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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: hegardt fg. 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: hegardt fg. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731
Molecular basis of 3-hydroxy-3-methylglutaric aciduria.
Pie J, Casals N, Puisac B, Hegardt FG. Pie J, et al. Among authors: hegardt fg. J Physiol Biochem. 2003 Dec;59(4):311-21. doi: 10.1007/BF03179889. J Physiol Biochem. 2003. PMID: 15164951
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.
Aledo R, Mir C, Dalton RN, Turner C, Pié J, Hegardt FG, Casals N, Champion MP. Aledo R, et al. Among authors: hegardt fg. J Inherit Metab Dis. 2006 Feb;29(1):207-11. doi: 10.1007/s10545-006-0214-2. J Inherit Metab Dis. 2006. PMID: 16601895
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Pié J, Casals N, Casale CH, Buesa C, Mascaró C, Barceló A, Rolland MO, Zabot T, Haro D, Eyskens F, Divry P, Hegardt FG. Pié J, et al. Among authors: hegardt fg. Biochem J. 1997 Apr 15;323 ( Pt 2)(Pt 2):329-35. doi: 10.1042/bj3230329. Biochem J. 1997. PMID: 9163320 Free PMC article.
144 results