Reference on EC 4.2.1.75 - uroporphyrinogen-III synthase
Please use the Reference Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Hart, G.J.; Battersby, A.R.
Purification and properties of uroporphyrinogen III synthase (co-synthase) from Euglena gracilis
Biochem. J.
232
151-160
1985
Euglena gracilis
Tsai, S.F.; Bishop, D.F.; Desnick, R.J.
Purification and properties of uroporphyrinogen III synthase from human erythrocytes
J. Biol. Chem.
262
1268-1273
1987
BRENDA: Homo sapiens
Textmining: Porphyria
Clement, R.P.; Kohashi, M.; Piper, W.N.
Rat hepatic uroporphyrinogen III cosynthase: Purification, properties and inhibition by metal ions
Arch. Biochem. Biophys.
214
657-667
1982
BRENDA: Rattus norvegicus
Textmining: Rattus
Kohashi, M.; Clement, R.P.; Tse, J.; Piper, W.N.
Rat hepatic uroporphyrinogen III co-synthase. Purification and evidence for a bound folate coenzyme participating in the biosynthesis of uroprphyrinogen III
Biochem. J.
220
755-765
1984
BRENDA: Rattus norvegicus
Textmining: Rattus
Alwan, A.F.; Jordan, P.M.
Isolation of uroporphyrinogen III synthase from Escherichia coli
Biochem. Soc. Trans.
16
965-966
1988
Escherichia coli
-
Smythe, E.; Williams, D.C.
Rat liver uroporphyrinogen III synthase has similar properties to the enzyme from Euglena gracilis, including absence of a requirement for a reversibly bound cofactor for activity
Biochem. J.
253
275-279
1988
BRENDA: Rattus norvegicus
Textmining: Euglena gracilis, Rattus
Levin, E.Y.
Enzymatic properties of uroporphyrinogen III cosynthetase
Biochemistry
10
4669-4675
1971
Mus musculus
Wright, D.J.; Lim, C.K.
Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography
Biochem. J.
213
85-88
1983
Homo sapiens
Frydman, R.B.; Feinstein, G.
Studies on porphobilinogen deaminase and uroporphyrinogen III cosynthase from human erythrocytes
Biochim. Biophys. Acta
350
358-373
1974
Homo sapiens
Stevens, E.; Frydman, B.
Isolation and properties of wheat germ uroporphyrinogen III cosynthase
Biochim. Biophys. Acta
151
429-437
1968
Triticum aestivum
Jordan, P.M.; Berry, A.
Preuroporphyrinogen, a universal intermediate in the biosynthesis of uroporphyrinogen III
FEBS Lett.
112
86-88
1980
Saccharomyces cerevisiae, Gallus gallus, Cereibacter sphaeroides
Sasarman, A.; Nepveu, A.; Echelard, Y.; Dymetryszyn, J.; Drolet, M.; Goyer, C.
Molecular cloning and sequencing of the hemD gene of Escherichia coli K-12 and preliminary data on the uro operon
J. Bacteriol.
169
4257-4262
1987
Escherichia coli
Stamford, N.P.J.; Capretta, A.; Battersby, A.R.
Expression, purification and characterisation of the product from the Bacillus subtilis hemD gene, uroporphyrinogen III synthase
Eur. J. Biochem.
231
236-241
1995
BRENDA: Bacillus subtilis
Textmining: Escherichia virus Lambda
Alwan, A.F.; Mgbeje, B.I.A.; Jordan, P.M.
Purification and properties of uroporphyrinogen III synthase (co-synthase) from an overproducing recombinant strain of Escherichia coli K-12
Biochem. J.
264
397-402
1989
BRENDA: Escherichia coli
Textmining: Escherichia coli K-12, plasmids
Kohashi, M.
Folate binding protein in the heme biosynthesis. Purification and evidence for a bound folate coenzyme participating in the biosynthesis of uroporphyrinogen III
Vitamins (Kyoto)
62
541-547
1988
Rattus norvegicus
-
Stark, W.M.; Hawker, C.J.; Hart, G.J.; Philippides, A.; Petersen, P.M.; Lewis, J.D.; Leeper, F.J.; Battersby, A.R.
Biosnthesis of porphyrins and related macrocycles. Part 40. Synthesis of a spiro-lactam related to the proposed spiro intermediate for porphyrin biosynthesis: Inhibition of cosynthetase
J. Chem. Soc. Perkin Trans. I
1993
2875-2892
1993
Euglena gracilis
-
Stark, W.M.; Hart, G.J.; Battersby, A.R.
Synthetic studies on the proposed spiro intermediate for biosynthesis of the natural porphyrins: Inhibition of cosynthetase
J. Chem. Soc. Chem. Commun.
1986
465-467
1986
Euglena gracilis
-
Stamford, N.P.J.; Crouzet, J.; Cameron, B.; Alanine, A.I.D.; Pitt, A.R.; Yeliseev, A.A.; Battersby, A.R.
Biosynthesis of vitamin B12: the preparative multi-enzyme synthesis of precorrin-3A and 20-methylsirohydrochlorin (a 2,7,20-trimethylisobacteriochlorin)
Biochem. J.
313
335-342
1996
Escherichia coli, Bacillus subtilis, Pseudomonas denitrificans (nom. rej.)
Araujo, L.S.; Lombardo, M.E.; Batlle, A.M.D.C.
Inhibition of porphobilinogenase by porphyrins in Saccharomyces cerevisiae
Int. J. Biochem.
26
1377-1381
1994
Saccharomyces cerevisiae
Schubert, H.L.; Raux, E.; Matthews, M.A.; Phillips, J.D.; Wilson, K.S.; Hill, C.P.; Warren, M.J.
Structural diversity in metal ion chelation and the structure of uroporphyrinogen III synthase
Biochem. Soc. Trans.
30
595-600
2002
BRENDA: Homo sapiens
Textmining: Bacillus subtilis, Saccharomyces cerevisiae
Mathews, M.A.; Schubert, H.L.; Whitby, F.G.; Alexander, K.J.; Schadick, K.; Bergonia, H.A.; Phillips, J.D.; Hill, C.P.
Crystal structure of human uroporphyrinogen III synthase
EMBO J.
20
5832-5839
2001
BRENDA: Homo sapiens (P10746), Homo sapiens
Textmining: Porphyria
Roessner, C.A.; Ponnamperuma, K.; Scott, A.I.
Mutagenesis identifies a conserved tyrosine residue important for the activity of uroporphyrinogen III synthase from Anacystis nidulans
FEBS Lett.
525
25-28
2002
BRENDA: Synechococcus elongatus PCC 7942 = FACHB-805
Textmining: Escherichia coli, cyanobacterium
Bishop, D.F.; Johansson, A.; Phelps, R.; Shady, A.A.; Ramirez, M.C.; Yasuda, M.; Caro, A.; Desnick, R.J.
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions
Am. J. Hum. Genet.
78
645-658
2006
BRENDA: Mus musculus (P51163), Mus musculus
Textmining: Homo sapiens, Mus sp., Porphyria
Omata, Y.; Sakamoto, H.; Higashimoto, Y.; Hayashi, S.; Noguchi, M.
