Identifies potential mechanisms by which protein aggregation and PSEN1 variants affect cardiac function in idiopathic dilated cardiomyopathy.
Hypothesis-generating for PSEN1-related cardiomyopathy mechanisms; leaves open whether targeting protein aggregation alters human disease progression.
On the basis of these findings, we propose that 2 mechanisms may link protein aggregation and cardiac function: oligomer-induced changes on Ca(2+) handling and a direct effect of PSEN1 sequence variants on excitation-contraction coupling protein function.
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Gianni et al. (2010) studied this question.
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