Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

Abstract 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 p...

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Bibliographic Details
Main Authors: Alexander H. Swan, Roland F. R. Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C. Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Acta Neuropathologica Communications
Subjects:
Popeye domain
Limb-girdle muscular dystrophy
Protein–protein interaction
Membrane trafficking
Mutation
α-helix
Online Access:https://doi.org/10.1186/s40478-022-01501-w

Internet

https://doi.org/10.1186/s40478-022-01501-w

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