Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/5051
Title: Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome
Authors: Levit, Noah A.
Meşe, Gülistan
Basaly, Mena George R.
White, Thomas W.
Meşe, Gülistan
Izmir Institute of Technology. Molecular Biology and Genetics
Keywords: Genetic disease
Mutation
Epidermis
Connexin 26
Hemichannels
Issue Date: Aug-2012
Publisher: Elsevier Ltd.
Source: Levit, N. A., Meşe, G., Basaly, M. G. R., and White, T. W. (2012). Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. Biochimica et Biophysica Acta - Biomembranes, 1818(8), 2014-2019. doi:10.1016/j.bbamem.2011.09.003
Abstract: Abstract Connexin (Cx) proteins form intercellular gap junction channels by first assembling into single membrane hemichannels that then dock to connect the cytoplasm of two adjacent cells. Gap junctions are highly specialized structures that allow the direct passage of small molecules between cells to maintain tissue homeostasis. Functional activity of nonjunctional hemichannels has now been shown in several experimental systems. Hemichannels may constitute an important diffusional exchange pathway with the extracellular space, but the extent of their normal physiological role is currently unknown. Aberrant hemichannel activity has been linked to mutations of connexin proteins involved in genetic diseases. Here, we review a proposed role for hemichannels in the pathogenesis of Keratitis-Ichthyosis-Deafness (KID) syndrome associated with connexin26 (Cx26) mutations. Continued functional evaluation of mutated hemichannels linked to human hereditary disorders may provide additional insights into the mechanisms governing their regulation in normal physiology and dysregulation in disease. This article is part of a Special Issue entitled: The Communicating junctions, composition, structure and characteristics. © 2011 Elsevier B.V.
URI: http://doi.org/10.1016/j.bbamem.2011.09.003
http://hdl.handle.net/11147/5051
ISSN: 0005-2736
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

Files in This Item:
File Description SizeFormat 
5051.pdfİnceleme (Review)692.97 kBAdobe PDFThumbnail
View/Open
Show full item record

CORE Recommender

SCOPUSTM   
Citations

19
checked on Jul 31, 2021

WEB OF SCIENCETM
Citations

18
checked on Jul 31, 2021

Page view(s)

12
checked on Aug 5, 2021

Download(s)

14
checked on Aug 5, 2021

Google ScholarTM

Check

Altmetric


Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.