Casals N - Search Results

1

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

2

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.

3

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

4

Blattella germanica has two HMG-CoA synthase genes. Both are regulated in the ovary during the gonadotrophic cycle.

Buesa C, Martínez-Gonzalez J, Casals N, Haro D, Piulachs MD, Bellés X, Hegardt FG. Buesa C, et al. Among authors: casals n. J Biol Chem. 1994 Apr 22;269(16):11707-13. J Biol Chem. 1994. PMID: 7909314 Free article.

5

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency.

Buesa C, Pié J, Barceló A, Casals N, Mascaró C, Casale CH, Haro D, Duran M, Smeitink JA, Hegardt FG. Buesa C, et al. Among authors: casals n. J Lipid Res. 1996 Nov;37(11):2420-32. J Lipid Res. 1996. PMID: 8978493 Free article.

6

Coordinated expression and activity of 3-hydroxy-3-methylglutaryl coenzyme A synthase and reductase in the fat body of Blattella germanica (L.) during vitellogenesis.

Casals N, Buesa C, Piulachs MD, Cabañó J, Marrero PF, Bellés X, Hegardt FG. Casals N, et al. Insect Biochem Mol Biol. 1996 Sep-Oct;26(8-9):837-43. doi: 10.1016/s0965-1748(96)00044-6. Insect Biochem Mol Biol. 1996. PMID: 9014330

7

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: casals n. Biochem J. 1997 Apr 15;323 ( Pt 2)(Pt 2):329-35. doi: 10.1042/bj3230329. Biochem J. 1997. PMID: 9163320 Free PMC article.

8

A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria.

Casals N, Pié J, Casale CH, Zapater N, Ribes A, Castro-Gago M, Rodriguez-Segade S, Wanders RJ, Hegardt FG. Casals N, et al. J Lipid Res. 1997 Nov;38(11):2303-13. J Lipid Res. 1997. PMID: 9392428 Free article.

9

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: casals n. Arch Biochem Biophys. 1998 Jan 1;349(1):129-37. doi: 10.1006/abbi.1997.0456. Arch Biochem Biophys. 1998. PMID: 9439591

10

Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.

Zapater N, Pié J, Lloberas J, Rolland MO, Leroux B, Vidailhet M, Divry P, Hegardt FG, Casals N. Zapater N, et al. Among authors: casals n. Arch Biochem Biophys. 1998 Oct 15;358(2):197-203. doi: 10.1006/abbi.1998.0788. Arch Biochem Biophys. 1998. PMID: 9784232

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