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The protein encoded by PNPT1 belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. Additionally we are shipping Polyribonucleotide Nucleotidyltransferase 1 Antibodies (101) and many more products for this protein.
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The PNPT1 p.Arg136His and p.Pro140Leu variants in our subject showed 1) the mutated amino acids are highly conserved and our structural analysis supported them to be functionally deleterious; 2) The carrier frequencies of the variants are very low in populations (1:60.000), with no homozygous carriers found; 3) The RC complex amounts in the subject's myoblasts were functionally rescued by expression of wild-type PNPT1.
Inhibition of homologous PNPase by citrate may represent an evolutionarily conserved communicative link between RNA degradation and central metabolism.
In vitro rescue experiments, using exogenous expression of wild-type PNPT1 in patient fibroblasts, ameliorated the deficiencies in the OXPHOS complex protein expression, supporting the likely pathogenicity of these variants and the importance of Whole-exome sequencingin efficiently identifying rare genetic disease genes
this study provides further evidence that hPNPase(old-35) is associated with global changes in cell cycle-associated genes and identifies potential gene targets for future investigation
fresh insight into cellular pathways regulated by PNPT1
Interaction between PNPase and hSuv3 is essential for efficient mitochondrial RNA degradation.
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
a novel role of nEGFR in radioresistance, and that is, upon ionizing radiation, nEGFR inactivates the ribonuclease activity of PNPase toward c-MYC (show MYC Proteins) mRNA through DNAPK (show PRKDC Proteins)-mediated Ser (show SIGLEC1 Proteins)-776 phosphorylation
targeted overexpression of hPNPase(old-35) represents a novel strategy to selectively downregulate RNA expression and consequently intervene in a variety of pathophysiological conditions
The data support an unanticipated role for PNPASE in mediating the translocation of RNAs into mitochondria
The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7.
polyribonucleotide nucleotidyltransferase 1, mitochondrial
, 3'-5' RNA exonuclease OLD35
, PNPase 1
, PNPase old-35
, polynucleotide phosphorylase 1
, polynucleotide phosphorylase-like protein