Ablation of the sarcomeric protein myopalladin (MYPN), associated with human cardiomyopathies, results in dilated cardiomyopathy, which is severely aggravated by biomechanical stress, suggesting that skeletal myopathy patients carrying MYPN loss-of-function mutations may develop cardiomyopathy under conditions of cardiac stress.

FHOD1 and CARP/Ankrd1 interact with the N-terminal region of palladin and cardiomyocyte-specific deletion of palladin in adult, but not embryonic, mice leads to dilated cardiomyopathy associated with intercalated disc widening.

Downregulation of PTBP1 in neurons, but not astrocytes, alleviates motor symptoms in a Parkinson’s disease mouse model by inducing dopaminergic marker expression in striatal neurons and increasing striatal dopamine levels.