Lourdes R. Desviat
Madrid, MD 28029, Spain
Last Updated: 09/26/2026
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Found 82 publications
Targeted gene editing of PCCA pseudoexon using CRISPR-Cas12a for potential therapy in propionic acidemia.
Journal: Molecular therapy. Nucleic acids
Published: February 02, 2026
Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.
Journal: Molecular therapy. Nucleic acids
Published: February 24, 2025
Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.
Journal: Cellular and molecular life sciences : CMLS
Published: January 21, 2025
Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes.
Journal: Journal of inherited metabolic disease
Published: January 08, 2025
Novel CRISPR-Cas9 iPSC knockouts for PCCA and PCCB genes: advancing propionic acidemia research.
Journal: Human cell
Published: December 14, 2024
Oligonucleotides targeting the 3' splice site downstream of a microexon as an innovative therapy for autism.
Journal: NAR molecular medicine
Published: November 27, 2024
Exploring RNA therapeutics for urea cycle disorders.
Journal: Journal of inherited metabolic disease
Published: July 26, 2024
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Journal: Molecular genetics and metabolism
Published: April 27, 2024
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria.
Journal: Nucleic acid therapeutics
Published: April 09, 2024
Last Updated: 09/26/2026