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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 (69) and and many more products for this protein.
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The up-regulation of gstp1 (show GSTP1 Proteins) by the pmm2 inactivation was diminished by knocking down or out double-stranded RNA-activated protein kinase (PKR (show EIF2AK2 Proteins))-like ER kinase.
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 Proteins) signalling during early embryogenesis.
The biochemical analysis of mutants does not allow a precise genotypephenotype correlation for PMM2-Type I disorders of glycosylation. PMM2 is very tolerant to missense and loss of function mutations, suggesting that a partial deficiency of activity might be beneficial under certain circumstances.
PMM2-CDG clinical phenotype is heterogeneous in terms of clinical course, with no clear division between neurological and visceral presentations.
Four patients were diagnosed with PMM2-CDG at the age of 8 years or later as their neurological symptoms were quite mild and they had been able to participate in regular school programs. We report patients with p.Val231Met/p.Arg239Trp and p.Ile120Thr/p.Gly228Cys genotypes which may cause milder variants of PMM2-CDG
This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease.
We propose that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. Our findings extend the spectrum of genetic causes for both HI and PKD (show PRKD1 Proteins) and provide insights into gene regulation and PMM2 pleiotropy
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 Proteins)) 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.
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