Therapeutic upregulation of gene expression in inherited cardiomyopathies from current approaches to future directions.
Rosemary B. Kirk, C. Santiago, Hugh Watkins et al.
· Nature Cardiovascular Resear... · 0 citations
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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.
· Molecular Therapy: Nucleic A... · 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.
· bioRxiv · 0 citations