Ainhoa Pizarro-Martinez
La Paz, MD, Spain
Last Updated: 09/26/2026
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Found 13 publications
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
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
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Journal: Human molecular genetics
Published: December 26, 2023
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Journal: Molecular therapy. Nucleic acids
Published: July 10, 2023
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
Journal: Nucleic acid therapeutics
Published: July 14, 2022
RNA solutions to treat inborn errors of metabolism.
Journal: Molecular genetics and metabolism
Published: May 25, 2022
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
Journal: Nature communications
Published: April 18, 2022
Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: February 25, 2022
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
Journal: PLoS genetics
Published: November 17, 2017
Last Updated: 09/26/2026