Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe.
Explore the source record for details and available documents.
Amino Acid Metabolism, Inborn Errors↗
SEARCH · PubMed Health
Results for “MUTASES”
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A precise localization of a mouse gene encoding increased phosphoglycerate mutase activity (Pgam1e1) on chromosome 19.
Explore the source record for details and available documents.
Animals↗
A second locus encoding elevated phosphoglycerate mutase activity (Pgam2e) maps to mouse chromosome 4.
Explore the source record for details and available documents.
Animals↗
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.
Adult↗
Preparative synthesis of prephenate from chorismate by chorismate mutase immobilized on decylamine agarose.
Explore the source record for details and available documents.
Chorismate Mutase↗
A new test for chorismate mutase activity.
Explore the source record for details and available documents.
Chorismate Mutase↗
Regulation of aromatic amino acid biosynthesis in higher plants. Properties of an aromatic amino acid-insensitive chorismate mutase (CM-2) from mung bean.
Explore the source record for details and available documents.
Amino Acids↗
Interactions of methylmalonyl CoA mutase from normal human fibroblasts with adenosylcobalamin and methylmalonyl CoA: evidence for non-equivalent active sites.
Explore the source record for details and available documents.
Acyl Coenzyme A↗
Purification and properties of methylmalonyl coenzyme A mutase from human liver.
Explore the source record for details and available documents.
Chromatography↗
Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin.
Explore the source record for details and available documents.
Apoenzymes↗
Phosphoglycerate mutase in developing forespores of Bacillus megaterium may be regulated by the intrasporal level of free manganous ion.
Explore the source record for details and available documents.
Bacillus megaterium↗
Human erythrocyte phosphoglycerate mutase: evidence for normal catalysis in the absence of added 2,3-bisphospho-D-glycerate.
Explore the source record for details and available documents.
Catalysis↗
Chorismate mutase-catalyzed reaction of (+/-)-chorismic acid.
Explore the source record for details and available documents.
Chorismate Mutase↗
Crystalline phosphoglyceric acid mutase.
Explore the source record for details and available documents.
Intramolecular Transferases↗
A radio-HPLC assay for the measurement of methylmalonyl-CoA mutase.
Explore the source record for details and available documents.
Amino Acid Metabolism, Inborn Errors↗
Methylmalonyl-CoA mutase in a methanol-utilizing bacterium. Protaminobacter ruber.
Explore the source record for details and available documents.
Gram-Negative Aerobic Bacteria↗
Amino acid sequence of an active site fragment from human diphosphoglycerate mutase.
Explore the source record for details and available documents.
Amino Acid Sequence↗
Amino acid sequences of active-site histidine peptides from rabbit muscle phosphoglycerate mutase.
Explore the source record for details and available documents.
Amino Acid Sequence↗