2007
DOI: 10.1093/cvr/cvm084
|View full text |Cite
|
Sign up to set email alerts
|

Sarcomeric proteins and inherited cardiomyopathies

Abstract: Over the last two decades, a large number of mutations have been identified in sarcomeric proteins as a cause of hypertrophic, dilated or restrictive cardiomyopathy. Functional analyses of mutant proteins in vitro have revealed several important functional changes in sarcomeric proteins that might be primarily involved in the pathogenesis of each cardiomyopathy. Creation of transgenic or knock-in animals expressing mutant proteins in their hearts confirmed that these mutations in genes for sarcomeric proteins … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

6
121
0
7

Year Published

2008
2008
2022
2022

Publication Types

Select...
5
2
1

Relationship

0
8

Authors

Journals

citations
Cited by 161 publications
(134 citation statements)
references
References 99 publications
6
121
0
7
Order By: Relevance
“…However, its inhibitory function is more pronounced in the presence of Tm. Several hypertrophic/restrictive cardiomyopathy-linked mutations have been reported within the inhibitory region [22,49]. As might be expected, these amino acid replacement(s) in the inhibitory region result in impaired inhibitory function at diastole.…”
Section: Troponin Imentioning
confidence: 69%
See 2 more Smart Citations
“…However, its inhibitory function is more pronounced in the presence of Tm. Several hypertrophic/restrictive cardiomyopathy-linked mutations have been reported within the inhibitory region [22,49]. As might be expected, these amino acid replacement(s) in the inhibitory region result in impaired inhibitory function at diastole.…”
Section: Troponin Imentioning
confidence: 69%
“…However, the question as to whether this domain by itself inhibits myofilament function has not yet been resolved. Finally, hypertrophic/restrictive cardiomyopathy-linked mutations have also been found in this region and, as is the case with mutations found in the inhibitory region, mutations in the C-terminal mobile domain are associated with increased myofilament Ca 2+ sensitivity [49].…”
Section: Troponin Imentioning
confidence: 88%
See 1 more Smart Citation
“…Transgenic mouse models have been used for almost two decades to elucidate the role of mutations associated with cardiomyopathies. 21 Mice overexpressing the p.S151A missense mutation in the Sgcd gene have been shown to develop severe cardiomyopathy at young age with an enhanced lethality depending on the expression level of the mutant protein. 12 This is in line with transgenic mice that develop cardiomyopathy associated with myopathy because of overexpression of wild-type Sgcg cDNA.…”
Section: Discussionmentioning
confidence: 99%
“…The aetiology of the disease is multifactorial and many clinical conditions including genetic factors, viral infections, and toxic agents can lead to DCM. [1][2][3] There is a growing body of evidence suggesting that numerous single gene mutations have an important function in the pathogenesis of familial forms of DCMs. In particular, genes encoding cytoskeletal, sarcomeric, and nuclear proteins, which are engaged in extracellular anchorage or myocardial contractility, have been linked to DCM.…”
Section: Introductionmentioning
confidence: 99%