Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 375-377

  Das, A M ^a   Ullrich, K ^a   Isbrandt, D ^a  

^a UNIVERSITY OF HAMBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; CREATINE; CREATINE PHOSPHATE; GUANIDINOACETIC ACID; METHYLTRANSFERASE; MITOCHONDRIAL ENZYME; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; HUMAN CELL; RESPIRATORY CHAIN;

ADENOSINE TRIPHOSPHATASES; CARRIER PROTEINS; CELLS, CULTURED; CREATINE; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX II; ELECTRON TRANSPORT COMPLEX III; FIBROBLASTS; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; MEMBRANE PROTEINS; METHYLTRANSFERASES; MULTIENZYME COMPLEXES; OXIDOREDUCTASES; PHOSPHOCREATINE; SUCCINATE DEHYDROGENASE; UP-REGULATION;

EID: 0034041199     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005643617251     Document Type: Conference Paper

References (9)

1. Das AM, Kohlschütter A (1999) Anomalies of mitochondrial ATP synthase regulation in four different types of neuronal ceroid lipofuscinosis. Mol Gen Metab 66: 349-355.
2. Freyssenet D, Berthon P, Geyssant A, Denis C (1994) ATP synthesis kinetic properties of mitochondria isolated from the rat extensor digitorum longus muscle depleted of creatine with β-guanidinopropionic acid. Biochim Biophys Acta 1186: 232-236.
3. Harris DA, Slater EC (1975) Tightly bound nucleotides of the energy transducing ATPase of chloroplasts and their role in photophosphorylation. Biochim Biophys Acta 387: 335-348.
4. Hohn-Hansen O, Karl DM (1978) Biomass and adenylate energy charge determination in microbial cell extracts and environmental samples. Methods Enzymol 57: 73-85.
5. Lippe G, Sorgato MC, Harris DA (1988). The binding of the inhibitor protein is governed independently by ATP and membrane potential in ox-heart submitochondrial particles. Biochim Biophys Acta 933: 12-21.
6. Lundin A (1978) Determination of creatine kinase isoenzymes in human serum by an immunological method using firefly luciferase. Methods Enzymol 57: 56-65.
7. O'Gorman E, Beutner G, Wallimann T, Brdiczka D (1996) Differential effects of creatine depletion on the regulation of enzyme activities and on creatine-stimulated mitochondrial respiration in skeletal muscle, heart, and brain. Biochim Biophys Acta 1276: 161-170.
8. Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K (1996) Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 58: 659-665.
9. Yamada EW, Huzel NJ (1988) The calcium-binding ATPase inhibitor protein from bovine heart mitochondria: purification and properties. J Biol Chem 263: 11498-11503.