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.

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

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

The paper identifies genetic markers for anthracycline-induced cardiotoxicity risk by analyzing intermediate molecular phenotypes in mice and human cohorts.

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.

This paper shows that MKK6 deficiency leads to cardiac dysfunction through hyperactivation of the MKK3-p38γ/δ-mTOR pathway, causing hypertrophy and fibrosis, and highlights potential cardiotoxicity of p38 inhibitors.

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.