Connexins and disease

Mario Delmar; Dale W. Laird; Christian C. Naus; Morten S. Nielsen; Vytautas K. Verselis; Thomas W. White

doi:10.1101/cshperspect.a029348

Connexins and disease

Mario Delmar, Dale W. Laird, Christian C. Naus, Morten S. Nielsen, Vytautas K. Verselis, Thomas W. White

Neuroscience

Research output: Contribution to journal › Article › peer-review

55 Scopus citations

Abstract

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.

Original language	English (US)
Article number	a029348
Journal	Cold Spring Harbor Perspectives in Biology
Volume	10
Issue number	9
DOIs	https://doi.org/10.1101/cshperspect.a029348
State	Published - Sep 1 2018

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1101/cshperspect.a029348

Cite this

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AU - Delmar, Mario

AU - Laird, Dale W.

AU - Naus, Christian C.

AU - Nielsen, Morten S.

AU - Verselis, Vytautas K.

AU - White, Thomas W.

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Connexins and disease

Abstract

ASJC Scopus subject areas

UN SDGs

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