Author

Juan Manuel Ruiz Robles

Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III;ORCID 0000-0002-0566-9315Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:cell type annotation· 1 Assay:electronic health records· 1 Approach:genetic perturbation / CRISPR· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Álvaro MacíasiD· 2 shared Ana I. Moreno-ManueliD· 2 shared Fernando MartineziD· 2 shared Francisco Jose Bermudez-JimeneziD· 2 shared Francisco Miguel CruziD· 2 shared José JalifeiD· 2 shared Juan Jiménez-JáimeziD· 2 shared Aitana Braza‐BoïlsiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersMolecular Biology

Álvaro MacíasORCID

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2 papers

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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Molecular BiologybioRxivPreprintJun 7, 2023

Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome

Francisco Miguel Cruz, Álvaro Macías, Ana I. Moreno-Manuel…·José Jalife

This paper shows that a mutation breaking the Cys122-to-Cys154 disulfide bond in Kir2.1 channels disrupts PIP2 binding and causes arrhythmias in Andersen-Tawil Syndrome.

2 citations

mouseelectronic health records

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