Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8473161 | Journal of Molecular and Cellular Cardiology | 2018 | 35 Pages |
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.
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Authors
Mehroz Ehsan, Matthew Kelly, Charlotte Hooper, Arash Yavari, Julia Beglov, Mohamed Bellahcene, Kirandeep Ghataorhe, Giulia Poloni, Anuj Goel, Theodosios Kyriakou, Karin Fleischanderl, Elisabeth Ehler, Eugene Makeyev, Stephan Lange, Houman Ashrafian,