Search Results - "Chloupková, Maja"
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MDL1 is a High Copy Suppressor of ATM1: Evidence for a Role in Resistance to Oxidative Stress
Published in Journal of molecular biology (01-08-2003)“…The yeast ATM1 gene is essential for normal cellular iron homeostasis. Deletion of ATM1 results in mitochondrial iron accumulation and increased sensitivity to…”
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Abnormal iron uptake and liver cancer
Published in Cancer biology & therapy (15-09-2009)“…Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide. Iron overload represents a significant risk factor in the development of HCC…”
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HFE Modulates Transferrin Receptor 2 Levels in Hepatoma Cells via Interactions That Differ from Transferrin Receptor 1-HFE Interactions
Published in The Journal of biological chemistry (21-12-2007)“…Mutations in the transmembrane glycoproteins transferrin receptor 2 (TfR2) and HFE are associated with hereditary hemochromatosis. Interactions between HFE and…”
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Expression of 25 Human ABC Transporters in the Yeast Pichia pastoris and Characterization of the Purified ABCC3 ATPase Activity
Published in Biochemistry (Easton) (10-07-2007)“…Human ATP-binding cassette (ABC) transporters comprise a family of 48 membrane-spanning transport proteins, many of which are associated with genetic diseases…”
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Stoichiometries of transferrin receptors 1 and 2 in human liver
Published in Blood cells, molecules, & diseases (15-01-2010)“…Mutations in either the hereditary hemochromatosis protein, HFE, or transferrin receptor 2, TfR2, result in a similarly severe form of the most common type of…”
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The mechanism by which the TfR2/HFE complex affects iron homeostasis
Published in The FASEB journal (01-04-2013)“…Abstract only Iron homeostasis is tightly controlled. Since there is no regulated way of excreting excess iron, levels are finely tuned through dietary uptake…”
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Purification and ATP Hydrolysis of the Putative Cholesterol Transporters ABCG5 and ABCG8
Published in Biochemistry (Easton) (15-08-2006)“…Mutations in the ATP-binding cassette (ABC) transporters ABCG5 and ABCG8 lead to sitosterolemia, a disorder characterized by sterol accumulation and premature…”
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The mitochondrial ABC transporter Atm1p functions as a homodimer
Published in FEBS letters (02-07-2004)“…The ATP-binding cassette (ABC) transporters constitute one of the largest families of proteins in evolution. The ATM1 gene of the yeast Saccharomyces…”
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Changes in the Carboxyl Terminus of the β Subunit of Human Propionyl-CoA Carboxylase Affect the Oligomer Assembly and Catalysis: Expression and Characterization of Seven Patient-Derived Mutant Forms of PCC in Escherichia coli
Published in Molecular genetics and metabolism (01-12-2000)“…Propionyl-CoA carboxylase (PCC) catalyzes the biotin-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA in the mitochondrial matrix. Human PCC is…”
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Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed inEscherichia coli
Published in Human mutation (01-06-2002)Get full text
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Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli
Published in Human mutation (01-06-2002)“…Deficiency of propionyl‐CoA carboxylase (PCC) results in propionic acidemia, an autosomal recessive disorder characterized by ketoacidosis sufficiently severe…”
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High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase
Published in American journal of human genetics (01-07-2000)“…Propionyl CoA carboxylase (PCC) is a mitochondrial, biotin-dependent enzyme involved in the catabolism of amino acids, odd-chain fatty acids, and other…”
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