Global ETD Search

1	Atypical methylmalonic aciduria : frequency of mutations in the methylmalonyl-CoA epimerase (MCEE) gene Gradinger, Abigail. January 2007 (has links) Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin. Two patients who excrete methylmalonic acid have been shown to have a homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE). To further understand the causes of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients who excreted methylmalonic acid for which no cause was known. Mutations were detected in five patients. Fusion of fibroblast lines from two patients with a homozygous nonsense mutation in MCEE did not result in correction of [14C]propionate incorporation toward control values while the defect in these fibroblasts was complemented by mut, cblA, and cblB fibroblasts. Transfection with wild-type MCEE cDNA resulted in correction of the biochemical phenotype in cells from both patients. These experiments support the hypothesis that a defective epimerase enzyme can be a cause of elevated methylmalonic acid excretion. Methylmalonic Acid -- metabolism. Methylmalonyl-CoA Mutase -- deficiency. Racemases and Epimerases.
2	Atypical methylmalonic aciduria : frequency of mutations in the methylmalonyl-CoA epimerase (MCEE) gene Gradinger, Abigail. January 2007 (has links) No description available. Racemases and Epimerases. Methylmalonyl-CoA Mutase -- deficiency. Methylmalonic Acid -- metabolism.
3	Vergleichende Genomanalyse bei Mensch und Schwein am Beispiel ausgewählter syntenischer Regionen des humanen Chromosoms 6 / Comparative genome analysis of defined syntenic regions of human and porcine chromosoms Duscher, Sonja 03 May 2001 (has links) No description available. 570 Biowissenschaften Biologie Economic Sciences Triadin Methylmalony-CoA-Mutase SSC 1 Polymorphismus triadin methylmalonyl-CoA mutase SSC 1 polymorphism 42.13
4	Konstruktion eines bakteriellen Systems zum Export von Coenzym B<sub>12</sub> / Construction of a bacterial export system for coenzyme B<SUB>12</sub> Toeche-Mittler, Caroline 31 October 2002 (has links) No description available. 570 Biowissenschaften, Biologie Mathematics and Computer Science Coenzym B<SUB>12</sub> bakterielles Exportsystem Tat-Transportweg TorA Intrinsic Faktor Methylmalonyl-CoA-Mutase coenzyme B<SUB>12</sub> bacterial export system Tat pathway TorA intrinsic factor methylmalonyl-CoA mutase 42.3 WUE200

1

Page generated in 0.0439 seconds