Author

E. M. Richard

Consejo Superior de Investigaciones CientíficasORCID 0000-0001-9711-1417Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1 Pathology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cancer & tumor microenvironment· 1 Research Focus:cell type annotation· 1 Research Focus:chromatin & epigenetic regulation· 1 Organism:human· 1 Research Focus:metabolism & bioenergetics· 1 Organism:mouse· 1

Frequent Co-Authors

Ainhoa Martínez‐Pizarro· 2 shared Lourdes R. DesviatiD· 2 shared Arístides López‐MárqueziD· 1 shared Belén PéreziD· 1 shared Brage Storstein AndreseniD· 1 shared Claudia Rodríguez-LópeziD· 1 shared Elena Montalvo· 1 shared Jesper Foged HavelundiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersPathology

Ainhoa Martínez‐Pizarro

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2 papers

Recent·Most cited

PathologyHuman Molecular GeneticsPeer-reviewedMar 23, 2024

PAH DEFICIENT PATHOLOGY IN HUMANIZED c.1066-11G>A PHENYLKETONURIA MICE

Ainhoa Martínez‐Pizarro, Sara Picó, Arístides López‐Márquez…·Lourdes R. Desviat

This paper generates a partially humanized mouse model of PKU with the c.1066-11G>A PAH variant, showing splicing defects, metabolic imbalances, and neurological phenotypes.

6 citations

mouseexperimental 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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