Author

Amaia Talavera-Gutiérrez

Centro Nacional de Investigaciones Cardiovasculares Carlos III;ORCID 0000-0003-0390-7428Unclaimed 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 Research Focus:differential expression· 1 Approach:genetic perturbation / CRISPR· 1 Organism:human· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Álvaro MacíasiD· 1 shared Ana I Moreno-ManueliD· 1 shared Connie R BezzinaiD· 1 shared Eva Cabrera BorregoiD· 1 shared Fernando MartineziD· 1 shared Francisco Jose Bermudez-JimeneziD· 1 shared Francisco Miguel CruziD· 1 shared Isabel martinez Martinez-Carrascoso· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Álvaro MacíasORCID

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1 paper

Recent·Most cited

Molecular BiologybioRxivPreprintNov 10, 2026

A TMEM175 Mutation Disrupts the Lysosomal-Mitochondrial Axis Causing Short QT Syndrome and Sudden Cardiac Death

Francisco Miguel Cruz, Juan Manuel Ruiz-Robles, Isabel martinez Martinez-Carrascoso…·José Jalife

This paper identifies a TMEM175 mutation causing short QT syndrome and sudden cardiac death by disrupting lysosomal-mitochondrial interactions and impairing mitochondrial function.

DOI 10.64898/2026.11.05.764745

humanwhole-exome sequencing

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