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enpp1 can exert its function in tissues that are remote from its site of expression.
Results identified four mutants (p.Tyr471Cys, p.Ser504Arg, p.Tyr659Cys, p.His777Arg) in ENPP1 gene with residual NPP activity, inorganic pyrophosphate generation and plasma membrane localization.
The ENPP1 rs1044498 SNP is associated with T2D.
Results suggest that heterozygous mutations in the SMB domains of ENPP1 are necessary, but not always sufficient in themselves to cause Cole disease.
The K121Q polymorphism of ENPP1 shows no direct correlation with metabolic syndrome in Han Chinese.
Our findings demonstrate that ENPP1, TCF7L2 (Montrer TCF7L2 Protéines), and FTO (Montrer FTO Protéines) may predispose to T2DM in the mixed-ancestry population.
In this exploratory analysis, IRS1 (Montrer IRS1 Protéines), ENNP1 and TRIB3 (Montrer TRIB3 Protéines), known to be associated with type 2 diabetes and harboring genes playing a prominent role in mediating insulin (Montrer INS Protéines) signaling, may modulate a number of cardiometabolic phenotypes in patients of Italian ancestry with newly-diagnosed type 2 diabetes.
we found that patients with severe asthma exacerbation had reduced activity of leukocyte ectonucleotidases and reduced expression of E-NPP1 in PMNs.
A rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme.
Loss of function mutation in ENPP1 is associated with early onset hearing loss in autosomal recessive hypophosphatemic rickets.
ENPP1 was also identified as a substrate of the 26S proteasome (Montrer Psmd4 Protéines), the activity of which is downregulated in CSCs
Results show that urine pyrophosphate (PPI) levels are increased in Npt2a (Montrer SLC34A1 PLURAL_@42908@)-/- mice when compared to WT, possibly to protect from renal mineralization in the setting of hyperphosphaturia. However, the presence of two hypomorphic Enpp1asj/asj (Montrer ARSJ PLURAL_@42908@) alleles decreases urine PPi and worsens renal calcium phosphate deposit formation in Npt2a (Montrer SLC34A1 PLURAL_@42908@)-/- mice.
identified ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) as the first known mammalian enzyme lacking a NUDIX domain to generate pR from ADP-ribose on modified proteins in vitro
Vitamin D3 regulates Enpp1 expression, which presumably, in the context of adequate tissue non-specific alkaline phosphatase activity, provides phosphate to stimulate mineralisation.
ENPP1-Fc fusion protein prevents the mortality, vascular calcifications and sequela of disease in mouse models of generalized arterial calcification of infancy.
Expression of NPP1 and 5'-nucleotidase (Montrer ACPP Protéines) by valve interstitial cells promotes the mineralization of the aortic valve through A2aR (Montrer ADORA2A Protéines) and a cAMP/PKA/CREB (Montrer CREB1 Protéines) pathway.
Increased NPP1 expression and activity might contribute to the decreased mineralisation observed when osteoblasts are exposed to acid conditions.
NPP1 has a role in obesity and diabetes in a mouse model
we have characterized the phenotypic and histopathologic features of this spontaneous mutant mouse, designated as asj (Montrer ARSJ Protéines)-2J, and we have identified a large deletion/insertion mutation in the Enpp1 gene
these data highlight the key role of NPP1 in regulating calcification of both soft and skeletal tissues.
ENPP1 2'3'-cGAMP-hydrolyzing activity is repsonsible for tumor progression in humans and mice.
This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance.
ectonucleotide pyrophosphatase/phosphodiesterase 1
, ectonucleotide pyrophosphatase/phosphodiesterase family member 1
, ectonucleotidase enpp1
, E-NPP 1
, Ly-41 antigen
, alkaline phosphodiesterase 1
, membrane component chromosome 6 surface marker 1
, membrane component, chromosome 6, surface marker 1
, phosphodiesterase I/nucleotide pyrophosphatase 1
, plasma-cell membrane glycoprotein 1
, plasma-cell membrane glycoprotein PC-1
, 1 ectonucleotide pyrophosphatase/phosphodiesterase 1
, lymphocyte antigen 41
, phosphodiesterase I/nucleotide pyrophosphatase 1; 1 ectonucleotide pyrophosphatase/phosphodiesterase 1
, tiptoe walking