The giant titin: how to evaluate its role in cardiomyopathies

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

doi:10.1007/s10974-019-09518-w

The giant titin: how to evaluate its role in cardiomyopathies

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

Cardiovascular Sciences

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

203 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 language	English
Pages (from-to)	159-167
Number of pages	9
Journal	Journal of Muscle Research and Cell Motility
Volume	40
Issue number	2
DOIs	https://doi.org/10.1007/s10974-019-09518-w
Publication status	Published - 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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10.1007/s10974-019-09518-wLicence: Creative Commons: Attribution (CC BY)

Azad_et_al_The_giant_titin_how_to_evaluate_its_role_in_cardiomyopathies_Journal_of_Muscle_Research_and_Cell_Motility_2019
Azad, A., Poloni, G., Sontayananon, N. et al. J Muscle Res Cell Motil (2019). https://doi.org/10.1007/s10974-019-09518-w
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https://link.springer.com/article/10.1007/s10974-019-09518-wLicence: Creative Commons: Attribution (CC BY)

Cite this

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title = "The giant titin: how to evaluate its role in cardiomyopathies",

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.",

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AU - Sontayananon, Naeramit

AU - Jiang, He

AU - Gehmlich, Katja

PY - 2019/6

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KW - Genome-engineering

KW - Induced pluripotent stem cell derived cardiomyocytes

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The giant titin: how to evaluate its role in cardiomyopathies

Abstract

Keywords

ASJC Scopus subject areas

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