Kelsey Moore

TL;DR: The results support a model by which CerS2 and VLC ceramides have a distinct role in lipotoxicity, leading to mitochondrial damage, which results in subsequent adaptive mitophagy, which causes cell death in cardiomyocytes.

TL;DR: The studies establish a developmental basis for MVP through altered cilia-dependent regulation of ECM and suggest that defects in primary cilia genes can be causative to disease phenotype in some patients with MVP.

TL;DR: The exocyst is supported as required for normal ciliogenesis during aortic valve morphogenesis and disrupted ciliogenic signaling and its downstream pathways as contributory to BAV and associated co-morbidities in humans are implicate.

TL;DR: In vivo and in vitro studies have validated genetic findings and revealed FLNA as a central regulator of valve morphogenesis and support Filamin‐A as a protein that regulates the balance between Erk and Smad activation and an inability of Filamin-A deficient valve interstitial cells to effectively remodel the increased ECM production through a β1‐integrin mechanism.

TL;DR: A potential molecular origin for MVP is identified as well as a paracrine DHH-primary cilium cross-talk mechanism that is likely applicable across developmental tissue types is established.