Purification and characterization of human uroporphyrinogen III synthase expressed in Escherichia coli
J. Biochem.
136
211-220
2004
BRENDA: Homo sapiens (P10746), Homo sapiens
Textmining: Escherichia coli
Hanaoka, R.; Dawid, I.B.; Kawahara, A.
Cloning and expression of zebrafish genes encoding the heme synthesis enzymes uroporphyrinogen III synthase (UROS) and protoporphyrinogen oxidase (PPO)
DNA Seq.
18
54-60
2007
BRENDA: Danio rerio (Q1ET39), Danio rerio
Textmining: Homo sapiens, Mammalia
Wiederholt, T.; Poblete-Gutierrez, P.; Gardlo, K.; Goerz, G.; Bolsen, K.; Merk, H.F.; Frank, J.
Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria
Physiol. Res.
55
S85-S92
2006
Homo sapiens
-
Li, N.; Ma, D.L.; Liu, X.; Wu, L.; Chu, X.; Wong, K.Y.; Li, D.
Characterization of His-tagged rat uroporphyrinogen III synthase wild-type and variant enzymes
Protein J.
26
569-576
2007
BRENDA: Rattus norvegicus
Textmining: Rattus
Cunha, L.; Kuti, M.; Bishop, D.F.; Mezei, M.; Zeng, L.; Zhou, M.M.; Desnick, R.J.
Human uroporphyrinogen III synthase: NMR-based mapping of the active site
Proteins
71
855-873
2007
BRENDA: Homo sapiens (P10746), Homo sapiens
Textmining: Porphyria
Tan, F.; Cheng, Q.; Saha, K.; Heinemann, I.U.; Jahn, M.; Jahn, D.; Smith, A.G.
Identification and characterization of the Arabidopsis gene encoding the tetrapyrrole biosynthesis enzyme uroporphyrinogen III synthase
Biochem. J.
410
291-299
2008
BRENDA: Arabidopsis thaliana (O48721), Arabidopsis thaliana
Textmining: Arabidopsis, Escherichia coli, Saccharomyces cerevisiae, plasmids, Homo sapiens, plant
Lobo, S.A.; Brindley, A.; Warren, M.J.; Saraiva, L.M.
Functional characterization of the early steps of tetrapyrrole biosynthesis and modification in Desulfovibrio vulgaris Hildenborough
Biochem. J.
420
317-325
2009
Desulfovibrio vulgaris str. Hildenborough, bacterium, Transformation
Schubert, H.L.; Phillips, J.D.; Heroux, A.; Hill, C.P.
Structure and mechanistic implications of a uroporphyrinogen III synthase-product complex
Biochemistry
47
8648-8655
2008
Thermus thermophilus (Q72KM1), Thermus thermophilus, Thermus thermophilus HB27 / ATCC BAA-163 / DSM 7039 (Q72KM1)
Fortian, A.; Castano, D.; Ortega, G.; Lain, A.; Pons, M.; Millet, O.
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability
Biochemistry
48
454-461
2009
BRENDA: Homo sapiens (P10746), Homo sapiens
Textmining: Porphyria
Vargas, P.D.; Furuyama, K.; Sassa, S.; Shibahara, S.
Hypoxia decreases the expression of the two enzymes responsible for producing linear and cyclic tetrapyrroles in the heme biosynthetic pathway
FEBS J.
275
5947-5959
2008
Homo sapiens
Silva, P.J.; Ramos, M.J.
Comparative density functional study of models for the reaction mechanism of uroporphyrinogen III synthase
J. Phys. Chem. B
112
3144-3148
2008
Homo sapiens (P10746)
Bishop, D.F.; Schneider-Yin, X.; Clavero, S.; Yoo, H.W.; Minder, E.I.; Desnick, R.J.
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts
Blood
115
1062-1069
2010
BRENDA: Homo sapiens
Textmining: Porphyria
Clavero, S.; Bishop, D.F.; Haskins, M.E.; Giger, U.; Kauppinen, R.; Desnick, R.J.
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
Hum. Mol. Genet.
19
584-596
2010
Felis catus
Kang, T.; Oh, S.; Kim, M.; Lee, J.; Kim, S.
Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria
J. Eur. Acad. Dermatol. Venereol.
23
470-471
2009
BRENDA: Homo sapiens
Textmining: Porphyria
Ayliffe, M.A.; Agostino, A.; Clarke, B.C.; Furbank, R.; von Caemmerer, S.; Pryor, A.J.
Suppression of the barley uroporphyrinogen III synthase gene by a Ds activation tagging element generates developmental photosensitivity
Plant Cell
21
814-831
2009
Hordeum vulgare
Fortian, A.; Castano, D.; Gonzalez, E.; Lain, A.; Falcon-Perez, J.M.; Millet, O.
Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: Molecular basis of congenital erythropoietic porphyria
Adv. Protein Chem. Struct. Biol.
83
43-74
2011
BRENDA: Homo sapiens, Pseudomonas syringae (Q88B90)
Textmining: Porphyria
Peng, S.; Zhang, H.; Gao, Y.; Pan, X.; Cao, P.; Li, M.; Chang, W.
Crystal structure of uroporphyrinogen III synthase from Pseudomonas syringae pv. tomato DC3000
Biochem. Biophys. Res. Commun.
408
576-581
2011
BRENDA: Pseudomonas syringae (Q88B90), Pseudomonas syringae, Pseudomonas syringae DC3000 (Q88B90)
Textmining: Solanum lycopersicum, Pseudomonas syringae pv. tomato str. DC3000
Vannini, V.; Rodriguez, A.; Vera, J.L.; de Valdez, G.F.; Taranto, M.P.; Sesma, F.
Cloning and heterologous expression of Lactobacillus reuteri uroporphyrinogen III synthase/methyltransferase gene (cobA/hemD): preliminary characterization
Biotechnol. Lett.
33
1625-1632
2011
Limosilactobacillus reuteri (Q50EH6), Limosilactobacillus reuteri CRL 1098 (Q50EH6)
Fortian, A.; Gonzalez, E.; Castano, D.; Falcon-Perez, J.M.; Millet, O.
Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R
J. Biol. Chem.
286
13127-13133
2011
BRENDA: Homo sapiens
Textmining: Porphyria
Ben Bdira, F.; Gonzalez, E.; Pluta, P.; Lain, A.; Sanz-Parra, A.; Falcon-Perez, J.M.; Millet, O.
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria
Hum. Mol. Genet.
23
5805-5813
2014
BRENDA: Homo sapiens (P10746), Homo sapiens
Textmining: Porphyria
Moghbeli, M.; Maleknejad, M.; Arabi, A.; Abbaszadegan, M.R.
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria
Mol. Biol. Rep.
39
6731-6735
2012
BRENDA: Homo sapiens (P10746), Homo sapiens
Textmining: Porphyria
McNicholas, P.M.; Javor, G.; Darie, S.; Gunsalus, R.P.
Expression of the heme biosynthetic pathway genes hemCD, hemH, hemM, and hemA of Escherichia coli
FEMS Microbiol. Lett.
146
143-148
1997
Escherichia coli, Escherichia coli (C4ZUS9)
Aguilera, P.; Badenas, C.; Whatley, S.D.; To-Figueras, J.
