Article
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.
Journal of molecular and cellular cardiology - 1 Aug 2018
Ehsan Mehroz, Kelly Matthew, Hooper Charlotte, Yavari Arash, Beglov Julia, Bellahcene Mohamed, Ghataorhe Kirandeep, Poloni Giulia, Goel Anuj, Kyriakou Theodosios, Fleischanderl Karin, Ehler Elisabeth, Makeyev Eugene, Lange Stephan, Ashrafian Houman, Redwood Charles, Davies Benjamin, Watkins Hugh, Gehmlich Katja
Abstract excerpt
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...
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