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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I, Ramos FJ, Casals N, Gómez-Puertas P, Hegardt FG, Pié J. Puisac B, et al. Among authors: pie a, pie j. Mol Biol Rep. 2012 Apr;39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28. Mol Biol Rep. 2012. PMID: 21952825
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
Casale CH, Casals N, Pié J, Zapater N, Pérez-Cerdá C, Merinero B, Martínez-Pardo M, García-Peñas JJ, García-Gonzalez JM, Lama R, Poll-The BT, Smeitink JA, Wanders RJ, Ugarte M, Hegardt FG. Casale CH, et al. Among authors: pie j. Arch Biochem Biophys. 1998 Jan 1;349(1):129-37. doi: 10.1006/abbi.1997.0456. Arch Biochem Biophys. 1998. PMID: 9439591
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
Aledo R, Zschocke J, Pié J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG. Aledo R, et al. Among authors: pie j. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731
The diagnosis of mitochondrial HMG-CoA synthase deficiency.
Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pié J, Hoffmann GF, Hegardt FG, Mayatepek E. Zschocke J, et al. Among authors: pie j. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. J Pediatr. 2002. PMID: 12072887
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
Casals N, Gómez-Puertas P, Pié J, Mir C, Roca R, Puisac B, Aledo R, Clotet J, Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto JC, Chamoles NA, Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG. Casals N, et al. Among authors: pie j. J Biol Chem. 2003 Aug 1;278(31):29016-23. doi: 10.1074/jbc.M304276200. Epub 2003 May 13. J Biol Chem. 2003. PMID: 12746442 Free article.
110 results