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Mutant muscle LIM protein C58G causes cardiomyopathy through protein depletion

Abstract:

Cysteine and glycine rich protein 3 (CSRP3) encodes Muscle LIM Protein (MLP), a well-established disease gene for Hypertrophic Cardiomyopathy (HCM). MLP, in contrast to the proteins encoded by the other recognised HCM disease genes, is non-sarcomeric, and has important signalling functions in cardiomyocytes. To gain insight into the disease mechanisms involved, we generated a knock-in mouse (KI) model, carrying the well documented HCM-causing CSRP3 mutation C58G. In vivo phenotyping of homoz...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.1016/j.yjmcc.2018.07.248

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM Cardiovascular Medicine
Role:
Author
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Funding agency for:
Ehsan, M
More from this funder
Funding agency for:
Ehsan, M
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Publisher:
Elsevier Publisher's website
Journal:
Journal of Molecular and Cellular Cardiology Journal website
Volume:
121
Issue:
1
Pages:
287-296
Publication date:
2018-07-23
Acceptance date:
2018-07-21
DOI:
EISSN:
1095-8584
ISSN:
0022-2828
Pubs id:
pubs:890974
URN:
uri:e5280b23-df9c-48b2-a5e6-edb0aab4fc00
UUID:
uuid:e5280b23-df9c-48b2-a5e6-edb0aab4fc00
Local pid:
pubs:890974

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