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation
Br. J. Dermatol.
175
1346-1350
2016
BRENDA: Homo sapiens (P10746), Homo sapiens
Textmining: Porphyria
Szilagyi, A.; Gyoerffy, D.; Zavodszky, P.
Segment swapping aided the evolution of enzyme function The case of uroporphyrinogen III synthase
Proteins
85
46-53
2017
Homo sapiens (P10746), Thermus thermophilus (Q5SKH2), Thermus thermophilus (Q72KM1)
Smith, AG; Francis, JE; Kay, SJ; Greig, JB; Stewart, FP
Mechanistic studies of the inhibition of hepatic uroporphyrinogen decarboxylase in C57BL/10 mice by iron-hexachlorobenzene synergism.
Biochem J
238
871-8
1986
Mus sp., Porphyria
Rossetti, MV; Parera, VE; del C Batlle, AM
Porphyrin biosynthesis. Immobilized enzymes and ligands. VII. Studies on bovine liver porphobilinogenase.
Acta Physiol Lat Am
26
371-8
1976
Bos taurus
Batlle, AM; Wider de Xifra, EA; Stella, AM
A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria.
Int J Biochem
9
871-5
1978
Porphyria
Miczák, A; Prágai, B; Berek, I
Mapping the uroporphyrinogen III cosynthase locus in Bacillus subtilis.
Mol Gen Genet
174
293-5
1979
Bacillus subtilis
Warner, CA; Poh-Fitzpatrick, MB; Zaider, EF; Tsai, SF; Desnick, RJ
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
Arch Dermatol
128
1243-8
1992
Porphyria, Homo sapiens
Boulechfar, S; Da Silva, V; Deybach, JC; Nordmann, Y; Grandchamp, B; de Verneuil, H
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Hum Genet
88
320-4
1992
Escherichia coli, insertion sequences, Porphyria
Warner, CA; Yoo, HW; Roberts, AG; Desnick, RJ
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
J Clin Invest
89
693-700
1992
Porphyria, Homo sapiens
Nordmann, Y; Deybach, JC; de Verneuil, H; Boulechfar, S; Grandchamp, B
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
Curr Probl Dermatol
20
148-53
1991
Porphyria
Astrin, KH; Warner, CA; Yoo, HW; Goodfellow, PJ; Tsai, SF; Desnick, RJ
Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.
Hum Genet
87
18-22
1991
Homo sapiens
Navone, NM; Polo, CF; Frisardi, AL; Batlle, AM
Mouse mammary carcinoma porphobilinogenase and hydroxymethylbilane synthetase.
Comp Biochem Physiol B
98
67-71
1991
Mus musculus
Gumpel, NJ; Smith, AG
An improved purification procedure for uroporphyrinogen III synthase from Euglena gracilis.
Biochem Soc Trans
18
500-1
1990
Euglena gracilis
Deybach, JC; de Verneuil, H; Boulechfar, S; Grandchamp, B; Nordmann, Y
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
Blood
75
1763-5
1990
Porphyria, Homo sapiens
Araujo, LS; Lombardo, ME; Rossetti, MV; Batlle, AM
Saccharomyces cerevisiae porphobilinogenase: some physical and kinetic properties.
Comp Biochem Physiol B
92
297-301
1989
Saccharomyces cerevisiae
Juknat, AA; Kotler, ML; Koopmann, GE; Batlle, AM
Porphobilinogenase from Rhodopseudomonas palustris.
Comp Biochem Physiol B
92
291-5
1989
Rhodopseudomonas palustris
Tsai, SF; Bishop, DF; Desnick, RJ
Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.
Proc Natl Acad Sci U S A
85
7049-53
1988
Homo sapiens, Porphyria, Escherichia coli
Jordan, PM; Mgbeje, BI; Thomas, SD; Alwan, AF
Nucleotide sequence for the hemD gene of Escherichia coli encoding uroporphyrinogen III synthase and initial evidence for a hem operon.
Biochem J
249
613-6
1988
Escherichia coli
Araujo, LS; Lombardo, ME; Rossetti, MV; Batlle, AM
[Saccharomyces cerevisiae: porphobilinogenase activity in a wild-type strain and its heme-deficient mutant]
Rev Argent Microbiol
19
109-19
0
Saccharomyces cerevisiae
Tsai, SF; Bishop, DF; Desnick, RJ
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria.
Anal Biochem
166
120-33
1987
Homo sapiens, Porphyria
Stella, AM; Parera, VE; LlambÃas, EB; Batlle, AM
Pyrrylmethane intermediates in the synthesis of uroporphyrinogen 3 by soybean callus porphobilinogenase.
Biochim Biophys Acta
252
481-8
1971
Glycine max
Sancovich, HA; Battle, AM; Grinstein, M
Porphyrin biosynthesis. VI. Separation and purification of porphobilinogen deaminase and uroporphyrinogen isomerase from cow liver. Porphobilinogenase an allosteric enzyme.
Biochim Biophys Acta
191
130-43
1969
Bos taurus
Amillet, JM; Labbe-Bois, R
Isolation of the gene HEM4 encoding uroporphyrinogen III synthase in Saccharomyces cerevisiae.
Yeast
11
419-24
1995
Saccharomyces cerevisiae
Xu, W; Kozak, CA; Desnick, RJ
Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.
Genomics
26
556-62
1995
Escherichia coli, Homo sapiens, Mus musculus, Porphyria
Xu, W; Warner, CA; Desnick, RJ
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
J Clin Invest
95
905-12
1995
Porphyria, Homo sapiens, Escherichia coli
Bensidhoum, M; Ged, CM; Poirier, C; Guénet, JL; de Verneuil, H
The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7.
Mamm Genome
5
728-30
1994
Mus musculus
Xu, W; Astrin, KH; Desnick, RJ
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
Hum Mutat
7
187-92
1996
Homo sapiens, Porphyria
Fontanellas, A; Bensidhoum, M; Enriquez de Salamanca, R; Moruno Tirado, A; de Verneuil, H; Ged, C
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Eur J Hum Genet
4
274-82
1996
Porphyria, Escherichia coli, Homo sapiens
Freesemann, AG; Hofweber, K; Doss, MO
Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family.
Eur J Clin Chem Clin Biochem
35
35-9
1997
Porphyria, Indicator
Takamura, N; Hombrados, I; Tanigawa, K; Namba, H; Nagayama, Y; de Verneuil, H; Yamashita, S
Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
Am J Med Genet
70
299-302
1997
Porphyria, Escherichia coli
Mazurier, F; Moreau-Gaudry, F; Salesse, S; Barbot, C; Ged, C; Reiffers, J; de Verneuil, H
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria.
J Inherit Metab Dis
20
247-57
1997
Porphyria, Homo sapiens, Mus musculus, animal
Frank, J; Wang, X; Lam, HM; Aita, VM; Jugert, FK; Goerz, G; Merk, HF; Poh-Fitzpatrick, MB; Christiano, AM
C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Ann Hum Genet
62 ( Pt 3)
225-30
1998
Porphyria, Homo sapiens
Aizencang, GI; Bishop, DF; Forrest, D; Astrin, KH; Desnick, RJ
Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene.
