Álvaro Macías

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

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

Endothelial β3-Adrenergic Receptor activation prevents pulmonary hypertension

This study shows that activating the endothelial β3-adrenergic receptor prevents pulmonary hypertension by improving vascular function and reducing remodeling.

Novel insights into IKur modulation by Lgi3-4: Implications in atrial fibrillation

This study shows Lgi3-4 modulate IKur by interfering with KV1.5-KVβ interactions, contributing to atrial fibrillation pathophysiology.

Repurposing polyamines to prevent arrhythmias in Short QT Syndrome type 3, a potentially lethal disease

This study shows that polyamine administration can prolong cardiac repolarization and reduce arrhythmias in a mouse model of SQTS3 caused by Kir2.1M301K mutation.

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

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.