Publications by authors named "Angeles Pie"

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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti

Hum Mutat· April 2015

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Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
Beatriz Puisac, María Esperanza Teresa-Rodrigo, María Arnedo, María Concepción Gil-Rodríguez, Celia Pérez-Cerdá

Mol Genet Metab· April 2013

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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Beatriz Puisac, Mónica Ramos, María Arnedo, Sebastián Menao, María Concepción Gil-Rodríguez

Mol Biol Rep· April 2012

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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Sebastián Menao, Eduardo López-Viñas, Cecilia Mir, Beatriz Puisac, Esther Gratacós

Hum Mutat· March 2009

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Molecular genetics of HMG-CoA lyase deficiency.
Juan Pié, Eduardo López-Viñas, Beatriz Puisac, Sebastián Menao, Angeles Pié

Mol Genet Metab· November 2007

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Is mortalin a candidate gene for T1DM ?
Jesper Johannesen, Angeles Pie, Allan Ertmann Karlsen, Zenia Marian Larsen, Allan Jensen

Autoimmunity· May 2005

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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.
Beatriz Puisac, Eduardo López-Viñas, Susana Moreno, Cecilia Mir, Celia Pérez-Cerdá

Biophys Chem· April 2005

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