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

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 d...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830914/
https://www.ncbi.nlm.nih.gov/pubmed/36624536
http://dx.doi.org/10.1186/s40478-022-01501-w

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