Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing
Summary
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. © 2023 Pohl, Göz, Gärtner, Brodehl, Cimen, Saguner, Schulze-Bahr, Walhorn, Anselmetti and Milting.
| Authors | Pohl GM, Göz M, Gaertner A, Brodehl A, Cimen T, Saguner AM, Schulze-Bahr E, Walhorn V, Anselmetti D, Milting H |
|---|---|
| Journal | Frontiers in cardiovascular medicine |
| Publication Date | 2023;10:1127261 |
| PubMed | 37273868 |
| PubMed Central | PMC10235514 |
| DOI | 10.3389/fcvm.2023.1127261 |