J Biol Chem
275
2295-304
2000
Mus musculus, Porphyria
Aizencang, G; Solis, C; Bishop, DF; Warner, C; Desnick, RJ
Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.
Genomics
70
223-31
2000
Homo sapiens, Porphyria
Solis, C; Aizencang, GI; Astrin, KH; Bishop, DF; Desnick, RJ
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
J Clin Invest
107
753-62
2001
Porphyria, Homo sapiens
Shady, AA; Colby, BR; Cunha, LF; Astrin, KH; Bishop, DF; Desnick, RJ
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
Br J Haematol
117
980-7
2002
Porphyria, Homo sapiens, Escherichia coli
Géronimi, F; Richard, E; Lamrissi-Garcia, I; Lalanne, M; Ged, C; Redonnet-Vernhet, I; Moreau-Gaudry, F; de Verneuil, H
Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells.
J Mol Med
81
310-20
2003
Homo sapiens, Porphyria
Wiederholt, T; Poblete-Gutiérrez, P; Gardlo, K; Goerz, G; Bolsen, K; Merk, HF; Frank, J
Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
Physiol Res
55 Suppl 2
S85-92
2006
Homo sapiens, Porphyria
Clavero, S; Bishop, DF; Giger, U; Haskins, ME; Desnick, RJ
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Mol Med
16
381-8
0
Felis catus, Porphyria, Homo sapiens
Gucev, Z; Slavevska, N; Tasic, V; Laban, N; Pop-Jordanova, N; Danilovski, D; Woolf, J; Cole, D
Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met).
Indian J Hum Genet
17
104-7
2011
Porphyria
Thien Kim, DH; Kawazoe, A; Bang, PD; Thanh, NT; Taketani, S
Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient.
Case Rep Dermatol
5
105-10
2013
Porphyria, Escherichia coli
Guo, S; Wang, L; Li, X; Nie, G; Li, M; Han, B
Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria.
Blood Cells Mol Dis
2013
Porphyria
Glomglao, W; Treesucon, A; Roothumnong, E; Thongnoppakhun, W; Siraprapapat, P; Suwanthol, L; Sanpakit, K; Tanphaichitr, VS
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
Int J Lab Hematol
37
e44-7
2015
Homo sapiens, Porphyria
Fityan, A; Fassihi, H; Sarkany, R
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
Clin Exp Dermatol
41
953-954
2016
Porphyria
Blouin, JM; Bernardo-Seisdedos, G; Sasso, E; Esteve, J; Ged, C; Lalanne, M; Sanz-Parra, A; Urquiza, P; de Verneuil, H; Millet, O; Richard, E
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Hum Mol Genet
26
1565-1576
2017
Porphyria, Homo sapiens
Weiss, Y; Balwani, M; Chen, B; Yasuda, M; Nazarenko, I; Desnick, RJ
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Mol Genet Metab
2018
Porphyria
Parker, AC; Bergonia, HA; Seals, NL; Baccanale, CL; Rocha, ER
The uroS and yifB Genes Conserved among Tetrapyrrole Synthesizing-Deficient Bacteroidales Are Involved in Bacteroides fragilis Heme Assimilation and Survival in Experimental Intra-abdominal Infection and Intestinal Colonization.
Infect Immun
88
2020
Bacteroides fragilis, Bacteroidales, Bacteria
Blouin, JM; Ged, C; Bernardo-Seisdedos, G; Cabantous, T; Pinson, B; Poli, A; Puy, H; Millet, O; Gouya, L; Morice-Picard, F; Richard, E
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
Mol Genet Metab Rep
27
100722
2021
Porphyria, Homo sapiens
Bhusal, M; Bhattarai, S; Shah, M; Khadka, A
Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.
JAAD Case Rep
10
102-106
2021
Homo sapiens, Porphyria
Blouin, JM; Duchartre, Y; Costet, P; Lalanne, M; Ged, C; Lain, A; Millet, O; de Verneuil, H; Richard, E
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Proc Natl Acad Sci U S A
110
18238-43
2013
Porphyria, Homo sapiens, Mus sp.
Sassa, S; Bernstein, SE
Levels of delta-aminolevulinate dehydratase, uroporphyrinogen-I synthase, and protoporphyrin IX in erythrocytes from anemic mutant mice.
Proc Natl Acad Sci U S A
74
1181-4
1977
Mus sp.
Buzaleh, AM; del Camen Martinez, M; del Carmen Batlle, AM
Relevance of cytochrome P450 levels in the actions of enflurane and isoflurane in mice: studies on the haem pathway.
Clin Exp Pharmacol Physiol
27
796-800
2000
Metazoa
de Villiers, JN; Kotze, MJ; van Heerden, CJ; Sadie, A; Gardner, HF; Liebenberg, J; van Zyl, R; du Plessis, L; Kimberg, M; Frank, J; Warnich, L
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
Exp Dermatol
14
50-5
2005
Porphyria
To-Figueras, J; Ducamp, S; Clayton, J; Badenas, C; Delaby, C; Ged, C; Lyoumi, S; Gouya, L; de Verneuil, H; Beaumont, C; Ferreira, GC; Deybach, JC; Herrero, C; Puy, H
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
Blood
118
1443-51
2011
Homo sapiens, Porphyria
Sassa, S; Urabe, A
Uroporphyrinogen I synthase induction in normal human bone marrow cultures: an early and quantitative response of erythroid differentiation.
Proc Natl Acad Sci U S A
76
5321-5
1979
Homo sapiens
Lazebnik, N; Lazebnik, RS
The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha-fetoprotein.
Prenat Diagn
24
282-6
2004
Porphyria
Gorchein, A; Guo, R; Lim, CK; Raimundo, A; Pullon, HW; Bellingham, AJ
Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal.
Biomed Chromatogr
12
350-6
0
Porphyria
Buzaleh, AM; GarcÃa-Bravo, M; Navarro, S; Morán-Jimenez, MJ; Méndez, M; Batlle, A; Fontanellas, A; de Salamanca, RE
Volatile anaesthetics induce biochemical alterations in the heme pathway in a B-lymphocyte cell line established from hepatoerythropoietic porphyria patients (LBHEP) and in mice inoculated with LBHEP cells.
Int J Biochem Cell Biol
36
216-22
2004
Metazoa
Lee, MJ; Kim, HJ; Lee, JY; Kwon, AS; Jun, SY; Kang, SH; Kim, P
Effect of gene amplifications in porphyrin pathway on heme biosynthesis in a recombinant Escherichia coli.
J Microbiol Biotechnol
23
668-73
2013
Escherichia coli
Jiao, L; Wang, L; Qiu, Z; Wang, Q; Zhou, Q; Huang, X
Effects of bisphenol A on chlorophyll synthesis in soybean seedlings.
Environ Sci Pollut Res Int
2014
Glycine max, plant
Kim, SH; Kim, SW; Ryu, J; Kang, SY; Kang, BC; Kim, JB
Dark/Light Treatments Followed by ?-Irradiation Increase the Frequency of Leaf-Color Mutants in Cymbidium.
Plants (Basel)
9
2020
Cymbidium
Kazmi, SA; Bukhari, AI
A mutant of Escherichia coli which accumulates large amounts of coproporphyrin.
