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Browsing by Author Pié, Juan

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Showing results 1 to 7 of 7
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2013Analysis 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 deficiencyPuisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Arnedo, María; Gil-Rodríguez, María Concepción; Pérez-Cerdá, Celia; Ribes, Antonia; Pié, Ángeles; Bueno, Gloria; Gómez-Puertas, Paulino  ; Pié, JuanArtículo
closedAccessaccesoRestringido.pdf.jpg2012Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosolArnedo, María; Gómez-Puertas, Paulino  ; Pié, JuanArtículo
closedAccessaccesoRestringido.pdf.jpg2012Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathwayPuisac, Beatriz; Wesseling, J.; Gómez-Puertas, Paulino  ; Pié, JuanArtículo
openAccessGómez-PuertasP_HumanMitochondrialHMG.pdf.jpg28-Mar-2018Human mitochondrial HMG-CoA synthase deficiency: Role of enzyme dimerization surface and characterization of three new patientsPuisac, Beatriz; Marcos-Alcalde, Íñigo ; Gómez-Puertas, Paulino ; Pié, JuanArtículo
openAccessGómez-PuertasP_mRNAQuantificationOfNIPBL.pdf.jpg23-Feb-2017mRNA quantification of NIPBL isoforms A and B in adult and fetal human tissues, and a potentially pathological variant affecting only isoform a in two patients with Cornelia de Lange syndromePuisac, Beatriz; Gómez-Puertas, Paulino  ; Pié, JuanArtículo
openAccessijms-18-00481.pdf.jpg23-Feb-2017mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange SyndromePuisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Hernández-Marcos, María; Baquero-Montoya, Carolina; Gil-Rodríguez, María Concepción; Visnes, Torkild; Bot, Christopher; Gómez-Puertas, Paulino  ; Kaiser, Frank J.; Ramos, Feliciano J.; Ström, Lena; Pié, JuanArtículo
closedAccessaccesoRestringido.pdf.jpg2013New case of mitochondrial HMG-CoA synthase deficiency: Functional analysis of eight mutationsRamos, Mónica; Menao, Sebastián; Arnedo, María; Puisac, Beatriz; Gil-Rodríguez, María Concepción; Hernández-Marcos, María; Pierre, Germaine; Ramaswami, Uma; Baquero-Montoya, Carolina; Bueno, Gloria; Casale, César; Hegardt, Fausto G.; Gómez-Puertas, Paulino  ; Pié, JuanArtículo