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Functional studies of rat hydroxymethylbilane synthase
Bioorganic Chemistry, 2008The structurally related tetrapyrrolic pigments are a group of natural products that participate in many of the fundamental biosynthetic and catabolic processes of living organisms. Hydroxymethylbilane synthase catalyzes a rate-limiting step for the biosyntheses of tetrapyrrolic natural products.
Nan Li, Xiusheng Chu
exaly +3 more sources
Interaction of 5-hydroxymethyl-furfural with hydroxymethylbilane synthase
Phytochemistry, 1997Abstract The inhibition of chlorophyll biosynthesis in greening cress seedlings (Lepidium sativum L.) by 5-hydroxymethylfurfural (5-HMF), a natural compound isolated from the bulbs of Gladiolus spp. was investigated in vitro and in vivo. A direct reaction between 5-HMF and the chlorophyll precursor porphobilinogen was observed at pH 1.0 but not at pH
Wolfhart Rüdiger, Ulrike Oster
exaly +2 more sources
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
openaire +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 Desnick, R 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 Desnick, R J Desnick
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.
Ana Denise Gomes, Gonzaga +7 more
openaire +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 Martasek
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 Martasek
exaly +3 more sources
Clinical Genetics, 2021
A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP), a severe neurovisceral, autosomal dominant disorder with low penetrance. Even though in‐depth investigations of the HMBS
Yuanxiang Hu +9 more
semanticscholar +1 more source
A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP), a severe neurovisceral, autosomal dominant disorder with low penetrance. Even though in‐depth investigations of the HMBS
Yuanxiang Hu +9 more
semanticscholar +1 more source
Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase
Faraday Discuss., 2003The enzyme hydroxymethylbilane synthase (HMBS, EC 4.3.1.8), 313 amino acid residues and MW 34 kDa, also known as porphobilinogen deaminase (PBGD), catalyses the stepwise polymerization of four molecules of porphobilinogen (PBG) to the linear tetrapyrrole 1-hydroxymethylbilane. Several crystallographic structures of HMBS have been previously determined,
John R, Helliwell +7 more
openaire +2 more sources
Blood Cells, Molecules, and Diseases, 2001
Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. So far, more than 170 different mutations responsible for AIP have been identified worldwide in the HMBS gene.
F. Martinez di Montemuros +7 more
openaire +4 more sources
Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. So far, more than 170 different mutations responsible for AIP have been identified worldwide in the HMBS gene.
F. Martinez di Montemuros +7 more
openaire +4 more sources