Altered Inhibition of Cx26 Hemichannels by pH and Zn2+ in the A40V Mutation Associated with Keratitis-Ichthyosis-Deafness Syndrome-Reference-Cited by-同舟云学术

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Altered Inhibition of Cx26 Hemichannels by pH and Zn2+ in the A40V Mutation Associated with Keratitis-Ichthyosis-Deafness Syndrome

Published:2014-08 Issue:31 Volume:289 Page:21519-21532
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Sanchez Helmuth A.,Bienkowski Rick,Slavi Nefeli,Srinivas Miduturu,Verselis Vytas K.

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference48 articles.

1. Connexin-26 mutations in deafness and skin disease;Lee;Expert Rev. Mol. Med,2009

2. Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-deafness syndrome;Levit;Biochim. Biophys. Acta,2012

3. The role of connexins in ear and skin physiology: functional insights from disease-associated mutations;Xu;Biochim. Biophys. Acta,2013

4. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome;Mese;Mol. Biol. Cell,2011

5. Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome;Sánchez;J. Gen. Physiol,2010

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1. Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice;eBioMedicine;2023-03

2. Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia;American Journal of Medical Genetics Part A;2022-10-26

3. Cellular mechanisms of connexin-based inherited diseases;Trends in Cell Biology;2022-01

4. Cryo-EM structure of an open conformation of a gap junction hemichannel in lipid bilayer nanodiscs;Structure;2021-09

5. Astroglial Connexins in Neurodegenerative Diseases;Frontiers in Molecular Neuroscience;2021-05-28

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