| Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX. | Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX.
Novakova Z, Mikesova J, Ondrakova M, Kutil Z, Vesela K, Martasek P, Barinka C. | 02/12/2022 |
| The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity. | The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity.
Wang B, Zhang Z, Zhu H, Niu C, Wen X, Xi Z. | 08/7/2021 |
| Two new mutations in the PPOX gene in a patient with variegate porphyria. | Two new mutations in the PPOX gene in a patient with variegate porphyria.
Collantes-Rodríguez C, de la Varga-Martínez R, Villegas-Romero I, Jiménez-Gallo D, Linares-Barrios M, Mora-López F. | 12/26/2020 |
| Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 54 unrelated Variegate Porphyria individuals with 20 PPOX novel mutations. | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ. | 07/4/2020 |
| The genetic test showed a heterozygous mutation in the gene encoding Protoporphyrinogen Oxidase (PPOX); c.2T > A (p.Met1Lys) on chromosome 1q23, which supports the diagnosis of Variegate Porphyria | An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia.
Depetri F, Cugno M, Graziadei G, Di Pierro E, Granata F, Peyvandi F, Cappellini MD. | 06/1/2019 |
| the regulation of PPOX gene expression can also occur through a post-transcriptional modulation of the amount of gene product and this modulation can be mediated by 5' untranslated exon 1. | The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
Fiorentino V, Brancaleoni V, Granata F, Graziadei G, Di Pierro E. | 01/13/2018 |
| GAPDH and protoporphyrinogen oxidase were shown to have higher expression in faster growing cell lines and primary tumors. Pharmacologic inhibition of GAPDH or PPOX reduced the growth of colon cancer cells in vitro | Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.
Bazzocco S, Dopeso H, Carton-Garcia F, Macaya I, Andretta E, Chionh F, Rodrigues P, Garrido M, Alazzouzi H, Nieto R, Sanchez A, Schwartz S Jr, Bilic J, Mariadason JM, Arango D. | 06/28/2016 |
| Variegate porphyria is the result of decreased protoporphyrinogen oxidase activity. Diet supplementation with vitamins E and C restores PPOX gene expression in lymphocytes of variegate porphyria patients. | Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
Ferrer MD, Tauler P, Sureda A, Palacín C, Tur JA, Pons A. | 03/2/2016 |
| in the hepatic cancer tissue of two acute porphyria patients, somatic second-hit mutations result in nearly complete inactivation of PPOX and HMBS | Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J. | 12/12/2015 |
| The mutation 1082-1083insC(1 base pair insertion at position 1082) in exon 10 of the PPOX gene was prevalent in the Swiss population. | Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Van Tuyll Van Serooskerke AM, Schneider-Yin X, Schimmel RJ, Bladergroen RS, Poblete-Gutiérrez P, Barman J, van Geel M, Frank J, Minder EI. | 12/28/2013 |
| The c.851G>T and the c.1013C>G of PPOX gene were found in two and four unrelated families respectively. 1 experienced only photosensitivity, 1 only neurological symptoms and the 2 both clinical manifestations. | Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy.
Di Pierro E, Ventura P, Brancaleoni V, Moriondo V, Marchini S, Tavazzi D, Nascimbeni F, Ferrari MC, Rocchi E, Cappellini MD. | 12/28/2013 |
| findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with variegate prophyria | Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
Barbaro M, Kotajärvi M, Harper P, Floderus Y., Free PMC Article | 07/27/2013 |
| VP-causing mutation affect the catalytic activity of hPPO by affecting the ability of hPPO to sample the privileged conformations | Quantitative structural insight into human variegate porphyria disease.
Wang B, Wen X, Qin X, Wang Z, Tan Y, Shen Y, Xi Z., Free PMC Article | 06/29/2013 |
| sequenced 27 members of a family with variegate porphyria with a T>A transversion at the intron 6 consensus splicing site in 8 patients and 4 SNPs: c.-414A>C; IVS2+121G>C; c.1188G>A and IVS12+34C>T | Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.
Bonnin A, Picornell A, Orfila J, Castro JA, Ramon MM. | 01/12/2013 |
| data deliver further confirmation that the South African and Dutch variegate porphyria families carrying mutation p.R59W shared a common ancestor. | Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J. | 03/31/2012 |
| Forty-seven variegate porphyria-causing mutations were purified by chromatography and kinetically characterized in vitro. | Structural insight into human variegate porphyria disease.
Qin X, Tan Y, Wang L, Wang Z, Wang B, Wen X, Yang G, Xi Z, Shen Y. | 04/9/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| GATA-1 binding sites in exon 1 constitute key regulatory elements in differential expression of PPOX in erythroid and non-erythroid cells. | GATA-1 binding sites in exon 1 direct erythroid-specific transcription of PPOX.
de Vooght KM, van Wijk R, van Solinge WW. | 01/21/2010 |
| Modulation of penetrance by the wild-type allele in dominantly inherited erythrohepatic and acute hepatic porphyrias was studied using PPOX. | Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. | 01/21/2010 |
| Information required for targeting to the mitochondria is contained within the first 250 amino acid residues of human PPOX. | Identification of sequences required for the import of human protoporphyrinogen oxidase to mitochondria.
Morgan RR, Errington R, Elder GH., Free PMC Article | 01/21/2010 |
| This enzyme in its regular and mutagenized forms is targeted to mitochondria when transfected. | Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.
von und zu Fraunberg M, Nyröen T, Kauppinen R. | 01/21/2010 |
| Protoporphyrinogen oxidase targeting mechanism to the mitochondrion. | Mitochondrial targeting of human protoporphyrinogen oxidase.
Davids LM, Corrigall AV, Meissner PN. | 01/21/2010 |
| Mutation in protoporphyrinogen oxidase is associated with variegate porphyria | Swiss patients with variegate porphyria have unique mutations.
Schneider-Yin X, Minder EI. | 01/21/2010 |
| Two previously undescribed mutations were identified: PPOX1423-1426-delATCT and PPOX2272insG. | Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
Donnelly JG, Detombe S, Hindmarsh JT. | 01/21/2010 |