Methylmalonyl-CoA mutase
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency
... Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caused by the ...
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Investigation of a novel intein based Escherichia coli expression system for human methylmalonyl CoA mutase : a thesis presented to Massey University in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry
... The success of the intein-mediated cleavage in protein expressed from pTYBl l.Trx and the solubility of the N-terminal Trx fusion were not able to be determined due to difficulties with [r] ...
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Inherited Methylmalonyl CoA Mutase Apoenzyme Deficiency in Human Fibroblasts: EVIDENCE FOR ALLELIC HETEROGENEITY, GENETIC COMPOUNDS, AND CODOMINANT EXPRESSION
... characterized methylmalonyl coenzyme A (CoA) mutase activity in extracts of cultured human fibroblasts from 23 patients with inherited deficiency of the mutase apoenzyme and from eight ...
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The refolding of recombinant human liver methylmalonyl CoA mutase from inclusion bodies produced in Escherichia coli : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University
... hMCM inclusion bodies were purified, solubilised and then several different in vitro refolding techniques were tested in attempts to produce active recombinant hMCM from purified solubil[r] ...
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The refolding of recombinant human liver methylmalonyl CoA mutase from inclusion bodies produced in Escherichia coli : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University
... hMCM inclusion bodies were purified, solubilised and then several different in vitro refolding techniques were tested in attempts to produce active recombinant hMCM from purified solubil[r] ...
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Investigation of a novel intein based Escherichia coli expression system for human methylmalonyl CoA mutase : a thesis presented to Massey University in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry
... Based on the results of previous expression systems, four novel expression vectors were developed utilising the maltose binding protein and thioredoxin as solubility tags.. lt was hoped [r] ...
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Differential diagnosis of mut and cbl methylmalonic aciduria by DNA mediated gene transfer in primary fibroblasts
... A mutase apoenzyme (mut) or genes required for the provision of cofactor B12 ...a methylmalonyl CoA mutase cDNA ...functional methylmalonyl CoA mutase cDNA clone into mut ...
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Molecular Analysis of The MUT Gene of an Egyptian Patient with Methylmalonic Acidemia: Case Report
... of methylmalonyl-CoA mutase apoenzyme defect in 40 european patients affected by mutº and mut¯ forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT ...
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Cofactor Selectivity in Methylmalonyl Coenzyme A Mutase, a Model Cobamide Dependent Enzyme
... ganisms in all domains of life. Cobamides are structurally diverse, and microbial growth and metabolism vary based on cobamide structure. Understanding cobam- ide preference in microorganisms is important given that ...
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Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut methylmalonic aciduria
... Distinct genotypic and phenotypic forms of methylmalonyl CoA mutase (MCM) apoenzyme deficiency can be delineated by biochemical analysis of mutant fibroblasts. One form, designated mut-, expresses a ...
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Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia
... Methylmalonyl-CoA mutase (MCM; EC 5.4.99.2) deficiency is the most common cause of methylmalonic acidemia (MMA; Online Mendelian Inheritance in Man 251000). After an initial symptom-free period ...
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Awakening sleeping beauty: production of propionic acid in Escherichia coli through the sbm operon requires the activity of a methylmalonyl-CoA epimerase
... beauty mutase, sbm ...cycle: methylmalonyl-CoA mutase (ScpA), biotin-independent methylmalonyl-CoA carboxy- lase (ScpB), and propionyl-CoA:succinate CoA transferase (ScpC) ...
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Succinyl CoA: 3 Ketoacid CoA Transferase Deficiency A CAUSE FOR KETOACIDOSIS IN INFANCY
... 3-ketoacid CoA-transferase (CoA-transferase) activity could be detected in homogenates of the post mortem brain, muscle and kidney tissue, or in the cultured skin ...of CoA-transferase activity was ...
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Molecular analysis of Coagulase (coa) gene polymorphism in clinical isolates of Staphylococcus aureus by PCR-RFLP
... Abstract: Coagulase enzyme is one of the virulence factors of Staphylococcus aureus . This study is based on the molecular analysis of the coagulase encoding gene. The polymorphism of the coa gene existing in ...
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Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients
... ABBREVIATIONS. LCHAD, long-chain 3-hydroxylacyl-CoA de- hydrogenase; MTP, mitochondrial trifunctional protein; MCAD, medium-chain acyl-CoA dehydrogenase; VLCAD, very long- chain acyl-CoA ...
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Specific glutaryl CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients
... (methylenecyclopropyl)acetyl-CoA at low concentrations. Sonicates from all five GA fibroblast lines examined showed 2-9% of control glutaryl-CoA dehydrogenating activity, corresponding to the deficient ...
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Early down-regulation of chorismate mutase 2 gene expression in a sugarcane cultivar tolerant to Xanthomonas albilineans infection
... Chorismate mutase 2 is a cytosolic enzyme, and the reason for its presence in plants is still unknown (Westfall et al., 2014); however, repression of the CM2 gene has been associated with plant defense mechanisms ...
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Cell Division Defects of Schizosaccharomyces pombe liz1− Mutants Are Caused by Defects in Pantothenate Uptake
... the biosynthesis of a specific class of lipids. In S. cerevisiae, fatty acid biosynthesis has a 17-fold higher affinity for malonyl-CoA than does fatty acid elongation (9). Thus, a shortage of malo- nyl-CoA ...
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Optimizing Azadi Controller with COA
... All of them prove the idea that the best option for tuning parameters of Azadi controller is the COA. Without no cast of doubt, combination of these both recent and robust method leads to one unique and ...
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Eukaryotic UDP-Galactopyranose Mutase (GLF Gene) in Microbial and Metazoal Pathogens
... We found a number of genes with strong homology to GLF s encoding eukaryotic UGMs in species not known to synthesize Gal f (Fig. These predicted proteins also showed conservation of key [r] ...
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