Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy.
Helsinki, Finland. In Clin Genet, 18 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 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.
Transient misfolding dominates multidomain protein folding.
Zürich, Switzerland. In Nat Commun, 2014
Here we combine microfluidic-mixing single-molecule kinetics, ensemble experiments and molecular simulations to investigate how misfolding between the immunoglobulin-like domains of titin is prevented.