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Network analysis of hydroxymethylbilane synthase dynamics
Journal of Molecular Graphics and Modelling, 2020Hydroxymethylbilane synthase (HMBS) is one of the key enzymes of the heme biosynthetic pathway that catalyzes porphobilinogen to form the linear tetrapyrrole 1-hydroxymethylbilane through four intermediate steps. Mutations in the human HMBS (hHMBS) can lead to acute intermittent porphyria (AIP), a lethal metabolic disorder.
Broto Chakrabarty +2 more
exaly +3 more sources
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, Ding Li
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
exaly +2 more sources
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 ...
Etsuko Ueta +2 more
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 ...
Etsuko Ueta +2 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
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.
T L S Nogueira, Maria Aparecida Nagai
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.
T L S Nogueira, Maria Aparecida Nagai
exaly +3 more sources
Journal of Hepatology, 2015
Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepatocellular carcinoma (HCC).
Xiaoye Schneider-Yin +2 more
exaly +3 more sources
Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepatocellular carcinoma (HCC).
Xiaoye Schneider-Yin +2 more
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 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