Author

Juan Diego Gutiérrez-Ávila

Instituto de Salud Carlos IIIORCID 0000-0002-8086-767XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1

Frequent Co-Authors

Aina Prat-PlanasiD· 1 shared Daniel GrinbergiD· 1 shared Estefanía Alcaide-ConsuegraiD· 1 shared Mónica Centeno-PlaiD· 1 shared Raquel RabionetiD· 1 shared Roser UrreiztiiD· 1 shared Sophie GibsoniD· 1 shared Susana BalcellsiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperMolecular Biology

Aina Prat-PlanasORCID

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1 paper

Recent·Most cited

Molecular BiologybioRxivPreprintJan 22, 2024

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson…·Susana Balcells

The paper investigates the subcellular localization of truncated MAGEL2 proteins in Schaaf-Yang syndrome, finding that all truncated variants predominantly localize to the nucleus, with more severe clinical features associated with greater nuclear retention.

DOI 10.1101/2024.01.22.576607

humanproteomics

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