Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.
Joyce C OhiriLisa M Dellefave-CastilloGarima TomarLisa D WilsbacherLubna ChoudhuryDavid Y BarefieldDominic E FullenkampAnthony M GacitaTanner O MonroeLorenzo L PesceMalorie BlancardLauren A VaughtAlfred L GeorgeAlexis R DemonbreunMegan J PuckelwartzElizabeth M McNallyPublished in: Journal of the American Heart Association (2024)
pathogenic variants associate with a predisposition to arrhythmias, which can be modeled in iPSC-CMs. Reduction of filamin C prolonged field potential, a surrogate for action potential, and with bortezomib-induced proteasome inhibition, reduced filamin C led to greater arrhythmia potential and impaired function.