Article

Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking

2022-10-17

Abstract excerpt

<h4>Background</h4> The Popeye domain containing (POPDC) genes encode sarcolemma-localised cAMP effector proteins. Mutations in BVES (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. <h4>Methods</h4> Biopsy material of patients carrying mutations in BVES were i...

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Literature Corpus work: 4f8ecf1a-867f-5660-99d5-0a5bc463824a
DOI: 10.1101/2022.10.13.511879

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