Biochim Biophys Acta
541
420-4
1978
Salmonella enterica subsp. enterica serovar Typhimurium
Chartrand, P; Tardif, D; Săsărman, A
Uroporphyrin- and coproporphyrin I-accumulating mutant of Escherichia coli K12.
J Gen Microbiol
110
61-6
1979
Escherichia coli K-12, Isla Vista hantavirus
Săsárman, A; Desrochers, M
Uroporphyrinogen III cosynthase-deficient mutant of Salmonella typhimurium LT2.
J Bacteriol
128
717-21
1976
Bacteria, Enterobacteriaceae, Homo sapiens, Porphyria
Christenson, WR; Bestervelt, LL; Piper, WN
Evidence for pteridine regulation of lead-mediated inhibition of uroporphyrinogen and heme formation in rat bone marrow.
Toxicol Appl Pharmacol
113
138-43
1992
Rattus
Hansson, M; Rutberg, L; Schröder, I; Hederstedt, L
The Bacillus subtilis hemAXCDBL gene cluster, which encodes enzymes of the biosynthetic pathway from glutamate to uroporphyrinogen III.
J Bacteriol
173
2590-9
1991
Bacillus subtilis, plasmids
Kauffman, L; Evans, DI; Stevens, RF; Weinkove, C
Bone-marrow transplantation for congenital erythropoietic porphyria.
Lancet
337
1510-1
1991
Porphyria
Salzman, TA; Batlle, AM; de Souza, W
Heme synthesis in Trypanosoma cruzi: influence of the strain and culture medium.
Comp Biochem Physiol B
83
57-61
1986
Trypanosoma cruzi
Salzman, TA; Batlle, AM; Angluster, J; de Souza, W
Heme synthesis in Crithidia deanei: influence of the endosymbiote.
Int J Biochem
17
1343-7
1985
Angomonas deanei
Claustres, M; Margueritte, G; Sultan, C
In vitro CFU-E and BFU-E responses to androgen in bone marrow from children with primary hypoproliferative anaemia: a possible therapeutic assay.
Eur J Pediatr
144
467-71
1986
Homo sapiens
Nunn, M; Weiher, H; Bullock, P; Duesberg, P
Avian erythroblastosis virus E26: nucleotide sequence of the tripartite onc gene and of the LTR, and analysis of the cellular prototype of the viral ets sequence.
Virology
139
330-9
1984
Rice stripe tenuivirus
McColl, KE; Moore, MR; Thompson, GG; Goldberg, A
Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.
J Med Genet
19
271-6
1982
Homo sapiens
de Verneuil, H; Moreau-Gaudry, F; Ged, C; Bensidhoum, M; Hombrados, I; Tricoire, J; Rolland, M
[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure]
Arch Pediatr
2
755-61
1995
Porphyria, Homo sapiens
Bensidhoum, M; Ged, C; Hombrados, I; Moreau-Gaudry, F; Hift, RS; Meissner, P; Sturrock, ED; de Verneuil, H
Identification of two new mutations in congenital erythropoietic porphyria.
Eur J Hum Genet
3
102-7
1995
Porphyria, insertion sequences, Escherichia coli, Homo sapiens
Tanigawa, K; Takamura, N; Yamashita, S
[Congenital erythropoietic porphyria]
Nippon Rinsho
53
1422-6
1995
Homo sapiens, Porphyria
Moreau-Gaudry, F; Ged, C; Barbot, C; Mazurier, F; Boiron, JM; Bensidhoum, M; Reiffers, J; de Verneuil, H
Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transfer.
Hum Gene Ther
6
13-20
1995
Homo sapiens, Mus musculus, Porphyria
Moreau-Gaudry, F; Mazurier, F; Bensidhoum, M; Ged, C; de Verneuil, H
Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B-cell lines.
Blood
85
1449-53
1995
Porphyria, Homo sapiens
Jones, MC; Jenkins, JM; Smith, AG; Howe, CJ
Cloning and characterisation of genes for tetrapyrrole biosynthesis from the cyanobacterium Anacystis nidulans R2.
Plant Mol Biol
24
435-48
1994
Synechococcus elongatus PCC 7942 = FACHB-805, Synechococcus sp., cyanobacterium, Bacteria, Escherichia coli, eukaryota, Saccharomyces cerevisiae, plasmids
Mohr, CD; Sonsteby, SK; Deretic, V
The Pseudomonas aeruginosa homologs of hemC and hemD are linked to the gene encoding the regulator of mucoidy AlgR.
Mol Gen Genet
242
177-84
1994
Pseudomonas aeruginosa, Escherichia coli, Homo sapiens
Huang, JL; Zaider, E; Roth, P; Garcia, O; Pollack, S; Poh-Fitzpatrick, MB
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
J Am Acad Dermatol
34
924-7
1996
Porphyria
Tanigawa, K; Bensidhoum, M; Takamura, N; Namba, H; Yamashita, S; de Verneuil, H; Ged, C
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
Hum Genet
97
557-60
1996
Porphyria, Escherichia coli
Ged, C; Moreau-Gaudry, F; Taine, L; Hombrados, I; Calvas, P; Colombies, P; De Verneuil, H
Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.
Prenat Diagn
16
83-6
1996
Porphyria, Homo sapiens
Fritsch, C; Bolsen, K; Ruzicka, T; Goerz, G
Congenital erythropoietic porphyria.
J Am Acad Dermatol
36
594-610
1997
Porphyria, Homo sapiens
Freesemann, AG; Bhutani, LK; Jacob, K; Doss, MO
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease).
Arch Dermatol Res
289
272-6
1997
Homo sapiens, Porphyria
Jinno, H; Hanioka, N; Onodera, S; Nishimura, T; Ando, M
Irgasan DP 300 (5-chloro-2-(2,4-dichlorophenoxy)-phenol) induces cytochrome P450s and inhibits haem biosynthesis in rat hepatocytes cultured on Matrigel.
Xenobiotica
27
681-92
1997
Rattus
Kafala, B; Sasarman, A
Isolation of the Staphylococcus aureus hemCDBL gene cluster coding for early steps in heme biosynthesis.
Gene
199
231-9
1997
Escherichia coli, Bacillus subtilis, Salmonella enterica subsp. enterica serovar Typhimurium, Staphylococcus aureus
Desnick, RJ; Glass, IA; Xu, W; Solis, C; Astrin, KH
Molecular genetics of congenital erythropoietic porphyria.
Semin Liver Dis
18
77-84
1998
Porphyria, Homo sapiens
Kauppinen, R; Glass, IA; Aizencang, G; Astrin, KH; Atweh, GF; Desnick, RJ
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.
Mol Genet Metab
65
10-7
1998
Porphyria, Homo sapiens
Freesemann, AG; Gross, U; Bensidhoum, M; de Verneuil, H; Doss, MO
Immunological, enzymatic and biochemical studies of uroporphyrinogen III-synthase deficiency in 20 patients with congenital erythropoietic porphyria.
