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Titin, the largest protein known, has attracted a lot of interest in the cardiovascular field in recent years, since the discovery that truncating variants in titin are commonly found in patients with dilated cardiomyopathy. This review will discuss the contribution of variants in titin to inherited cardiac conditions (cardiomyopathies) and how model systems, such as animals and cellular systems, can help to provide insights into underlying disease mechanisms. It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies.

Original publication

DOI

10.1007/s10974-019-09518-w

Type

Journal article

Journal

J Muscle Res Cell Motil

Publication Date

30/05/2019

Keywords

Animal models, CRISPR/Cas9, Cardiomyopathy, Genome-engineering, Induced pluripotent stem cell derived cardiomyocytes, Titin