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Items: 1 to 20 of 259

1.

ALAD porphyria is a conformational disease.

Jaffe EK, Stith L.

Am J Hum Genet. 2007 Feb;80(2):329-37. Epub 2006 Dec 21.

2.

Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria.

Maruno M, Furuyama K, Akagi R, Horie Y, Meguro K, Garbaczewski L, Chiorazzi N, Doss MO, Hassoun A, Mercelis R, Verstraeten L, Harper P, Floderus Y, Thunell S, Sassa S.

Blood. 2001 May 15;97(10):2972-8.

3.

The Remarkable Character of Porphobilinogen Synthase.

Jaffe EK.

Acc Chem Res. 2016 Nov 15;49(11):2509-2517. Epub 2016 Oct 26.

4.
5.

Single amino acid mutations alter the distribution of human porphobilinogen synthase quaternary structure isoforms (morpheeins).

Tang L, Breinig S, Stith L, Mischel A, Tannir J, Kokona B, Fairman R, Jaffe EK.

J Biol Chem. 2006 Mar 10;281(10):6682-90. Epub 2005 Dec 23.

6.

Allosteric inhibition of human porphobilinogen synthase.

Lawrence SH, Ramirez UD, Selwood T, Stith L, Jaffe EK.

J Biol Chem. 2009 Dec 18;284(51):35807-17. doi: 10.1074/jbc.M109.026294.

7.

Kinetics and thermodynamics of the interchange of the morpheein forms of human porphobilinogen synthase.

Selwood T, Tang L, Lawrence SH, Anokhina Y, Jaffe EK.

Biochemistry. 2008 Mar 11;47(10):3245-57. doi: 10.1021/bi702113z. Epub 2008 Feb 14.

PMID:
18271513
8.

Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.

Akagi R, Nishitani C, Harigae H, Horie Y, Garbaczewski L, Hassoun A, Mercelis R, Verstraeten L, Sassa S.

Blood. 2000 Nov 15;96(10):3618-23.

9.

An artificial gene for human porphobilinogen synthase allows comparison of an allelic variation implicated in susceptibility to lead poisoning.

Jaffe EK, Volin M, Bronson-Mullins CR, Dunbrack RL Jr, Kervinen J, Martins J, Quinlan JF Jr, Sazinsky MH, Steinhouse EM, Yeung AT.

J Biol Chem. 2000 Jan 28;275(4):2619-26.

10.

delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.

Akagi R, Kato N, Inoue R, Anderson KE, Jaffe EK, Sassa S.

Mol Genet Metab. 2006 Apr;87(4):329-36. Epub 2005 Dec 15.

PMID:
16343966
11.

ALAD porphyria.

Sassa S.

Semin Liver Dis. 1998;18(1):95-101. Review.

PMID:
9516683
12.

Mechanistic implications of mutations to the active site lysine of porphobilinogen synthase.

Mitchell LW, Volin M, Martins J, Jaffe EK.

J Biol Chem. 2001 Jan 12;276(2):1538-44.

13.

Control of tetrapyrrole biosynthesis by alternate quaternary forms of porphobilinogen synthase.

Breinig S, Kervinen J, Stith L, Wasson AS, Fairman R, Wlodawer A, Zdanov A, Jaffe EK.

Nat Struct Biol. 2003 Sep;10(9):757-63. Epub 2003 Aug 3.

PMID:
12897770
14.

Rhodobacter capsulatus porphobilinogen synthase, a high activity metal ion independent hexamer.

Bollivar DW, Clauson C, Lighthall R, Forbes S, Kokona B, Fairman R, Kundrat L, Jaffe EK.

BMC Biochem. 2004 Nov 22;5:17.

15.

Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.

Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S.

Hepatology. 2000 Mar;31(3):704-8.

PMID:
10706561
16.

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.

Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A, Sassa S.

J Clin Invest. 1992 May;89(5):1431-7.

17.
18.

Probing the oligomeric assemblies of pea porphobilinogen synthase by analytical ultracentrifugation.

Kokona B, Rigotti DJ, Wasson AS, Lawrence SH, Jaffe EK, Fairman R.

Biochemistry. 2008 Oct 7;47(40):10649-56. doi: 10.1021/bi801128d. Epub 2008 Sep 17.

19.

Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria.

Ishida N, Fujita H, Noguchi T, Doss M, Kappas A, Sassa S.

Biochem Biophys Res Commun. 1990 Oct 15;172(1):237-42.

PMID:
2222472
20.

[delta-Aminolevulinate dehydratase deficiency].

Fujita H, Ishida N, Akagi R.

Nihon Rinsho. 1995 Jun;53(6):1408-17. Review. Japanese.

PMID:
7616655

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