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2017 ; 8
(ä): 852
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Ankyrins and Spectrins in Cardiovascular Biology and Disease
#MMPMID29163198
El Refaey MM
; Mohler PJ
Front Physiol
2017[]; 8
(ä): 852
PMID29163198
show ga
Ankyrins are adaptor proteins critical for the expression and targeting of
cardiac membrane proteins, signaling molecules, and cytoskeletal elements.
Findings in humans and animal models have highlighted the in vivo roles for
ankyrins in normal physiology and in cardiovascular disease, most notably in
cardiac arrhythmia. For example, human ANK2 loss-of-function variants are
associated with a complex array of electrical and structural phenotypes now
termed "ankyrin-B syndrome," whereas alterations in the ankyrin-G pathway for
Na(v) channel targeting are associated with human Brugada syndrome. Further, both
ankyrin-G and -B are now linked with acquired forms of cardiovascular disease
including myocardial infarction and atrial fibrillation. Spectrins are
ankyrin-associated proteins and recent studies support the critical role of
ankyrin-spectrin interactions in normal cardiac physiology as well as regulation
of key ion channel and signaling complexes. This review will highlight the roles
of ankyrins and spectrins in cardiovascular physiology as well as illustrate the
link between the dysfunction in ankyrin- and spectrin-based pathways and disease.
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