Article ID Journal Published Year Pages File Type
8473161 Journal of Molecular and Cellular Cardiology 2018 35 Pages PDF
Abstract
In conclusion, the newly generated mouse model provides insights into the underlying disease mechanisms of cardiomyopathy caused by mutations in the non-sarcomeric protein MLP. Furthermore, our cellular experiments suggest that protein depletion and proteasomal overload also play a role in other HCM-causing CSPR3 mutations that we investigated, indicating that reduced levels of functional MLP may be a common mechanism for HCM-causing CSPR3 mutations.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Cell Biology
Authors
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