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Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein.

Abstract:

Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in at least 8 contractile protein genes, most commonly beta myosin heavy chain, myosin binding protein C, and cardiac troponin T. Affected individuals are heterozygous for a particular mutation, and most evidence suggests that the mutant protein acts in a dominant-negative fashion. To investigate the functional properties of a truncated troponin T shown to cause HCM, both wild-type and mutant human cardiac troponin T were overe...

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Publication status:
Published

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Publisher copy:
10.1161/01.res.86.11.1146

Authors


Redwood, C More by this author
Lohmann, K More by this author
Esposito, GM More by this author
Elliott, K More by this author
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Journal:
Circulation research
Volume:
86
Issue:
11
Pages:
1146-1152
Publication date:
2000-06-05
DOI:
EISSN:
1524-4571
ISSN:
0009-7330
URN:
uuid:9d1dc14e-e1c6-4b52-9dd6-8768213e9a81
Source identifiers:
104205
Local pid:
pubs:104205

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