Author

Carlos Santos‐Ocaña

Instituto de Salud Carlos IIIORCID 0000-0002-2379-796XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:metabolism & bioenergetics· 1 Assay:metabolomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Abraham José Paredes-FuentesiD· 1 shared Adam J. RauckhorstiD· 1 shared Afshin FayaziiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Ana M Santos-Exposito· 1 shared Andrés Prieto-Rodríguez· 1 shared Àngels García‐CazorlaiD· 1 shared Anna CodinaiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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1 shared paperGenetic & Genomic Medicine

Abraham José Paredes-FuentesORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

PANK2-mediated de novo CoA synthesis is required for metabolic switching to fatty acid oxidation

Sandra M. Nordlie, Robert Schafer, Adam J. Rauckhorst, Ana M Santos-Exposito, Andrés Prieto-Rodríguez, Bryce A. Wilson, Idil A. Evans, Una Hadziamehtovic, Frances Nowlen, Carlos Santos‐Ocaña, Eric B. Taylor, Michael C. Kruer, Sergio Padilla-Lopez

The paper shows PANK2 enables CoA synthesis during fatty acid oxidation by overcoming feedback inhibition, supporting its role in metabolic switching.

bioRxiv · Oct 7, 2025 · PreprintBiochemistry

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian, Aida Maria Bertoli‐Avella, Marta Gómez‐Chiari, Jordi Muchart, Abraham José Paredes-Fuentes, María del Mar O’Callaghan, Irene Machado-Casas, Ingrid Cristian, Jennifer Morrison, Àngels García‐Cazorla, Anna Codina, Mohammad Miryounesi, Emir Zonic, , Roser Urreizti

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

medRxiv · Nov 27, 2024 · PreprintGenetic & Genomic Medicine