Lourdes Ruiz Desviat (Lourdes R Desviat)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 16

Top Venues

Nucleic acid therapeutics

Human molecular genetics

International journal of molecular sciences

Oxidative medicine and cellular longevity

This page only lists publications with an associated author ORCID identifier.

Publications

Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes Ruiz Desviat
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice. Human molecular genetics (2024)
Ainhoa Martínez-Pizarro, Mar Álvarez, Maja Dembic, Caroline A Lindegaard, Margarita Castro, Eva Richard, Brage S Andresen, Lourdes Ruiz Desviat
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria. Nucleic acid therapeutics 34 (3) (2024)
Ainhoa Martínez-Pizarro, Mar Álvarez, Maja Dembic, Caroline A Lindegaard, Margarita Castro, Eva Richard, Brage S Andresen, Lourdes Ruiz Desviat
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria. Nucleic acid therapeutics 34 (3) (2024)
Ainhoa Martínez-Pizarro, Mar Álvarez, Maja Dembic, Caroline A Lindegaard, Margarita Castro, Eva Richard, Brage S Andresen, Lourdes Ruiz Desviat
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria. Nucleic acid therapeutics (2024)
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes Ruiz Desviat
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice. Human molecular genetics 33 (12) (2024)
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes Ruiz Desviat
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice. Human molecular genetics 33 (12) (2024)
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes Ruiz Desviat
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice. Human molecular genetics 33 (12) (2024)
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy. International journal of molecular sciences 24 (3) (2023)
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy. International journal of molecular sciences 24 (3) (2023)
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy. International journal of molecular sciences 24 (3) (2023)
Leandro R Soria, Georgios Makris, Alfonso M D'Alessio, Angela De Angelis, Iolanda Boffa, Veronica Maria Pravatà, Véronique Rüfenacht, Sergio Attanasio, Edoardo Nusco, Paola Arena, Andrew T Ferenbach, Debora Paris, Paola Cuomo, Rosanna Capparelli, Matthew Nitzahn, Gerald S Lipshutz, Ainhoa Martínez-Pizarro, Eva Richard, Lourdes Ruiz Desviat, Johannes Häberle, Daan M F van Aalten, Nicola Brunetti-Pierri
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. Nature communications 13 (1) (2022)
Ainhoa Martínez-Pizarro, Fátima Leal, Lise Lolle Holm, Thomas K Doktor, Ulrika S S Petersen, María Bueno, Beat Thöny, Belén Pérez, Brage S Andresen, Lourdes Ruiz Desviat
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene. Nucleic acid therapeutics 32 (5) (2022)
Rosa Navarrete, Fátima Leal, Ana I Vega, Ana Morais-López, María Teresa Garcia-Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Ana Bergua, Inmaculada Vives, Inmaculada García-Jiménez, Raquel Yahyaoui, Consuelo Pedrón-Giner, Amaya Belanger-Quintana, Sinziana Stanescu, Elvira Cañedo, Oscar García-Campos, María Bueno-Delgado, Carmen Delgado-Pecellín, Isidro Vitoria, María Dolores Rausell, Elena Balmaseda, Mari Luz Couce, Lourdes Ruiz Desviat, Begoña Merinero, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. European journal of human genetics : EJHG 27 (4) (2019)
Eva Richard, Lorena Gallego-Villar, Ana Rivera-Barahona, Alfonso Oyarzábal, Belén Pérez, Pilar Rodríguez-Pombo, Lourdes Ruiz Desviat
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. Oxidative medicine and cellular longevity 2018 (2018)
Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage Storstein Andresen, Lourdes Ruiz Desviat
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site. PLoS genetics 14 (4) (2018)
Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes Ruiz Desviat
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. Scientific reports 7 (1) (2017)

Lourdes Ruiz Desviat.css-eqlu8i{font-size:small;padding-left:4px;} (Lourdes R Desviat)

Publication Activity (10 Years)

Top Topics

Top Venues

Lourdes Ruiz Desviat (Lourdes R Desviat)