Ana I. Moreno-Manuel

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

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

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.