Article
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Acta neuropathologica communications - 9 Jan 2023
Swan Alexander H, Schindler Roland F R, Savarese Marco, Mayer Isabelle, Rinné Susanne, Bleser Felix, Schänzer Anne, Hahn Andreas, Sabatelli Mario, Perna Francesco, Chapman Kathryn, Pfuhl Mark, Spivey Alan C, Decher Niels, Udd Bjarne, Tasca Giorgio, Brand Thomas
Abstract excerpt
The Popeye domain containing (POPDC) genes encode sarcolemma-localized cAMP effector proteins. Mutations in blood vessel epicardial substance (BVES) also known as POPDC1 and POPDC2 have been associated with limb-girdle muscular dystrophy and cardiac arrhythmia. Muscle biopsies of affected patients display impaired membrane trafficking of both POPDC isoforms. Biopsy material of patients carrying mutations in BVES...
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