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Disease on EC 1.3.3.4 - protoporphyrinogen oxidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
Protoporphyrinogen oxidase is involved in the fluorescence intensity of 5-aminolevulinic acid-mediated laser-based photodynamic endoscopic diagnosis for early gastric cancer.
Anemia
The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
Anemia, Hypochromic
montalcino, A zebrafish model for variegate porphyria.
Carcinogenesis
?-catenin Mutations Are Not Involved in Early-stage Hepatocarcinogenesis Induced by Protoporphyrinogen Oxidase Inhibitors in Mice.
Carcinoma
Protoporphyrinogen oxidase is involved in the fluorescence intensity of 5-aminolevulinic acid-mediated laser-based photodynamic endoscopic diagnosis for early gastric cancer.
Carcinoma, Hepatocellular
Hepatocellular carcinoma in variegate porphyria: a serious complication.
Colonic Neoplasms
Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.
Congenital Abnormalities
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
Coproporphyria, Hereditary
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
The porphyrias.
Dehydration
Stress effects of flumioxazin herbicide on grapevine ( Vitis vinifera L.) grown in vitro.
Genetic Diseases, Inborn
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Glioblastoma
Protoporphyrin IX fluorescence kinetics in C6 glioblastoma cells after delta-aminolevulinic acid incubation: effect of a protoporphyrinogen oxidase inhibitor.
Glioma
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Heart Septal Defects, Ventricular
Different effects of an N-phenylimide herbicide on heme biosynthesis between human and rat erythroid cells.
Histological changes in rat embryonic blood cells as a possible mechanism for ventricular septal defects produced by an N-phenylimide herbicide.
Mechanism of Developmental Effects in Rats Caused by an N-Phenylimide Herbicide: Transient Fetal Anemia and Sequelae during Mid-to-Late Gestation.
hydroxymethylbilane synthase deficiency
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Intellectual Disability
Molecular characterization of homozygous variegate porphyria.
Leukemia, Erythroblastic, Acute
Cloning, sequence, and expression of mouse protoporphyrinogen oxidase.
Liver Diseases, Alcoholic
Coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase activities in human liver biopsies with special reference to alcoholic liver disease.
Liver Neoplasms
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Metabolic Diseases
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
Diagnosis of variegate porphyria--hard to get?
Neoplasms
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.
Involvement of Mouse Constitutive Androstane Receptor in Acifluorfen-Induced Liver Injury and Subsequent Tumor Development.
Photodynamic therapy using a protoporphyrinogen oxidase inhibitor.
RRM analysis of protoporphyrinogen oxidase.
Systems biology analysis of hepatitis C virus infection reveals the role of copy number increases in regions of chromosome 1q in hepatocellular carcinoma metabolism.
Photosensitivity Disorders
Molecular characterization of homozygous variegate porphyria.
Porphyria, Acute Intermittent
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Acute porphyrias in the Argentinean population: a review.
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Chester porphyria: biochemical studies of a new form of acute porphyria.
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
The porphyrias.
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Porphyria, Variegate
A case of association between hepatocellular carcinoma and porphyria variegata.
A Case Report of Porphyria Variegata Management in the Emergency Department.
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
Acute porphyrias in the Argentinean population: a review.
Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Characterisation of the flavin adenine dinucleotide binding region of
Chester porphyria: biochemical studies of a new form of acute porphyria.
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
Cloning and characterization of the yeast HEM14 gene coding for protoporphyrinogen oxidase, the molecular target of diphenyl ether-type herbicides.
Coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase activities in human liver biopsies with special reference to alcoholic liver disease.
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Diagnosis of variegate porphyria--hard to get?
Effect of tiagabine and topiramate on porphyrin metabolism in an in vivo model of porphyria.
Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients.
Enzyme defects in the porphyrias and their relevance to the biochemical abnormalities in these disorders.
Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
Gene symbol: PPOX. Disease: Porphyria, variegate.
Gene symbol: PPOX. Disease: variegate porphyria.
Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Gne symbol: PPOX. Disease: variegate porphyria.
Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria.
Hepatocellular carcinoma in variegate porphyria: a case report and literature review.
Hepatocellular carcinoma in variegate porphyria: a serious complication.
Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.
Homozygous variegate porphyria. A severe skin disease of infancy.
Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.
King George III and porphyria: an elemental hypothesis and investigation.
Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.
Mitochondrial targeting of human protoporphyrinogen oxidase.
Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families.
Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Molecular characterization of homozygous variegate porphyria.
montalcino, A zebrafish model for variegate porphyria.
mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks.
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.
Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases.
Protoporphyrinogen oxidase and ferrochelatase in porphyria variegata.
Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria.
Protoporphyrinogen oxidase in porphyria variegata. A report of the findings in 7 families.
Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
Quantitative Structural Insight into Human Variegate Porphyria Disease.
Recovery from a variegate porphyria by a liver transplantation.
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
Swiss patients with variegate porphyria have unique mutations.
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts.
The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
The inherited enzymatic defect in porphyria variegata.
The porphyrias.
Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.
Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
Two new mutations in the PPOX gene in a patient with variegate porphyria.
Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease.
Variegate porphyria in Western Australian Aboriginal patients.
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Variegate porphyria.
Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
Variegate porphyria: past, present and future.
[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile]
[Solarium-induced pseudoporphyria and variegate porphyria as rare differential diagnoses of porphyria cutanea tarda]
Porphyrias
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
Characterization of Variegate Porphyria Mutations Using a Minigene Approach.
Chester porphyria: biochemical studies of a new form of acute porphyria.
Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria.
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.
Gene symbol: PPOX. Disease: Porphyria, variegate.
Gene symbol: PPOX. Disease: variegate porphyria.
Gne symbol: PPOX. Disease: variegate porphyria.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
Protoporphyrinogen oxidase as a molecular target for diphenyl ether herbicides.
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Swiss patients with variegate porphyria have unique mutations.
The porphyrias.
The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria.
Porphyrias, Hepatic
A Case Report of Porphyria Variegata Management in the Emergency Department.
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Hepatocellular carcinoma in variegate porphyria: a serious complication.
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
Recovery from a variegate porphyria by a liver transplantation.
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
The porphyrias.
Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.
Variegate porphyria: past, present and future.
Protoporphyria, Erythropoietic
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases.
The porphyrias.
protoporphyrinogen oxidase deficiency
Cloning and characterization of the yeast HEM14 gene coding for protoporphyrinogen oxidase, the molecular target of diphenyl ether-type herbicides.
Molecular characterization of homozygous variegate porphyria.
Seizures
Molecular characterization of homozygous variegate porphyria.
Skin Diseases
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease.
Stomach Neoplasms
Protoporphyrinogen oxidase is involved in the fluorescence intensity of 5-aminolevulinic acid-mediated laser-based photodynamic endoscopic diagnosis for early gastric cancer.