Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"methylmalonic aciduria"”.
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Investigating cofactor transfer for a B₁₂-dependent enzyme
… proteins, a G-protein metallochaperone called methylmalonic aciduria type A protein (MMAA) and a protein called adenosyltransferase (ATR), to load and off-load cofactor. Mutations or deletions of the gene for MCM, or in any of the genes corresponding to accessory proteins which interfere with …
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Structural investigations of adenosylcobalamin-dependent enzyme maturation
… involved in its maturation lead to methylmalonic aciduria, an inborn error of metabolism. The final step of MCM’s maturation involves an adenosyltransferase (ATR), which catalyzes the adenylation reaction to form AdoCbl and then delivers AdoCbl to MCM, and a G-protein chaperone, …
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Metabolism in vivo of 1, 3-butanediol in the rat
… from either of the BD-labeled test compounds. Methylmalonic aciduria and urinary loss of ingested activity was higher in vitamin B12-deficient rats fed PRP-l-cl4 than in those fed l abe l ed BD. Nearly all of the urinary activity of vitamin B 1 2-deficient rats fed PRP-l-cl4 was in the form of …
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Mutationsanalyse bei 21 mut°-Patienten mit Methylmalonylazidurie (MMA)
Bei der Methylmalonylazidurie (MMA) handelt es sich um eine autosomal-rezessiv vererbte Stoffwechselerkrankung, hervorgerufen durch einen Defekt der Methylmalonyl-CoA Mutase (MCM). In dieser Arbeit wurden 21 Patienten mit der mut°-Form auf Mutationen im MCM-Gen untersucht. Es wurden elf neue und …