Eur J Biochem
257
149-53
1998
Porphyria
Tezcan, I; Xu, W; Gurgey, A; Tuncer, M; Cetin, M; Oner, C; Yetgin, S; Ersoy, F; Aizencang, G; Astrin, KH; Desnick, RJ
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
Blood
92
4053-8
1998
Porphyria, Escherichia coli, Homo sapiens, Hydrops
Chiewchanvit, S; Mahanupab, P; Vanittanakom, P
Congenital erythropoietic porphyria: a case report.
J Med Assoc Thai
81
1023-7
1998
Porphyria
Lahaye, M
NMR spectroscopic characterisation of oligosaccharides from two Ulva rigida ulvan samples (Ulvales, Chlorophyta) degraded by a lyase.
Carbohydr Res
314
1-12
1998
Serinus canaria
Fritsch, C; Lang, K; Bolsen, K; Lehmann, P; Ruzicka, T
Congenital erythropoietic porphyria.
Skin Pharmacol Appl Skin Physiol
11
347-57
0
Porphyria
Herrera Saval, A; Moruno Tirado, A
Congenital erythropoietic porphyria affecting two brothers.
Br J Dermatol
141
547-50
1999
Porphyria
Fontanellas, A; Mazurier, F; Belloc, F; Taine, L; Dumain, P; Morel, C; Ged, C; de Verneuil, H; Moreau-Gaudry, F
Fluorescence-based selection of retrovirally transduced cells in congenital erythropoietic porphyria: direct selection based on the expression of the therapeutic gene.
J Gene Med
1
322-30
0
Porphyria
Shaw, PH; Mancini, AJ; McConnell, JP; Brown, D; Kletzel, M
Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature.
Bone Marrow Transplant
27
101-5
2001
Porphyria
Mazurier, F; Géronimi, F; Lamrissi-Garcia, I; Morel, C; Richard, E; Ged, C; Fontanellas, A; Moreau-Gaudry, F; Morey, M; de Verneuil, H
Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria.
Mol Ther
3
411-7
2001
Porphyria, Homo sapiens
Anderson, PJ; Entsch, B; McKay, DB
A gene, cobA + hemD, from Selenomonas ruminantium encodes a bifunctional enzyme involved in the synthesis of vitamin B12.
Gene
281
63-70
2001
Selenomonas ruminantium, Bacteria, Escherichia coli, Bos taurus, Metazoa
Aplin, C; Whatley, SD; Thompson, P; Hoy, T; Fisher, P; Singer, C; Lovell, CR; Elder, GH
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
J Invest Dermatol
117
1647-9
2001
Porphyria
Kontos, AP; Ozog, D; Bichakjian, C; Lim, HW
Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.
Br J Dermatol
148
160-4
2003
Porphyria
Guégan, R; Camadro, JM; Saint Girons, I; Picardeau, M
Leptospira spp. possess a complete haem biosynthetic pathway and are able to use exogenous haem sources.
Mol Microbiol
49
745-54
2003
Leptospira interrogans, Escherichia coli, Leptospira, Spirochaetales, Borreliella burgdorferi, Treponema pallidum, Leptospira biflexa
Ged, C; Mégarbané, H; Chouery, E; Lalanne, M; Mégarbané, A; de Verneuil, H
Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.
J Invest Dermatol
123
589-91
2004
Homo sapiens, Porphyria
Dupuis-Girod, S; Akkari, V; Ged, C; Galambrun, C; Kebaïli, K; Deybach, JC; Claudy, A; Geburher, L; Philippe, N; de Verneuil, H; Bertrand, Y
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
Eur J Pediatr
164
104-7
2005
Porphyria, Homo sapiens, Areas
Ged, C; Mendez, M; Robert, E; Lalanne, M; Lamrissi-Garcia, I; Costet, P; Daniel, JY; Dubus, P; Mazurier, F; Moreau-Gaudry, F; de Verneuil, H
A knock-in mouse model of congenital erythropoietic porphyria.
Genomics
87
84-92
2006
animal, Homo sapiens, Mus musculus, Mus sp., Porphyria
Berry, AA; Desnick, RJ; Astrin, KH; Shabbeer, J; Lucky, AW; Lim, HW
Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
Arch Dermatol
141
1575-9
2005
Porphyria, Homo sapiens, Areas
Phillips, JD; Steensma, DP; Pulsipher, MA; Spangrude, GJ; Kushner, JP
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
Blood
109
2618-21
2007
Homo sapiens, Porphyria
To-Figueras, J; Badenas, C; Mascaró, JM; Madrigal, I; Merino, A; Bastida, P; Lecha, M; Herrero, C
Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.
Blood Cells Mol Dis
38
242-6
0
Porphyria, Homo sapiens
Robert-Richard, E; Moreau-Gaudry, F; Lalanne, M; Lamrissi-Garcia, I; Cario-André, M; Guyonnet-Dupérat, V; Taine, L; Ged, C; de Verneuil, H
Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.
Am J Hum Genet
82
113-24
2008
Mus sp., Porphyria, Homo sapiens, Mus musculus
de Verneuil, H; Robert-Richard, E; Ged, C; Mazurier, F; Richard, E; Moreau-Gaudry, F
[Successful gene therapy of mice with congenital erythropoietic porphyria]
Med Sci (Paris)
24
615-20
0
Mus sp., Porphyria, Homo sapiens
Ged, C; Moreau-Gaudry, F; Richard, E; Robert-Richard, E; de Verneuil, H
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Cell Mol Biol (Noisy-le-grand)
55
53-60
2009
Porphyria
Huang, ML; Becker, EM; Whitnall, M; Rahmanto, YS; Ponka, P; Richardson, DR
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Proc Natl Acad Sci U S A
106
16381-6
2009
Mus musculus
Robert-Richard, E; Lalanne, M; Lamrissi-Garcia, I; Guyonnet-Duperat, V; Richard, E; Pitard, V; Mazurier, F; Moreau-Gaudry, F; Ged, C; de Verneuil, H
Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation.
J Gene Med
12
637-46
2010
Porphyria, Homo sapiens, Mus sp., Mus musculus
Lebreuilly-Sohyer, I; Morice, A; Acher, A; Dompmartin, A; Clement, C; de Verneuil, H; Ged, C; Leroy, D; Verneuil, L
[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].
Ann Dermatol Venereol
137
635-9
2010
Porphyria, Homo sapiens, Areas
Bishop, DF; Clavero, S; Mohandas, N; Desnick, RJ
Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes.
Mol Med
2011
Porphyria, Mus sp., Mus musculus, Homo sapiens
Shao, Z; Gao, J; Ding, X; Wang, J; Chiao, J; Zhao, G
Identification and functional analysis of a nitrate assimilation operon nasACKBDEF from Amycolatopsis mediterranei U32.
Arch Microbiol
2011
Electron
Agerholm, JS; Thulstrup, PW; Bjerrum, MJ; Bendixen, C; Jørgensen, CB; Fredholm, M
A molecular study of congenital erythropoietic porphyria in cattle.
Anim Genet
43
210-215
2012
Bos taurus, Porphyria
Bedel, A; Taillepierre, M; Guyonnet-Duperat, V; Lippert, E; Dubus, P; Dabernat, S; Mautuit, T; Cardinaud, B; Pain, C; Rousseau, B; Lalanne, M; Ged, C; Duchartre, Y; Richard, E; de Verneuil, H; Moreau-Gaudry, F
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.
