Publications by authors named "Cecilia Mir"

4Publications

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

Authors:
Sebastián Menao Eduardo López-Viñas Cecilia Mir Beatriz Puisac Esther Gratacós María Arnedo Patricia Carrasco Susana Moreno Mónica Ramos María Concepción Gil Angeles Pié Antonia Ribes Celia Pérez-Cerda Magdalena Ugarte Peter T Clayton Stanley H Korman Dolors Serra Guillermina Asins Feliciano J Ramos Paulino Gómez-Puertas Fausto G Hegardt Nuria Casals Juan Pié

Hum Mutat 2009 Mar;30(3):E520-9

Laboratory of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, Medical School, University of Zaragoza, Zaragoza, Spain.

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March 2009

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.

Authors:
Beatriz Puisac Eduardo López-Viñas Susana Moreno Cecilia Mir Celia Pérez-Cerdá Sebastián Menao Dolores Lluch Angeles Pié Paulino Gómez-Puertas Nuria Casals Magdalena Ugarte Faustog Hegardt Juan Pié

Biophys Chem 2005 Apr 6;115(2-3):241-5. Epub 2005 Jan 6.

Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, E-50009 Zaragoza, Spain.

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April 2005

Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.

Authors:
Núria Casals Paulino Gómez-Puertas Juan Pié Cecilia Mir Ramón Roca Beatriz Puisac Rosa Aledo Josep Clotet Sebastián Menao Dolors Serra Guillermina Asins Jacqueline Till Alun C Elias-Jones Juan C Cresto Nestor A Chamoles Jose E Abdenur Ertan Mayatepek Guy Besley Alfonso Valencia Fausto G Hegardt

J Biol Chem 2003 Aug 13;278(31):29016-23. Epub 2003 May 13.

Unit of Biochemistry and Molecular Biology, International University of Catalonia, Spain.

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August 2003

CDP-choline prevents glutamate-mediated cell death in cerebellar granule neurons.

Authors:
Cecilia Mir Josep Clotet Rosa Aledo Núria Durany Josep Argemí Rafael Lozano Jordi Cervós-Navarro Núria Casals

J Mol Neurosci 2003 Feb;20(1):53-60

Unit of Molecular and Cellular Biology, Faculty of Health Sciences, International University of Catalonia, Barcelona, Spain.

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February 2003