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Open access Sep 2026

Homozygous TNNC1-A8V Causes Impaired Diastolic Function and Restrictive Cardiomyopathy in Children and Mice

Background: Pathologic variants in TNNC1 are associated with the development of hypertrophic cardiomyopathy (HCM). Unlike other sarcomeric genes, TNNC1 variants tend to cause early onset disease, and the most common variant identified in the gene, TNNC1-A8V, may also lead to severe diastolic dysfunction and restrictive...

Paula F. Nieto Morales, Enya R. Dewars, Amanda M. Mascarenhas et al. · 0 citations
Oct 2026

Structure of the actively growing actin filament pointed end facilitated by Leiomodin-2.

Cardiac contraction depends on synchronized interactions between myosin-based thick filaments and actin-based thin filaments (TFs). Precise regulation of TF length is vital for cardiac function, as any alteration in length leads to severe myopathies. Actin filaments form the backbone of the TF and have two unequal ends...

C. Risi, Tania M. Larrinaga, Alla S. Kostyukova et al. · 0 citations

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