Am J Hum Genet
91
109-21
2012
Porphyria
Katugampola, RP; Badminton, MN; Finlay, AY; Whatley, S; Woolf, J; Mason, N; Deybach, JC; Puy, H; Ged, C; de Verneuil, H; Hanneken, S; Minder, E; Schneider-Yin, X; Anstey, AV
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Br J Dermatol
2012
Porphyria, Homo sapiens
Piñeiro Pauwels, MB; Gerez, EN; Martinez, MC; Melito, VA; Parera, VE; Batlle, A; Rossetti, MV
An odd case of heteroallelic acute intermittent porphyria in the argentinean population.
Cell Mol Biol (Noisy-le-grand)
59 Suppl
OL1855-60
2013
Porphyria, Homo sapiens
Martinez Peinado, C; Díaz de Heredia, C; To-Figueras, J; Arias-Santiago, S; Nogueras, P; Elorza, I; Olivé, T; Bádenas, C; Moreno, MJ; Tercedor, J; Herrero, C
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.
Pediatr Dermatol
30
484-9
0
Porphyria, Homo sapiens
Hibino, A; Petri, R; Büchs, J; Ohtake, H
Production of uroporphyrinogen III, which is the common precursor of all tetrapyrrole cofactors, from 5-aminolevulinic acid by Escherichia coli expressing thermostable enzymes.
Appl Microbiol Biotechnol
97
7337-44
2013
Escherichia coli, Escherichia coli BL21(DE3), Thermus thermophilus, Thermus thermophilus HB8
Pandey, M; Mukherjee, SB; Patra, B; Kapoor, S; Ged, C; Aneja, S; Seth, A
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
J Pediatr Hematol Oncol
35
e167-70
2013
Porphyria
De, AK; Das, K; Sil, A; Joardar, S
A Case of Congenital Erythropoietic Porphyria without Hemolysis.
Indian J Dermatol
58
407
2013
Porphyria
Baran, M; Eliaç?k, K; Kurt, I; Kan?k, A; Zengin, N; Bakiler, AR
Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.
Turk J Pediatr
55
218-21
0
Porphyria
Verma, A; Rashidghamat, E; Martinez, A; Fassihi, H; Sarkany, R
Congenital erythropoietic porphyria: a case where symptoms have been precipitated by an unrelated anaemia.
Br J Dermatol
2014
Porphyria
Egan, DN; Yang, Z; Phillips, J; Abkowitz, JL
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
Blood
126
257-61
2015
Porphyria
Jacovas, VC; Rovaris, DL; Peréz, O; de Azevedo, S; Macedo, GS; Sandoval, JR; Salazar-Granara, A; Villena, M; Dugoujon, JM; Bisso-Machado, R; Petzl-Erler, ML; Salzano, FM; Ashton-Prolla, P; Ramallo, V; Bortolini, MC
Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes.
PLoS One
10
e0137823
2015
Quechua
Di Pierro, E; Brancaleoni, V; Granata, F
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Br J Haematol
2016
Porphyria
Singh, NK; Tyagi, A; Kaur, R; Verma, R; Gupta, PK
Characterization of codon usage pattern and influencing factors in Japanese encephalitis virus.
Virus Res
221
58-65
2016
Aroma
Arora, S; Harith, AK; Sodhi, N
Congenital Erythropoietic Porphyria with Undescended Testis.
Indian J Dermatol
61
467
0
Porphyria
Jiao, L; Ding, H; Wang, L; Zhou, Q; Huang, X
Bisphenol A effects on the chlorophyll contents in soybean at different growth stages.
Environ Pollut
223
426-434
2017
Glycine max
Manirafasha, E; Murwanashyaka, T; Ndikubwimana, T; Rashid Ahmed, N; Liu, J; Lu, Y; Zeng, X; Ling, X; Jing, K
Enhancement of cell growth and phycocyanin production in Arthrospira (Spirulina) platensis by metabolic stress and nitrate fed-batch.
Bioresour Technol
255
293-301
2018
Arthrospira platensis BY
Salomone B, C; Ogueta C, I; Reyes V, C; Durán S, G; Aguirre, N; Wietstruck, A
[Congenital erythropoietic porphyria: case report and management recommendations].
Arch Argent Pediatr
116
e300-e302
2018
Porphyria
Urquiza, P; Laín, A; Sanz-Parra, A; Moreno, J; Bernardo-Seisdedos, G; Dubus, P; González, E; Gutiérrez-de-Juan, V; García, S; Eraña, H; San Juan, I; Macías, I; Ben Bdira, F; Pluta, P; Ortega, G; Oyarzábal, J; González-Muñiz, R; Rodríguez-Cuesta, J; Anguita, J; Díez, E; Blouin, JM; de Verneuil, H; Mato, JM; Richard, E; Falcón-Pérez, JM; Castilla, J; Millet, O
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
Sci Transl Med
10
2018
Porphyria
Ciftci, V; K?lavuz, S; Bulut, FD; Mungan, HN; Bisgin, A; Dogan, MC
Congenital Erythropoietic Porphyria with Erythrodontia: A Case Report.
Int J Paediatr Dent
2019
Porphyria
Lefebvre, T; Millot, S; Richard, E; Blouin, JM; Lalanne, M; Lamrissi-Garcia, I; Costet, P; Lyoumi, S; Gouya, L; Puy, H; Moreau-Gaudry, F; de Verneuil, H; Karim, Z; Ged, C
Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).
Biochem Biophys Res Commun
520
297-303
2019
Mus musculus, Homo sapiens
Besnard, C; Schmitt, C; Galmiche-Rolland, L; Debray, D; Fabre, M; Molina, T; Gouya, L; Ged, C; Castelle, M; Cavazzana, M; Magrin, E; Neven, B; Moshous, D; Blanche, S; Frémond, ML
Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.
Biol Blood Marrow Transplant
2019
Porphyria
Giménez-Bastida, JA; Ávila-Gálvez, MÁ; Espín, JC; González-Sarrías, A
The gut microbiota metabolite urolithin A, but not other relevant urolithins, induces p53-dependent cellular senescence in human colon cancer cells.
Food Chem Toxicol
111260
2020
Homo sapiens
Arnaiz-Villena, A; Juarez, I; Lopez-Nares, A; Crespo-Yuste, E; Callado, A; Suarez-Trujillo, F
HLA study in Bolivian Quechua Amerindians from Titikaka Lake Area.
Hum Immunol
81
321-322
2020
Quechua
Blouin, JM; Ged, C; Lalanne, M; Lamrissi-Garcia, I; Morice-Picard, F; Costet, P; Daher, R; Moreau-Gaudry, F; Bedel, A; Puy, H; Gouya, L; Karim, Z; Richard, E
Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.
Blood
2020
Porphyria
Prat, F; Toutain, J; Boutin, J; Amintas, S; Cullot, G; Lalanne, M; Lamrissi-Garcia, I; Moranvillier, I; Richard, E; Blouin, JM; Dabernat, S; Moreau-Gaudry, F; Bedel, A
Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
Stem Cell Reports
15
677-693
2020
Porphyria
Bragazzi Cunha, J; Elenbaas, JS; Maitra, D; Kuo, N; Azuero-Dajud, R; Ferguson, AC; Griffin, MS; Lentz, SI; Shavit, JA; Omary, MB
Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.
