TY - JOUR
T1 - Connexins and Disease
AU - Delmar, Mario
AU - Laird, Dale W
AU - Naus, Christian C
AU - Nielsen, Morten S
AU - Verselis, Vytautas K
AU - White, Thomas W
N1 - Copyright © 2017 Cold Spring Harbor Laboratory Press; all rights reserved.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85028939329&partnerID=8YFLogxK
U2 - 10.1101/cshperspect.a029348
DO - 10.1101/cshperspect.a029348
M3 - Journal article
C2 - 28778872
SN - 1943-0264
VL - 10
SP - 1
EP - 18
JO - Cold Spring Harbor perspectives in biology
JF - Cold Spring Harbor perspectives in biology
IS - 9
M1 - a029348
ER -
