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The protein encoded by PMM2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Additionally we are shipping PMM2 Antibodies (55) and PMM2 Proteins (18) and many more products for this protein.
Morphant embryos had developmental abnormalities consistent with Congenital disorder of glycosylation resulting from mutations in pmm2, including craniofacial defects and impaired motility associated with altered motor neurogenesis.
The data show for the first time that a knockdown of phosphomannomutase 2 influences in vivo the non-canonical Wnt (show WNT2 ELISA Kits) signalling during early embryogenesis.
work describes the functional analysis of 9 PMM2 mutant proteins frequently found in congenital disorder of glycosylation type Ia(PMM2-CDG)patients; results suggest that some loss-of-function mutations detected in PMM2-CDG patients could be destabilizing
A mild neurological phenotype of PMM2-CDG marked by preserved ambulatory ability and autonomy and associated with L32R mutation is particularly frequent in Italy.
Data indicate genome-wide significant association at multiple single nucleotide polymorphism (SNPs) near ATP binding cassette transporter 1 (ABCA1 (show ABCA1 ELISA Kits)) at 9q31.1 and suggestive evidence of association in phosphomannomutase 2 (PMM2) at 16p13.2.
We conclude that electroretinogram signs of on-pathway dysfunction can be detected in the early stages of PMM2-Congenital disorder of glycosylation.
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia with PMM2 mutations in two siblings.
The presence of this deletion-insertion mutation at cDNA position 565 suggests that this site in the PMM2 gene may be a hotspot for chromosomal breakage.
A Japanese patient with congenital disorder of glycosylation type Ia had a novel nonsense mutation (R194X) in the PMM2 gene.
enzymatic activity of PMM2 is upregulated by insulin (show INS ELISA Kits) treatment and that Sgk1 (show SGK1 ELISA Kits) completely inhibits PMM2 activity both in the absence and in the presence of insulin (show INS ELISA Kits) stimulation.
11 novel mutations in the PMM2 gene are described as associated with Congenital disorder of Glycosylation type Ia.
Based on SNP and STR (show STATH ELISA Kits) genotypic analysis, we ascertained an association between the R141H substitution and a particular haplotype, suggesting a common origin for all the mutated chromosomes.
Pmm2 activity in jejunum increased during the early stages of life, and it decreased at 1 month old, as does the amount of mannose incorporated into glycoproteins, whereas in the ileum, they were not affected by age.
Pmm2 immunoreactivity seen in prenatal brain until postnatal and adult stage and restricted in neuronal cell bodies.
These results indicate that Pmm2 is essential for early development of mice.
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.
, phosphomannose isomerase 1
, PMM 2