Reference on EC 2.5.1.61 - hydroxymethylbilane synthase and Organism(s) Homo sapiens
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
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
Miyagi, K.; Kaneshima, M.; Kawakami, J.; Nakada, F.; Petryka, Z.J.; Watson, C.J.
Uroporphyrinogen I synthetase from human erythrocytes: Separation, purification, and properties of isoenzymes
Proc. Natl. Acad. Sci. USA
76
6172-6176
1979
Bos taurus, Homo sapiens, Cereibacter sphaeroides, Spinacia oleracea
Anderson, P.M.; Desnick, R.J.
Purification and properties of uroporphyrinogen I synthase from human erythrocytes
J. Biol. Chem.
255
1993-1999
1980
Homo sapiens
Brown, R.C.; Elder, G.H.; Urquhart, A.J.
Purification of hydroxymethylbilane synthase from human erythrocytes
Biochem. Soc. Trans.
13
1227-1228
1985
Homo sapiens
-
Mazzetti, M.B.; Tomio, J.M.
Purification and some properties of rat liver uroporphyrinogen I synthase
Anal. Asoc. Quim. Argent.
76
207-215
1988
Chlorella regularis, Escherichia coli, Homo sapiens, Rattus norvegicus, Spinacia oleracea
-
Smythe, E.; Williams, D.C.
A simple rapid purification scheme for hydroxymethylbilane synthase from human erythrocytes
Biochem. J.
251
237-241
1988
Homo sapiens
Lannfelt, L.; Wetterberg, L.; Lilius, L.; Thunell, S.; Joernvall, H.; Pavlu, B.; Wielburski, A.; Gellerfors, P.
Porphobilinogen deaminase in human erythrocytes
Scand. J. Clin. Lab. Invest.
49
677-684
1989
Homo sapiens
Sharif, A.; Smith, A.G.; Abell, C.
Isolation and characterisation of cDNA clone for chlorophyll synthesis enzyme from Euglena gracilis
Eur. J. Biochem.
184
353-359
1989
Escherichia coli, Euglena gracilis, Homo sapiens, Rattus norvegicus
Corrigall, A.V.; Meissner, P.N.; Kirsch, R.E.
Purification of human erythrocyte porphobilinogen deaminase
S. Afr. Med. J.
80
294-269
1991
Homo sapiens
Meissner, P.; Adams, P.; Kirsch, R.
Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen
J. Clin. Invest.
91
1436-1444
1993
Homo sapiens
Juknat, A.A.; Doernemann, D.; Senger, H.
Purification and kinetic studies on a porphobilinogen deaminase from the unicellular green alga Scenedesmus obliquus
Planta
193
123-130
1994
Saccharomyces cerevisiae, Chlorella regularis, Escherichia coli, Euglena gracilis, Homo sapiens, Pisum sativum, Rattus norvegicus, Cereibacter sphaeroides, Tetradesmus obliquus, Spinacia oleracea
-
Shoolingin-Jordan, P.M.; Al-Dbass, A.; McNeill, L.A.; Sarwar, M.; Butler, D.
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation
Biochem. Soc. Trans.
31
731-735
2003
Homo sapiens
Schneider-Yin, X.; Hergersberg, M.; Schuurmans, M.M.; Gregor, A.; Minder, E.I.
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs
J. Inherit. Metab. Dis.
27
625-631
2004
Homo sapiens
Gruenberg-Etkovitz, N.; Greenbaum, L.; Grinblat, B.; Malik, Z.
Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria
Biochim. Biophys. Acta
1762
819-827
2006
Homo sapiens
Sardh, E.; Rejkjaer, L.; Andersson, D.E.; Harper, P.
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion
Clin. Pharmacokinet.
46
335-349
2007
Homo sapiens
Poblete-Gutierrez, P.; Wiederholt, T.; Martinez-Mir, A.; Merk, H.F.; Connor, J.M.; Christiano, A.M.; Frank, J.
Demystification of Chester porphyria: a nonsense mutation in the porphobilinogen deaminase gene
Physiol. Res.
55 Suppl 2
S137-S144
2006
Homo sapiens (P08397)
Ulbrichova, D.; Flachsova, E.; Hrdinka, M.; Saligova, J.; Bazar, J.; Raman, C.S.; Martasek, P.
De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study
Physiol. Res.
55 Suppl 2
S145-S154
2006
Homo sapiens
Brons-Poulsen, J.; Christiansen, L.; Petersen, N.E.; Horder, M.; Kristiansen, K.
Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase
Scand. J. Clin. Lab. Invest.
65
93-105
2005
Homo sapiens
Wang, Y.; Scott, C.R.; Gelb, M.H.; Turecek, F.
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase
Anal. Chem.
80
2606-2611
2008
Homo sapiens (P08397), Homo sapiens
Yang, C.C.; Kuo, H.C.; You, H.L.; Wang, J.; Huang, C.C.; Liu, C.Y.; Lan, M.Y.; Stephenson, D.A.; Lee, M.J.
HMBS mutations in Chinese patients with acute intermittent porphyria
Ann. Hum. Genet.
72
683-686
2008
Homo sapiens
Schneider-Yin, X.; Ulbrichova, D.; Mamet, R.; Martasek, P.; Marohnic, C.C.; Goren, A.; Minder, E.I.; Schoenfeld, N.
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
Mol. Genet. Metab.
94
343-346
2008
Homo sapiens
Ulbrichova-Douderova, D.; Martasek, P.
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis
Anal. Biochem.
395
41-48
2009
Homo sapiens (P08397)
Gill, R.; Kolstoe, S.E.; Mohammed, F.; Al D-Bass, A.; Mosely, J.E.; Sarwar, M.; Cooper, J.B.; Wood, S.P.; Shoolingin-Jordan, P.M.
Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria
Biochem. J.
420
17-25
2009
Homo sapiens (P08397), Homo sapiens
Ulbrichova, D.; Hrdinka, M.; Saudek, V.; Martasek, P.
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
FEBS J.
276
2106-2115
2009
Homo sapiens (P08397), Homo sapiens
Unzu, C.; Sampedro, A.; Mauleon, I.; Vanrell, L.; Dubrot, J.; de Salamanca, R.E.; Gonzalez-Aseguinolaza, G.; Melero, I.; Prieto, J.; Fontanellas, A.
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria
J. Hepatol.
52
417-424
2010
Homo sapiens (P08397), Homo sapiens, Mus musculus (P22907), Mus musculus
Bustad, H.; Vorland, M.; Roenneseth, E.; Sandberg, S.; Martinez, A.; Toska, K.
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria
Biosci. Rep.
33
617-626
2013
Homo sapiens (P08397)
Chakrabarty, B.; Das, D.; Bung, N.; Roy, A.; Bulusu, G.
Network analysis of hydroxymethylbilane synthase dynamics
J. Mol. Graph. Model.
99
107641
2020
Homo sapiens (P08397), Homo sapiens
Bung, N.; Roy, A.; Priyakumar, U.D.; Bulusu, G.
Computational modeling of the catalytic mechanism of hydroxymethylbilane synthase
Phys. Chem. Chem. Phys.
21
7932-7940
2019
Homo sapiens (P08397), Homo sapiens
Bung, N.; Roy, A.; Chen, B.; Das, D.; Pradhan, M.; Yasuda, M.; New, M.I.; Desnick, R.J.; Bulusu, G.
Human hydroxymethylbilane synthase Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP
Proc. Natl. Acad. Sci. USA
115
E4071-E4080
2018
Homo sapiens (P08397), Homo sapiens
