Results 151 to 160 of about 164,160 (174)
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Computational modeling of the catalytic mechanism of hydroxymethylbilane synthase
Physical Chemistry Chemical Physics, 2019Hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthesis pathway, catalyzes the formation of 1-hydroxymethylbilane (HMB) by a stepwise polymerization of four molecules of porphobilinogen (PBG) using the dipyrromethane (DPM) cofactor.
Navneet Bung +3 more
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Human Mutation, 2000 Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway.
Maria Domenica Cappellini +2 more
exaly +3 more sources
13C-N.M.R. Studies on the pyrromethane cofactor of hydroxymethylbilane synthase
Tetrahedron Letters, 1988By growing Escherichiacoli in the presence of 5-amino [5-13C] laevulinic acid, the enzyme hydroxymethylbilane synthase is produced carrying 13C-labels in its pyrromethane cofactor. It is then proved by 13C-n.m.r. spectroscopy that the cofactor is bound to the protein via the sulphur atom of a cysteine residue.
Uwe Beifuss +3 more
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19-Bromo-1-hydroxymethylbilane a novel inhibitor of Uro'gen III synthase
Bioorganic & Medicinal Chemistry, 1994A novel hydroxymethylbilane analog, 19-Br-HMB (11), has been synthesized. Its activity with the enzyme Uro'gen III synthase shows competitive inhibition.
C, Pichon +4 more
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Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1988
Etude d'une famille chinoise avec analyse de l'activite enzymatique de l'uroporphyrinogen I synthase erythrocytaire et du porphobilinogen ...
F Y, Lee +5 more
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Etude d'une famille chinoise avec analyse de l'activite enzymatique de l'uroporphyrinogen I synthase erythrocytaire et du porphobilinogen ...
F Y, Lee +5 more
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Clinical Biochemistry, 1999
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). As far as the gene abnormalities of the HMBS, many different mutations have been reported. In this work, we investigated the presence of mutations in a Japanese family with AIP.A 44-year-old Japanese male ...
Eiji Nanba, Yutaka Horie, Masao Kondo
exaly +3 more sources
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). As far as the gene abnormalities of the HMBS, many different mutations have been reported. In this work, we investigated the presence of mutations in a Japanese family with AIP.A 44-year-old Japanese male ...
Eiji Nanba, Yutaka Horie, Masao Kondo
exaly +3 more sources
Annals of Human Genetics, 2015
SummaryAcute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS). In the present study, we sought to establish a correlation between HMBS activity with the presence of mutations and polymorphisms.
Maria Aparecida Nagai +1 more
exaly +3 more sources
SummaryAcute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS). In the present study, we sought to establish a correlation between HMBS activity with the presence of mutations and polymorphisms.
Maria Aparecida Nagai +1 more
exaly +3 more sources
Human Mutation, 1994
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with life-threatening acute attacks precipitated by various factors including drugs, alcohol,
Robert J. Desnick
exaly +3 more sources
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with life-threatening acute attacks precipitated by various factors including drugs, alcohol,
Robert J. Desnick
exaly +3 more sources
Analytical Biochemistry, 2009
Acute intermittent porphyria (AIP) represents the most frequent type of acute porphyria. The underlying cause is a defect in the hydroxymethylbilane synthase (HMBS) gene. Diagnosis of AIP is crucial for preventing life-threatening, acute attacks among both symptomatic and asymptomatic carriers.
Pavel Martásek
exaly +3 more sources
Acute intermittent porphyria (AIP) represents the most frequent type of acute porphyria. The underlying cause is a defect in the hydroxymethylbilane synthase (HMBS) gene. Diagnosis of AIP is crucial for preventing life-threatening, acute attacks among both symptomatic and asymptomatic carriers.
Pavel Martásek
exaly +3 more sources
Comparative inhibition of hepatic hydroxymethylbilane synthase by both hard and soft metal cations
Canadian Journal of Biochemistry and Cell Biology, 1984The in vitro inhibition of hydroxymethylbilane synthase (EC 4.3.1.8, uroporphyrinogen I synthetase) obtained from livers of Sprague–Dawley rats has been studied with a wide range of di- and tri-valent metal ions. After purification by cell lysis, heat treatment, and centrifugation, the stable, soluble enzyme yielded sigmoidal inhibition curves with ...
D J, Farmer, B R, Hollebone
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