Results 41 to 50 of about 164,160 (174)
Microbial Cell Factories, 2023 Background Heme is an iron/porphyrin complex compound, widely used in the health care, food, and pharmaceutical industries. It is more advantageous and attractive to develop microbial cell factories to produce heme by fermentation, with lower production ...
Shaomei Yang +9 more
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Acute intermittent porphyria: thein vitroexpression of mutant hydroxymethylbilane synthase
Molecular and Cellular Probes, 1997 Acute intermittent porphyria (AIP) is an inborn error of haem biosynthesis caused by a variety of mutations in the gene coding for hydroxymethylbilane synthase (HMB-S). The entire coding sequence of this gene, from each of three South African AIP patients, was therefore screened for mutations using chemical cleavage mismatch (CCM) analysis and any ...
Ong, PML +6 more
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Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene [PDF]
Genetics in Medicine, 2000 To identify mutations in families with acute intermittent porphyria, 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.Mutations were identified by direct solid phase sequencing.Two novel missense mutations E80G and T78P and ...
R B, Ramdall +7 more
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Characterization of the multiple forms of hydroxymethylbilane synthase from rat spleen [PDF]
Biochemical Journal, 1984 Phenylhydrazine treatment induced hydroxymethylbilane synthase activity (EC 4.3.1.8) in rat spleen, erythrocytes and liver by 40-fold, 7.5-fold and 6-fold respectively. Five multiple forms of the enzyme were resolved by DEAE-cellulose chromatography.
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Journal of Investigative Medicine High Impact Case Reports, 2022 Acute intermittent porphyria (AIP) is a rare autosomal dominant inherited disease, predominantly seen in female patients, caused by mutations in the hydroxymethylbilane synthase gene.
Andrew J. Ortega DO +7 more
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Identification of Suitable Reference Genes for Real Time Quantitative Polymerase Chain Reaction Assays on Pectoralis major Muscle in Chicken (Gallus gallus ). [PDF]
PLoS ONE, 2015 Thirteen reference genes were investigated to determine their stability to be used as a housekeeping in gene expression studies in skeletal muscle of chickens.
Carlos S Nascimento +9 more
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Many pitfalls in diagnosis of acute intermittent porphyria: a case report
BMC Research Notes, 2018 Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika +13 more
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Translational Psychiatry, 2023 Relapse is common in remitted patients with major depressive disorder (MDD). Arketamine, an (R)-enantiomer of ketamine, has persistent prophylactic actions in an inflammatory model of depression.
Li Ma +4 more
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Assembly of the eukaryotic PLP-synthase complex from plasmodium and activation of the Pdx1 enzyme [PDF]
, 2012 Biosynthesis of vitamins is fundamental to malaria parasites. Plasmodia synthesize the active form of vitamin B6 (pyridoxal 5-phosphate, PLP) using a PLP synthase complex.
Böttcher, Bettina +9 more
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A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion
The Turkish Journal of Pediatrics, 2020 Background. Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks. Case. Here we present a 17 -year- old adolescent refugee mother
Özlem Yüksel Aksoy +5 more
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