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Disease on EC 2.7.7.8 - polyribonucleotide nucleotidyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
Analysis of Global Changes in Gene Expression Induced by Human Polynucleotide Phosphorylase (hPNPase(old-35) ).
Anemia, Pernicious
Genome-wide association study identifies five risk loci for pernicious anemia.
Brain Diseases
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Carcinoma
Occurrence of polynucleotide phosphorylase in atypical epithelioma of rat.
Carcinoma, Hepatocellular
[mRNA breakdown in tumor cells in vivo under cycloheximide protein synthesis inhibition]
[The activity of polynucleotide phosphorylase in polyribosomes of regenerating liver of adult rats, liver of newborn rats and in some reinoculated tumours]
Carney Complex
Expression regulation and genomic organization of human polynucleotide phosphorylase, hPNPase(old-35), a Type I interferon inducible early response gene.
Colonic Neoplasms
Analysis of Global Changes in Gene Expression Induced by Human Polynucleotide Phosphorylase (hPNPase(old-35) ).
Colorectal Neoplasms
Expression regulation and genomic organization of human polynucleotide phosphorylase, hPNPase(old-35), a Type I interferon inducible early response gene.
Colorectal Neoplasms, Hereditary Nonpolyposis
Expression regulation and genomic organization of human polynucleotide phosphorylase, hPNPase(old-35), a Type I interferon inducible early response gene.
Cough
PNPT1 and PCGF3 variants associated with angiotensin-converting enzyme inhibitor-induced cough: a nested case-control genome-wide study.
Cysts
Analysis of Global Changes in Gene Expression Induced by Human Polynucleotide Phosphorylase (hPNPase(old-35) ).
Deafness
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Genetic Diseases, Inborn
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
Hearing Loss
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
Hearing Loss, Sensorineural
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
Hypersensitivity
Accumulation and turnover of 23S ribosomal RNA in azithromycin-inhibited ribonuclease mutant strains of Escherichia coli.
Infections
Polynucleotide phosphorylase independently controls virulence factor expression levels and export in Yersinia spp.
Polynucleotide phosphorylase is a global regulator of virulence and persistency in Salmonella enterica.
Leigh Disease
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
Leukoencephalopathies
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Melanoma
Activation of double-stranded RNA dependent protein kinase, a new pathway by which human polynucleotide phosphorylase (hPNPase(old-35)) induces apoptosis.
Analysis of Global Changes in Gene Expression Induced by Human Polynucleotide Phosphorylase (hPNPase(old-35) ).
Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence.
Defining the mechanism by which IFN-beta dowregulates c-myc expression in human melanoma cells: pivotal role for human polynucleotide phosphorylase (hPNPaseold-35).
Down-regulation of Myc as a potential target for growth arrest induced by human polynucleotide phosphorylase (hPNPaseold-35) in human melanoma cells.
Expression regulation and genomic organization of human polynucleotide phosphorylase, hPNPase(old-35), a Type I interferon inducible early response gene.
Human polynucleotide phosphorylase (hPNPaseold-35): a potential link between aging and inflammation.
Human polynucleotide phosphorylase selectively and preferentially degrades microRNA-221 in human melanoma cells.
Identification and cloning of human polynucleotide phosphorylase, hPNPase old-35, in the context of terminal differentiation and cellular senescence.
Identification of genes potentially regulated by human polynucleotide phosphorylase (hPNPase old-35) using melanoma as a model.
Microcephaly
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Mitochondrial Diseases
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Mouth Neoplasms
RNA binding protein FXR1-miR301a-3p axis contributes to p21WAF1 degradation in oral cancer.
Neoplasms
Acute lymphoblastic leukemia-derived dendritic cells express tumor associated antigens: PNPT1, PMPCB, RHAMM, BSG and ERCC1.
Adenine nucleotide breakdown and its relationship to polynucleotide phosphorylase in the crown-gall tumor inducing organism Agrobacterium tumefaciens.
Analysis of Global Changes in Gene Expression Induced by Human Polynucleotide Phosphorylase (hPNPase(old-35) ).
Defining the mechanism by which IFN-beta dowregulates c-myc expression in human melanoma cells: pivotal role for human polynucleotide phosphorylase (hPNPaseold-35).
Human polynucleotide phosphorylase selectively and preferentially degrades microRNA-221 in human melanoma cells.
Neoadjuvant chemotherapy in Barrett's carcinoma - prognosis and response prediction.
Progression elevated gene-3 promoter (PEG-Prom) confers cancer cell selectivity to human polynucleotide phosphorylase (hPNPase(old-35))-mediated growth suppression.
[The activity of polynucleotide phosphorylase in polyribosomes of regenerating liver of adult rats, liver of newborn rats and in some reinoculated tumours]
Neuroblastoma
Adenovirus-mediated hPNPase(old-35) gene transfer as a therapeutic strategy for neuroblastoma.
Pancreatic Neoplasms
A Novel Redox Modulator Induces a GPX4-Mediated Cell Death That Is Dependent on Iron and Reactive Oxygen Species.
Progression elevated gene-3 promoter (PEG-Prom) confers cancer cell selectivity to human polynucleotide phosphorylase (hPNPase(old-35))-mediated growth suppression.
Persistent Infection
Polynucleotide phosphorylase is a global regulator of virulence and persistency in Salmonella enterica.
Polynucleotide phosphorylase negatively controls spv virulence gene expression in Salmonella enterica.
Poliomyelitis
The structure of poliovirus replicative form.
polyribonucleotide nucleotidyltransferase deficiency
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Retinal Dystrophies
Expression regulation and genomic organization of human polynucleotide phosphorylase, hPNPase(old-35), a Type I interferon inducible early response gene.
ribonuclease t2 deficiency
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Sarcoma
[Capacity of the polynucleotide phosphorylase-releasing factor to stimulate hybrid cell growth]
[Purification and properties of a releasing factor of polynucleotide phosphorylase from sarcoma M-1 of rat]
Seizures
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Starvation
A role for a bacterial ortholog of the Ro autoantigen in starvation-induced rRNA degradation.
Accumulation of nucleotides by starved Escherichia coli cells as a probe for the involvement of ribonucleases in ribonucleic acid degradation.
The involvement of ribonuclease I, ribonuclease II, and polynucleotide phosphorylase in the degradation of stable ribonucleic acid during carbon starvation in Escherichia coli.
Tuberculosis
Polynucleotide phosphorylase of Mycobacterium tuberculosis H37Rv.
Vesicular Stomatitis
Sequences of vesicular stomatitis virus RNA in the region coding for leader RNA, N protein mRNA, and their junction.