Refining the diagnosis of mitochondrial HMG‐CoA synthase deficiency
Aledo, R., Mir, C., Dalton, R. N., Turner, C., Pié, J., Hegardt, F. G., Casals, N., Champion, M. P.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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A single‐residue mutation, G203E, causes 3‐hydroxy‐3‐methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG‐CoA lyase
Mir, C., Lopez‐Viñas, E., Aledo, R., Puisac, B., Rizzo, C., Dionisi‐Vici, C., Deodato, F., Pié, J., Gomez‐Puertas, P., Hegardt, F. G., Casals, N.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Genetic basis of mitochondrial HMG-CoA synthase deficiency
Aledo, R, Zschocke, J, Pié, J, Mir, C, Fiesel, S, Mayatepek, E, Hoffmann, G F, Casals, N, Hegardt, F G
Published in Human genetics (01.07.2001)
Published in Human genetics (01.07.2001)
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Contribution of steroidogenic factor 1 to the regulation of cholesterol synthesis
Mascaró, C, Nadal, A, Hegardt, F G, Marrero, P F, Haro, D
Published in Biochemical journal (15.09.2000)
Published in Biochemical journal (15.09.2000)
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Molecular basis of 3-hydroxy-3-methylglutaric aciduria
Pie, J, Casals, N, Puisac, B, Hegardt, F G
Published in Journal of physiology and biochemistry (01.12.2003)
Published in Journal of physiology and biochemistry (01.12.2003)
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Mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A synthase and carnitine palmitoyltransferase II as potential control sites for ketogenesis during mitochondrion and peroxisome proliferation
Madsen, Lise, Garras, Alexis, Asins, Guillermina, Serra, Dolors, Hegardt, Fausto G, Berge, Rolf K
Published in Biochemical pharmacology (01.05.1999)
Published in Biochemical pharmacology (01.05.1999)
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Rat Mitochondrial and Cytosolic 3-Hydroxy-3-Methylglutaryl-CoA Synthases are Encoded by Two Different Genes
Ayte, Jose, Gil-Gomez, Gabriel, Haro, Diego, Marrero, Pedro F., Hegardt, Fausto G.
Published in Proceedings of the National Academy of Sciences - PNAS (01.05.1990)
Published in Proceedings of the National Academy of Sciences - PNAS (01.05.1990)
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Testis and ovary express the gene for the ketogenic mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
ROYO, T, PEDRAGOSA, M. J, AYTE, J, GIL-GOMEZ, G, VILARO, S, HEGARDT, F. G
Published in Journal of lipid research (01.06.1993)
Published in Journal of lipid research (01.06.1993)
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Control of Human Muscle-type Carnitine Palmitoyltransferase I Gene Transcription by Peroxisome Proliferator-activated Receptor
Mascaró, Cristina, Acosta, Elena, Ortiz, José A., Marrero, Pedro F., Hegardt, Fausto G., Haro, Diego
Published in The Journal of biological chemistry (10.04.1998)
Published in The Journal of biological chemistry (10.04.1998)
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Post-transcriptional regulation of rat carnitine octanoyltransferase
Hegardt, F G, Bach, M, Asins, G, Caudevilla, C, Morillas, M, Codony, C, Serra, D
Published in Biochemical Society transactions (01.05.2001)
Published in Biochemical Society transactions (01.05.2001)
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Gene expression of enzymes regulating ketogenesis and fatty acid metabolism in regenerating rat liver
ASINS, G, ROSA, J. L, SERRA, D, GIL-GOMEZ, G, AYTE, J, BARTRONS, R, TAULER, A, HEGARDT, F. G
Published in Biochemical journal (01.04.1994)
Published in Biochemical journal (01.04.1994)
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