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Journal article

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.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1007/s10974-019-09518-w

Authors

More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0003-4019-1844


Publisher:
Springer
Journal:
Journal of Muscle Research and Cell Motility More from this journal
Volume:
40
Issue:
2
Pages:
159–167
Publication date:
2019-05-30
Acceptance date:
2019-05-28
DOI:
EISSN:
1573-2657
ISSN:
0142-4319


Language:
English
Keywords:
Pubs id:
pubs:1004804
UUID:
uuid:7521ebda-4f6d-4976-bea6-1854eaebde9a
Local pid:
pubs:1004804
Source identifiers:
1004804
Deposit date:
2019-06-01
ARK identifier:

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