The giant titin: how to evaluate its role in cardiomyopathies

Amar Azad, Giulia Poloni, Naeramit Sontayananon, He Jiang, Katja Gehmlich

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)
159 Downloads (Pure)

Abstract

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 languageEnglish
Pages (from-to)159-167
Number of pages9
JournalJournal of Muscle Research and Cell Motility
Volume40
Issue number2
DOIs
Publication statusPublished - Jun 2019

Keywords

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

ASJC Scopus subject areas

  • Physiology
  • Biochemistry
  • Cell Biology

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