Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response

Hayley J Bennett, John Bernard Davenport, Richard F Collins, Andrew W Trafford, Christian Pinali, Ashraf Kitmitto

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Biochemistry, Genetics and Molecular Biology