Publications by authors named "Eva Richard"

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H4K16 acylations destabilize chromatin architecture and facilitate transcriptional response during metabolic perturbations.
Sandra Nitsch, Aria E Coraor, Tamas Schauer, Yiheng Wu, Jianfeng Sun, Eva Richard

Mol Cell· December 2025

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Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes.
Anabel Cámara-Checa, Mar Álvarez, Josu Rapún, Sara Pérez-Martín, Roberto Núñez-Fernández, Eva Richard

J Inherit Metab Dis· May 2025

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Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.
Eva Richard, Hannah Marchuk, Mar Álvarez, Wentao He, Xiaoxin Chen

Cell Mol Life Sci· April 2025

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Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.
Alessia Cavazza, Francisco J Molina-Estévez, Álvaro Plaza Reyes, Victor Ronco, Asma Naseem, Eva Richard

Mol Ther Nucleic Acids· March 2025

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Novel CRISPR-Cas9 iPSC knockouts for PCCA and PCCB genes: advancing propionic acidemia research.
Emilio M García-Tenorio, Mar Álvarez, Mónica Gallego-Bonhomme, Lourdes R Desviat, Eva Richard

Hum Cell· March 2025

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Hyperactive delta isoform of PI3 kinase enables long-distance regeneration of adult rat corticospinal tract.
Kristyna Karova, Zuzana Polcanova, Lydia Knight, Stepanka Suchankova, Bart Nieuwenhuis, Richard Eva

Mol Ther· February 2025

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Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia Eva Richard.
Eva Richard, Hannah Marchuk, Mar Álvarez, Wentao He, Xiaoxin Chen

Res Sq· January 2025

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The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia.
You Wang, Suhong Zhu, Wentao He, Hannah Marchuk, Eva Richard

Basic Res Cardiol· December 2024

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Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.
Anke Schumann, Ainhoa Martinez-Pizarro, Eva Richard, Christoph Schell, Anna Laura Kössinger

Sci Rep· December 2024

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Exploring RNA therapeutics for urea cycle disorders.
Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R Desviat

J Inherit Metab Dis· November 2024

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PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Eva Richard

Hum Mol Genet· June 2024

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Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria.
Ainhoa Martínez-Pizarro, Mar Álvarez, Maja Dembic, Caroline A Lindegaard, Margarita Castro, Eva Richard

Nucleic Acid Ther· June 2024

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Regulating gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm

Mol Ther Nucleic Acids· March 2024

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Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Laura Arribas-Carreira, Margarita Castro, Fernando García, Rosa Navarrete, Irene Bravo-Alonso, Eva Richard

Int J Mol Sci· February 2024

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Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.
Ainhoa Martínez-Pizarro, Nadège Calmels, Audrey Schalk, Camille Wicker, Eva Richard

Gene· January 2024

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Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard

Int J Mol Sci· January 2023

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O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
Leandro R Soria, Georgios Makris, Alfonso M D'Alessio, Angela De Angelis, Iolanda Boffa, Eva Richard

Nat Commun· September 2022

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Promoting axon regeneration in the central nervous system by increasing PI3-kinase signaling.
Bart Nieuwenhuis, Richard Eva

Neural Regen Res· June 2022

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Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.
Arístides López-Márquez, Ainhoa Martínez-Pizarro, Belén Pérez, Eva Richard, Lourdes R Desviat

Methods Mol Biol· March 2022

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Quantifying inter-organelle membrane contact sites using proximity ligation assay in fixed optic nerve sections.
Jared Ching, Andrew Osborne, Richard Eva, Julien Prudent, Patrick Yu-Wai-Man

Exp Eye Res· December 2021

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Age-related loss of axonal regeneration is reflected by the level of local translation.
Susan van Erp, Annemiek A van Berkel, Eline M Feenstra, Pabitra K Sahoo, Laura J Wagstaff, Richard Eva

Exp Neurol· May 2021

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Axonal Organelles as Molecular Platforms for Axon Growth and Regeneration after Injury.
Veselina Petrova, Bart Nieuwenhuis, James W Fawcett, Richard Eva

Int J Mol Sci· February 2021

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Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.
Esmeralda Alonso-Barroso, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard

Int J Mol Sci· January 2021

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Cardiac Complications of Propionic and Other Inherited Organic Acidemias.
Kyung Chan Park, Steve Krywawych, Eva Richard, Lourdes R Desviat, Pawel Swietach

Front Cardiovasc Med· December 2020

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Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS.
Veselina Petrova, Craig S Pearson, Jared Ching, James R Tribble, Andrea G Solano, Richard Eva

Nat Commun· November 2020

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