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Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2
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Meigh, Louise, Hussain, Naveed, Mulkey, Daniel K. and Dale, Nicholas (2014) Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. eLife, Volume 3 . Article number e04249. doi:10.7554/eLife.04249 ISSN 2050-084X.
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Official URL: http://dx.doi.org/10.7554/eLife.04249
Abstract
Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO2 (Meigh et al., 2013). However the effects of human disease-causing mutations on the CO2 sensitivity of Cx26 are entirely unknown. Here, we report the first connection between the CO2 sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO2 insensitive and associated with disordered breathing in humans.
Item Type: | Journal Article | ||||
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Subjects: | R Medicine > RC Internal medicine | ||||
Divisions: | Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) | ||||
Library of Congress Subject Headings (LCSH): | Cornea -- Diseases, Deafness -- Genetic aspects, Carbon dioxide -- Physiological effect | ||||
Journal or Publication Title: | eLife | ||||
Publisher: | eLife sciences publications ltd. | ||||
ISSN: | 2050-084X | ||||
Official Date: | 24 November 2014 | ||||
Dates: |
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Volume: | Volume 3 | ||||
Number of Pages: | 7 | ||||
Article Number: | Article number e04249 | ||||
DOI: | 10.7554/eLife.04249 | ||||
Status: | Peer Reviewed | ||||
Publication Status: | Published | ||||
Access rights to Published version: | Open Access (Creative Commons) | ||||
Date of first compliant deposit: | 28 December 2015 | ||||
Date of first compliant Open Access: | 28 December 2015 | ||||
Funder: | Medical Research Council (Great Britain) (MRC) | ||||
Grant number: | G1001259 (MRC) |
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