Search Results - "Desviat, Lourdes Ruiz"

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man by Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz

“…The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last…”
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Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy by Álvarez, Mar, Ruiz-Sala, Pedro, Pérez, Belén, Desviat, Lourdes Ruiz, Richard, Eva

“…Propionic acidemia (PA) disorder shows major involvement of the heart, among other alterations. A significant number of PA patients develop cardiac…”
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Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia by Alonso-Barroso, Esmeralda, Pérez, Belén, Desviat, Lourdes Ruiz, Richard, Eva

“…Propionic acidemia (PA), one of the most frequent life-threatening organic acidemias, is caused by mutations in either the or genes encoding both subunits of…”
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Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia by Spangsberg Petersen, Ulrika Simone, Dembic, Maja, Martínez-Pizarro, Ainhoa, Richard, Eva, Holm, Lise Lolle, Havelund, Jesper Foged, Doktor, Thomas Koed, Larsen, Martin Røssel, Færgeman, Nils J., Desviat, Lourdes Ruiz, Andresen, Brage Storstein

“…Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic sequence variation. Activation increases pseudoexon inclusion in mRNA…”
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Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option by Pérez, Belén, Gutiérrez‐Solana, Luis González, Verdú, Alfonso, Merinero, Begoña, Yuste‐Checa, Patricia, Ruiz‐Sala, Pedro, Calvo, Rocio, Jalan, Anil, Marín, Laura López, Campos, Oscar, Ruiz, Maria Ángeles, Miguel, Marta San, Vázquez, Maria, Castro, Margarita, Ferrer, Isaac, Navarrete, Rosa, Desviat, Lourdes Ruiz, Lapunzina, Pablo, Ugarte, Magdalena, Pérez‐Cerdá, Celia

“…Summary Purpose Pyridoxine‐dependent epilepsy seizure (PDE; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically…”
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Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man by Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz

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Margarita Salas (1938–2019) by Avila, Jesús, Mayor, Federico, Ruiz-Desviat, Lourdes

“…Biochemist whose discoveries led to faster, more-accurate DNA testing. Biochemist whose discoveries led to faster, more-accurate DNA testing. Margarita Salas…”
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Delivery of oligonucleotide‐based therapeutics: challenges and opportunities by Hammond, Suzan M, Aartsma‐Rus, Annemieke, Alves, Sandra, Borgos, Sven E, Buijsen, Ronald A M, Collin, Rob W J, Covello, Giuseppina, Denti, Michela A, Desviat, Lourdes R, Echevarría, Lucía, Foged, Camilla, Gaina, Gisela, Garanto, Alejandro, Goyenvalle, Aurelie T, Guzowska, Magdalena, Holodnuka, Irina, Jones, David R, Krause, Sabine, Lehto, Taavi, Montolio, Marisol, Van Roon‐Mom, Willeke, Arechavala‐Gomeza, Virginia

“…Nucleic acid‐based therapeutics that regulate gene expression have been developed towards clinical use at a steady pace for several decades, but in recent…”
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PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE (PAH) MISSENSE VARIANTS USING ACMG/AMP/ACGS RECOMMENDATIONS, VARIANT EFFECT PREDICTORS (VEP) AND 3D ANALYSI by Himmelreich, Nastassja, Navarrete, Rosa, Desviat, Lourdes Ruiz, Ramon, Santiago, Perez, Belen, Blau, Nenad

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Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man: e0122966 by Rivera-Barahona, Ana, Sanchez-Alcudia, Rocio, Viecelli, Hiu Man, Ruefenacht, Veronique, Perez, Belen, Ugarte, Magdalena, Haeberle, Johannes, Thony, Beat, Desviat, Lourdes Ruiz

“…The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last…”
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Genetic diversity within the R408W phenylketonuria mutation lineages in Europe by Tighe, Orna, Dunican, Donncha, O'Neill, Charles, Bertorelle, Giorgio, Beattie, Diane, Graham, Colin, Zschocke, Johannes, Cali, Francesco, Romano, Valentino, Hrabincova, Eva, Kozak, Libor, Nechyporenko, Marina, Livshits, Ludmilla, Guldberg, Per, Jurkowska, Monika, Zekanowski, Cezary, Perez, Belen, Desviat, Lourdes Ruiz, Ugarte, Magdalena, Kučinskas, Vaidutis, Knappskog, Per, Treacy, Eileen, Naughten, Eileen, Tyfield, Linda, Byck, Susan, Scriver, Charles R., Mayne, Philip D., Croke, David T.

“…The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two…”
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