Connexins and Disease

Inherited or acquired alterations in the structure and function of connexin proteins have long been associated with disease. In the present work, we review current knowledge on the role of connexins in diseases associated with the heart, nervous system, cochlea, and skin, as well as cancer and pleio...

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Bibliographic Details
Published in:Cold Spring Harbor perspectives in biology 2018-09, Vol.10 (9), p.a029348
Main Authors: Delmar, Mario, Laird, Dale W, Naus, Christian C, Nielsen, Morten S, Verselis, Vytautas K, White, Thomas W
Format: Article
Language:English
Subjects:
Cancer
Cochlea
Connexins
Disease
Medical treatment
Nervous system
Oculodentodigital dysplasia
PERSPECTIVES
Proteins
Structure-function relationships
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Summary:Inherited or acquired alterations in the structure and function of connexin proteins have long been associated with disease. In the present work, we review current knowledge on the role of connexins in diseases associated with the heart, nervous system, cochlea, and skin, as well as cancer and pleiotropic syndromes such as oculodentodigital dysplasia (ODDD). Although incomplete by virtue of space and the extent of the topic, this review emphasizes the fact that connexin function is not only associated with gap junction channel formation. As such, both canonical and noncanonical functions of connexins are fundamental components in the pathophysiology of multiple connexin related disorders, many of them highly debilitating and life threatening. Improved understanding of connexin biology has the potential to advance our understanding of mechanisms, diagnosis, and treatment of disease.
ISSN:1943-0264
1943-0264
DOI:10.1101/cshperspect.a029348