Author

Patricia Sanchez-Perez

Centro Nacional de Investigaciones Cardiovasculares Carlos III;

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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 Amaia Talavera-GutiérreziD· 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

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

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, Álvaro Macías, Ana I Moreno-Manuel, Patricia Sanchez-Perez, Marre Corver, Paula G Socuéllamos, Amaia Talavera-Gutiérrez, Francisco Jose Bermudez-Jimenez, Eva Cabrera Borrego, Rosa Macias-Ruiz, Fernando Martinez, Juan Pablo Ochoa, Sean J Jurgens, , 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.

bioRxiv · Nov 10, 2026 · PreprintMolecular Biology