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@article{Gruscheski:2021:10.3390/jcdd8120160,
author = {Gruscheski, L and Brand, T},
doi = {10.3390/jcdd8120160},
journal = {Journal of Cardiovascular Development and Disease},
title = {The role of POPDC proteins in cardiac pacemaking and conduction},
url = {http://dx.doi.org/10.3390/jcdd8120160},
volume = {8},
year = {2021}
}

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TY  - JOUR
AB  - The Popeye domain-containing (POPDC) gene family, consisting of Popdc1 (also known as Bves), Popdc2, and Popdc3, encodes transmembrane proteins abundantly expressed in striated muscle. POPDC proteins have recently been identified as cAMP effector proteins and have been proposed to be part of the protein network involved in cAMP signaling. However, their exact biochemical activity is presently poorly understood. Loss-of-function mutations in animal models causes abnormalities in skeletal muscle regeneration, conduction, and heart rate adaptation after stress. Likewise, patients carrying missense or nonsense mutations in POPDC genes have been associated with cardiac arrhythmias and limb-girdle muscular dystrophy. In this review, we introduce the POPDC protein family, and describe their structure function, and role in cAMP signaling. Furthermore, the pathological phenotypes observed in zebrafish and mouse models and the clinical and molecular pathologies in patients carrying POPDC mutations are described.
AU  - Gruscheski,L
AU  - Brand,T
DO  - 10.3390/jcdd8120160
PY  - 2021///
SN  - 2308-3425
TI  - The role of POPDC proteins in cardiac pacemaking and conduction
T2  - Journal of Cardiovascular Development and Disease
UR  - http://dx.doi.org/10.3390/jcdd8120160
UR  - http://hdl.handle.net/10044/1/93109
VL  - 8
ER  -

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