Author

Lourdes R Desviat

Consejo Superior de Investigaciones CientíficasORCID 0000-0003-0492-3323Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2

Frequent Co-Authors

Ainhoa Martínez‐Pizarro· 2 shared Brage Storstein AndreseniD· 2 shared Lise Lolle HolmiD· 2 shared Thomas Koed DoktoriD· 2 shared Eva RichardiD· 1 shared Jesper Foged HavelundiD· 1 shared José J. LucasiD· 1 shared Julia Pose‐UtrillaiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersNeuroscience

Ainhoa Martínez‐Pizarro

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2 papers

Recent·Most cited

NeuroscienceNAR Molecular MedicinePeer-reviewedOct 1, 2025

OLIGONUCLEOTIDES TARGETING THE SPLICE ACCEPTOR SITE DOWNSTREAM OF A MICROEXON AS AN INNOVATIVE THERAPY FOR AUTISM

Ainhoa Martínez‐Pizarro, Sara Picó, Mar Álvarez…·Lourdes R Desviat

The paper demonstrates that splice-switching antisense oligonucleotides (SSOs) targeting the downstream splice acceptor site of a microexon can modulate microexon inclusion and restore protein levels of ASD risk genes.

5 citations

humanexperimental assay

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Molecular BiologyMolecular Therapy — Nucleic AcidsPeer-reviewedDec 12, 2023

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

Ulrika Simone Spangsberg Petersen, Maja Dembić, Ainhoa Martínez‐Pizarro…·Brage Storstein Andresen

This study shows that modulating pseudoexon splicing in the PCCA gene with antisense oligonucleotides restores enzyme activity in propionic acidemia by rescuing PCCA and PCCB protein levels.

16 citations

humanexperimental assay

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