidase enzyme activity encoded in the IDUA gene, which has been mapped in 4p16.
Molecular analysis of the IDUA gene detected a mutation deletion type of guanine at the splicing site c.
They discovered that tagging some of the apoE components to the IDUA
enzyme allowed the modified protein to attach to endothelial cells and cross through the cells to reach brain tissues.
They successfully used what is called a viral vector (in this case a lentivirus) to insert a healthy version of the IDUA gene into early stage red blood cell cultures, and a hybrid promoter gene, to prompt the cells to produce the IDUA enzyme.
Encouraged by the initial cell experiments, the research team next cultured hematopoietic stem cells taken from mouse models of MPS I by using the same hybrid promoter gene from the earlier experiments to reprogram the stem cells to produce IDUA.
is present in the lysosomes of cells, where it helps break down large biomolecules called mucopolysaccharides.
OPKO has a proprietary AntagoNAT technology platform which involves designing specific oligonucleotide molecules to target a non-coding Natural Antisense Transcript of a target gene resulting in up-regulation of the targeted gene to increase production of a protein, such as IDUA
5 shows the distribution of specific activity for GLA, GAA, and IDUA
enzymes when measured with the 9-plex assay and 58 DBS from random newborns and 22 LSD-affected individuals (not newborns but older patients).
The enzyme activity of IDUA
was low in sodium citrate and sodium citrate-phosphate buffers at all pH values, so sodium formate was chosen as the preferred buffer salt.
is crucial for degradation of glycosaminoglycans such as dermatan and heparan sulfate.