Pié J - Search Results

1

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J. Baquero-Montoya C, et al. Among authors: pie j. Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27. Eur J Med Genet. 2014. PMID: 24874887

2

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: pie j. J Lipid Res. 1996 Nov;37(11):2420-32. J Lipid Res. 1996. PMID: 8978493 Free article.

3

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

4

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. Among authors: pie j. J Lipid Res. 1997 Nov;38(11):2303-13. J Lipid Res. 1997. PMID: 9392428 Free article.

5

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.

6

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

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

7

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.

Puisac B, López-Viñas E, Moreno S, Mir C, Pérez-Cerdá C, Menao S, Lluch D, Pié A, Gómez-Puertas P, Casals N, Ugarte M, Hegardt F, Pié J. Puisac B, et al. Among authors: pie a, pie j. Biophys Chem. 2005 Apr 1;115(2-3):241-5. doi: 10.1016/j.bpc.2004.12.031. Epub 2005 Jan 6. Biophys Chem. 2005. PMID: 15752612

8

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: pie j. J Inherit Metab Dis. 2006 Feb;29(1):64-70. doi: 10.1007/s10545-006-0138-x. J Inherit Metab Dis. 2006. PMID: 16601870

9

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Among authors: pie j. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.

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: pie j. 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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