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Functional analysis of TTN uORFs reveals context-dependent translational regulation

TTN truncating variants cause dilated cardiomyopathy and may be amenable to therapeutic upregulation. Disrupting TTN upstream open reading frames (uORFs) increased luciferase reporter expression, however disrupting endogenous uORFs in hiPSC-derived cardiomyocytes did not increase titin protein. This highlights the importance of validating regulatory mechanisms in disease-relevant cellular contexts.
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