Sci Rep
11
9601
2021
Porphyria
Bernardo-Seisdedos, G; Charco, JM; SanJuan, I; García-Martínez, S; Urquiza, P; Eraña, H; Castilla, J; Millet, O
Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria.
J Pers Med
11
2021
Porphyria
Shoolingin-Jordan, PM
Porphobilinogen deaminase and uroporphyrinogen III synthase: structure, molecular biology, and mechanism.
J Bioenerg Biomembr
27
181-95
1995
Escherichia coli, Homo sapiens, Porphyria, Transformation
Arnaiz-Villena, A; Gonzalez-Alcos, V; Serrano-Vela, JI; Reguera, R; Barbolla, L; Parga-Lozano, C; Gómez-Prieto, P; Abd-El-Fatah-Khalil, S; Moscoso, J
HLA genes in Uros from Titikaka Lake, Peru: origin and relationship with other Amerindians and worldwide populations.
Int J Immunogenet
36
159-67
2009
Homo sapiens
Shaik, AP; Alsaeed, AH; Sultana, A
Phylogenetic analysis of uroporphyrinogen III synthase (UROS) gene.
Bioinformation
8
1265-70
2012
Chordata, Phyla, Porphyria
Sandoval, JR; Lacerda, DR; Jota, MS; Salazar-Granara, A; Vieira, PP; Acosta, O; Cuellar, C; Revollo, S; Fujita, R; Santos, FR; ,
The genetic history of indigenous populations of the peruvian and bolivian altiplano: the legacy of the uros.
PLoS One
8
e73006
2013
Andes, Quechua
Arnaiz-Villena, A; Palacio-Grüber, J; Juarez, I; Lopez-Nares, A; Nieto, J; Campos, C; Martin-Villa, JM
HLA in Uros from Peru Titikaka Lake: Tiwanaku, Easter and Pacific Islanders.
Hum Immunol
80
91-92
2019
Homo sapiens
Jordan, PM
The biosynthesis of uroporphyrinogen III: mechanism of action of porphobilinogen deaminase.
Ciba Found Symp
180
70-89; discussion 89-96
1994
Escherichia coli
Afonso, SG; Chinarro, S; Muñoz, JJ; de Salamanca, RE; Batlle, AM
Photodynamic and non-photodynamic action of several porphyrins on the activity of some heme-enzymes.
J Enzyme Inhib
3
303-10
1990
Homo sapiens
Kondo, M
[Porphyrin-synthesizing enzymes in erythrocyte]
Nippon Rinsho
53
1371-6
1995
Porphyria
Méndez, M; Parera, V; EnrÃquez de Salamanca, R; Batlle, A
Amiodarone is a pharmacologically safe drug for porphyrias.
Gen Pharmacol
32
259-63
1999
Mus sp., Paraburkholderia caffeinilytica
Oskarsson, A; Fowler, BA
Alterations in renal heme biosynthesis during metal nephrotoxicity.
Ann N Y Acad Sci
514
268-77
1987
Rattus
Leeper, FJ
The evidence for a spirocyclic intermediate in the formation of uroporphyrinogen III by cosynthase.
Ciba Found Symp
180
111-23; discussion 124-30
1994
Transformation
Buzaleh, AM; Enriquez de Salamanca, R; Batlle, AM
Effect of multiple doses of volatile anesthetics on heme enzymes.
Gen Pharmacol
25
1179-83
1994
Metazoa
Goldsmith, JR
Dibromochloropropane: epidemiological findings and current questions.
Ann N Y Acad Sci
837
300-6
1997
Homo sapiens, Indicator
Saylors, RL; Stine, KC; Derrick, J
Hematopoietic cytokine-inducible gene expression from retroviral vectors.
Gene Ther
6
944-6
1999
insertion sequences, Homo sapiens
Seftel, A; Rosen, R; Kuritzky, L
Physician perceptions of sexual dysfunction related to benign prostatic hyperplasia (BPH) symptoms and sexual side effects related to BPH medications.
Int J Impot Res
19
386-92
0
Homo sapiens
LaRochelle, JC; Levine, LA
A Survey of primary-care physicians and urologists regarding Peyronie's disease.
J Sex Med
4
1167-73
2007
Homo sapiens
Seftel, AD; Rosen, RC; Rosenberg, MT; Sadovsky, R
Benign prostatic hyperplasia evaluation, treatment and association with sexual dysfunction: practice patterns according to physician specialty.
Int J Clin Pract
62
614-22
2008
Homo sapiens
Darwich, E; Herrero, C
New Developments in Erythropoietic Porphyrias.
Actas Dermosifiliogr
2012
Homo sapiens
Darwich, E; Herrero, C
New developments in erythropoietic porphyrias.
Actas Dermosifiliogr
104
212-9
2013
Homo sapiens
Sandoval, JR; Salazar-Granara, A; Acosta, O; Castillo-Herrera, W; Fujita, R; Pena, SDj; Santos, FR
Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors.
J Hum Genet
58
627-34
2013
Andes
Weston, C; Klobusicky, J; Weston, J; Connor, J; Toms, SA; Marko, NF
Aberrations in the Iron Regulatory Gene Signature Are Associated with Decreased Survival in Diffuse Infiltrating Gliomas.
PLoS One
11
e0166593
2016
Homo sapiens
Podlipnik, S; Guijarro, F; Combalia, A; To-Figueras, J; Badenas, C; Costa, D; Rozman, M; Jorge, S; Aguilera, P; Gaya, A
Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations. A case report.
Br J Dermatol
2017
Homo sapiens, Porphyria
Kim, SP; Gross, CP; Shah, ND; Tilburt, JC; Konety, B; Williams, SB; Weight, CJ; Yu, JB; Kumar, AMS; Meropol, NJ
Perceptions of Barriers Towards Active Surveillance for Low-Risk Prostate Cancer: Results From a National Survey of Radiation Oncologists and Urologists.
Ann Surg Oncol
26
660-668
2019
Homo sapiens
Cullot, G; Boutin, J; Toutain, J; Prat, F; Pennamen, P; Rooryck, C; Teichmann, M; Rousseau, E; Lamrissi-Garcia, I; Guyonnet-Duperat, V; Bibeyran, A; Lalanne, M; Prouzet-Mauléon, V; Turcq, B; Ged, C; Blouin, JM; Richard, E; Dabernat, S; Moreau-Gaudry, F; Bedel, A
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.
Nat Commun
10
1136
2019
Porphyria
Kim, SP; Shah, ND; Meropol, NJ; Tilburt, JC; Nguyen, PL; Yu, JB; Abouassaly, R; Kim, A; Gross, CP
Recommendations of Active Surveillance for Intermediate-risk Prostate Cancer: Results from a National Survey of Radiation Oncologists and Urologists.
Eur Urol Oncol
2
189-195
2019
Homo sapiens
Arnaiz-Villena, A; Juarez, I; Lopez-Nares, A; Crespo-Yuste, E; Callado, A; Suarez-Trujillo, F
HLA study in Amerindian Bolivia La Paz Aymaras.
Hum Immunol
81
265-266
2020
Quechua
html completed
