Heme synthase (ferrochelatase) activity, as determined by the chelation of ferrous iron to protoporphyrin or deuteroporphyrin, is reduced to 10-25% of normal in tissues of patients with protoporphyria. With cultured skin fibroblasts from seven patients with protoporphyria and six normal individuals, the present studies examined the enzymatic defect.
Joseph R. Bloomer
Title and authors | Publication | Year |
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The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18
JD Cody |
Trends in genetics : TIG | 2020 |
Porphyria
DL Longo, DM Bissell, KE Anderson, HL Bonkovsky |
New England Journal of Medicine | 2017 |
New mutation identified in two sisters with adult-onset erythropoietic protoporphyria
J Azad, P Brennan, AJ Carmichael |
Clinical and Experimental Dermatology | 2013 |
The Effects of Inhibition of Haem Biosynthesis by Griseofulvin on Intestinal Iron Absorption
AH Laftah, KB Raja, N Beaumont, RJ Simpson, A Deacon, N Solanky, SK Srai, TJ Peters |
Pharmacology and Toxicology | 2004 |
Erythrocytes—the ‘house elves’ of photodynamic therapy
L Kaestner, A Juzeniene, J Moan |
Photochemical & Photobiological Sciences | 2004 |
Erythropoietic protoporphyria
M Lecha |
Photodermatology, Photoimmunology and Photomedicine | 2003 |
The porphyrias
S Sassa |
Photodermatology, Photoimmunology & Photomedicine | 2002 |
Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria
JR Bloomer, MB Poh-Fitzpatrick |
Transactions of the American Clinical and Climatological Association | 2000 |
HEPATIC PORPHYRIAS
YV Scarlett, DA Brenner, JR Bloomer |
Clinics in Liver Disease | 1998 |
A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene
A Tugores, ST Magness, DA Brenner |
The Journal of biological chemistry | 1994 |
Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18
S TAKETANI, J INAZAWA, Y NAKAHASHI, T ABE, R TOKUNAGA |
European Journal of Biochemistry | 1992 |
Molecular regulation—Biological role of heme in hematopoiesis
NG Abraham |
Blood Reviews | 1991 |
High-performance liquid chromatographic assays for protoporphyrinogen oxidase and ferrochelatase in human leucocytes
R Guo, CK Lim, TJ Peters |
Journal of Chromatography B: Biomedical Sciences and Applications | 1991 |
Genetic Heterogeneity in Erythropoietic Protoporphyria: A Study of the Enzymatic Defect in Nine Affected Families
PG Norris, AV Nunn, JL Hawk, TM Cox |
Journal of Investigative Dermatology | 1990 |
Different characteristics of ferrochelatase in cultured fibroblasts of erythropoietic protoporphyria patients and normal controls
C Blom, EC Klasen, JV Steveninck |
Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology | 1990 |
Metal inhibition of ferrochelatase activity in human lymphocytes
E Rossi, PV Attwood, P Garcia-Webb, KA Costin |
Clinica Chimica Acta | 1990 |
Ferrochelatase Activity in Human Lymphocytes: Effect of Storage on Haem Formation
JA Tovey, G H |
Annals of Clinical Biochemistry | 1990 |
Molecular cloning, sequencing, and expression of mouse ferrochelatase
S Taketani, Y Nakahashi, T Osumi, R Tokunaga |
The Journal of biological chemistry | 1990 |
Erythropoietic protoporphyria in a child
M Piotte, A Hassoun, A Bourlond, G Cornu |
European Journal of Pediatrics | 1989 |
The liver in protoporphyria
JR Bloomer |
Hepatology | 1988 |
The synthesis of murine ferrochelatase in vitro and in vivo
SR Karr, HA Dailey |
Biochemical Journal | 1988 |
The effect of griseofulvin on the heme pathway. Studies on tissue explant cultures
E Vasquez, S Afonso, AM Buzaleh, N Navone, C Polo, E Schoua, A Batlle |
Toxicology | 1987 |
Disorders of Porphyrin Metabolism
MR Moore, KE McColl, C Rimington, A Goldberg |
1987 | |
The enzyme defect in bovine protoporphyria. Studies with purified ferrochelatase
JR Bloomer, HD Hill, KO Morton, LA Anderson-Burnham, JG Straka |
The Journal of biological chemistry | 1987 |
Genetic aspects of erythropoietic protoporphyria
LN Went, EC Klasen |
Annals of Human Genetics | 1984 |
The Porphyrias
SW Eubanks, JW Patterson, DL May, JL Aeling |
International Journal of Dermatology | 1983 |
Photosensitivity in Children
CA Ramsay |
Pediatric Clinics of North America | 1983 |
Bovine ferrochelatase. Kinetic analysis of inhibition by N-methylprotoporphyrin, manganese, and heme
HA Dailey, JE Fleming |
The Journal of biological chemistry | 1983 |
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria
S Sassa, GL Zalar, MB Poh-Fitzpatrick, KE Anderson, A Kappas |
Journal of Clinical Investigation | 1982 |
Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity
JR Bloomer, KO Morton, RJ Reuter, GR Ruth |
The American Journal of Human Genetics | 1982 |
Purification and characterization of membrane-bound ferrochelatase from Rhodopseudomonas sphaeroides
HA Dailey |
The Journal of biological chemistry | 1982 |
Enzyme Defects in the Porphyrias and their Relevance to the Biochemical Abnormalities in these Disorders
JR Bloomer |
Journal of Investigative Dermatology | 1981 |
Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect
S Sassa, S Schwartz, G Ruth |
Journal of Experimental Medicine | 1981 |
Advances in Human Genetics 11
H Harris, K Hirschhorn |
1981 |