Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy.
Helsinki, Finland. In Clin Genet, Feb 2016
UNASSIGNED: Dilated cardiomyopathy (DCM), a genetically heterogeneous cardiac disease characterized by left ventricular dilatation and systolic dysfunction, is caused majorly by truncations of titin (TTN), especially in A-band region.
The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.
Calgary, Canada. In Can J Cardiol, Nov 2015
Truncating variants in TTN have been reported in about 25% of patients with DCM and in 2%-3% of controls; however, most of the disease-associated truncation variants were found in constitutively expressed exons across the gene and in A-band titin, which is abundant in both major cardiac isoforms N2B and N2BA.
The structure and regulation of human muscle α-actinin.
Vienna, Austria. In Cell, 2015
The structure provides insight into the phosphoinositide-based mechanism controlling its interaction with sarcomeric proteins such as titin, lays a foundation for studying the impact of pathogenic mutations at molecular resolution, and is likely to be broadly relevant for the regulation of spectrin-like proteins.
A new paradigm for muscle contraction.
Calgary, Canada. In Front Physiol, 2014
Just over a decade ago, we discovered that eccentric contractions were associated with a force that could not be assigned to actin and myosin, but was at least in part associated with the filamentous protein titin.