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Author

Alexander Sparrow

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Open access Aug 2026

Functional analysis of TTN uORFs reveals context-dependent translational regulation

Familial dilated cardiomyopathy (DCM) is a common condition with a high clinical burden, and no therapies that target the underlying genetic mechanisms. The leading genetic cause of DCM is heterozygous truncating variants in TTN, which are thought to drive disease through haploinsufficiency, where titin is reduced. Thi...

Rosemary B. Kirk, Alexander J. Sparrow, Marta Moya-Jódar et al. · 0 citations
Open access Jul 2026

Unmasking Supervillin: SVIL haploinsufficiency causes hypertrophic cardiomyopathy by impairing mechanotransduction and cellular energetics

Background Rare heterozygous loss-of-function (LoF) variants in SVIL, encoding the Z-disk and costameric protein supervillin, have recently been identified as a cause of hypertrophic cardiomyopathy (HCM). Although supervillin is implicated in actin-dependent mechanotransduction, the mechanisms linking SVIL deficiency t...

Yifan J. Li, BMedSci Yiangos Psaras MBChB, V. Steeples et al. · 0 citations

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