Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.
Frontiers in cardiovascular medicine(2023)
摘要
As disease-related homozygous truncating desmocollin-2 variants lacking the transmembrane domain are not localized at the plasma membrane, we predict that some of the investigated prodomain variants may be relevant in the context of arrhythmogenic cardiomyopathy due to disturbed intracellular transport.
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关键词
intracellular cadherin transport
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