Casals N - Search Results

1

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: casals n. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. J Pediatr. 2002. PMID: 12072887

2

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: casals n. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731

3

Molecular genetics of HMG-CoA lyase deficiency.

Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, Ramos FJ, Hegardt FG, Gómez-Puertas P, Casals N. Pié J, et al. Among authors: casals n. Mol Genet Metab. 2007 Nov;92(3):198-209. doi: 10.1016/j.ymgme.2007.06.020. Epub 2007 Aug 9. Mol Genet Metab. 2007. PMID: 17692550 Review.

4

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: casals n. J Inherit Metab Dis. 2006 Feb;29(1):207-11. doi: 10.1007/s10545-006-0214-2. J Inherit Metab Dis. 2006. PMID: 16601895

5

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: casals n. 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

6

Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Pie J, Casals N, Puisac B, Hegardt FG. Pie J, et al. Among authors: casals n. J Physiol Biochem. 2003 Dec;59(4):311-21. doi: 10.1007/BF03179889. J Physiol Biochem. 2003. PMID: 15164951

7

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 FG, Casals N. Mir C, et al. Among authors: casals n. J Inherit Metab Dis. 2006 Feb;29(1):64-70. doi: 10.1007/s10545-006-0138-x. J Inherit Metab Dis. 2006. PMID: 16601870

8

Regulation of the expression of the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase gene. Its role in the control of ketogenesis.

Casals N, Roca N, Guerrero M, Gil-Gómez G, Ayté J, Ciudad CJ, Hegardt FG. Casals N, et al. Biochem J. 1992 Apr 1;283 ( Pt 1)(Pt 1):261-4. doi: 10.1042/bj2830261. Biochem J. 1992. PMID: 1348927 Free PMC article.

9

Regulation of mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase protein by starvation, fat feeding, and diabetes.

Serra D, Casals N, Asins G, Royo T, Ciudad CJ, Hegardt FG. Serra D, et al. Among authors: casals n. Arch Biochem Biophys. 1993 Nov 15;307(1):40-5. doi: 10.1006/abbi.1993.1557. Arch Biochem Biophys. 1993. PMID: 7902069

10

C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.

Carrasco P, Menao S, López-Viñas E, Santpere G, Clotet J, Sierra AY, Gratacós E, Puisac B, Gómez-Puertas P, Hegardt FG, Pie J, Casals N. Carrasco P, et al. Among authors: casals n. Mol Genet Metab. 2007 Jun;91(2):120-7. doi: 10.1016/j.ymgme.2007.03.007. Epub 2007 Apr 24. Mol Genet Metab. 2007. PMID: 17459752

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