The junctophilin family of proteins: from bench to bedside.
Abstract
Excitable tissues rely on junctional membrane complexes to couple cell surface signals
to intracellular channels. The junctophilins have emerged as a family of proteins
critical in coordinating the maturation and maintenance of this cellular ultrastructure.
Within skeletal and cardiac muscle, junctophilin 1 and junctophilin 2, respectively,
couple sarcolemmal and intracellular calcium channels. In neuronal tissue, junctophilin
3 and junctophilin 4 may have an emerging role in coupling membrane neurotransmitter
receptors and intracellular calcium channels. These important physiological roles
are highlighted by the pathophysiology which results when these proteins are perturbed,
and a growing body of literature has associated junctophilins with the pathogenesis
of human disease.
Type
Journal articleSubject
Muscle, SkeletalMyocardium
Neurons
Humans
Muscular Diseases
Cardiomyopathies
Muscle Proteins
Membrane Proteins
Phylogeny
Calcium Signaling
Mutation
Muscle, Striated
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https://hdl.handle.net/10161/20313Published Version (Please cite this version)
10.1016/j.molmed.2014.02.004Publication Info
Landstrom, AP; Beavers, DL; & Wehrens, XHT (2014). The junctophilin family of proteins: from bench to bedside. Trends in molecular medicine, 20(6). pp. 353-362. 10.1016/j.molmed.2014.02.004. Retrieved from https://hdl.handle.net/10161/20313.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Andrew Paul Landstrom
Associate Professor of Pediatrics
Dr. Landstrom is a physician scientist who specializes in the care of children and
young adults with arrhythmias, heritable cardiovascular diseases, and sudden unexplained
death syndromes. As a clinician, he is trained in pediatric cardiology with a focus
on arrhythmias and genetic diseases of the heart. He specializes in caring for patients
with heritable arrhythmia (channelopathies) such as long QT syndrome, Brugada syndrome,
catecholaminergic polymorphic ventricular tachycardia,

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