Exploring the binding sites of VRT534 at Cx26 as a putative chemical chaperone for targeted treatment of hereditary hearing disorders [PDF]
Frontiers in MedicineHearing loss is the most common sensory disorder, significantly affecting the quality of life for millions of people worldwide. Chemical chaperones are emerging as a potential therapeutic option for hereditary forms of deafness associated with protein ...
Jennifer Harre +5 more
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The physiological role of TRP channels in sleep and circadian rhythm. [PDF]
J Cell Mol MedAbstract TRP channels, are non‐specific cationic channels that are involved in multiple physiological processes that include salivation, cellular secretions, memory extinction and consolidation, temperature, pain, store‐operated calcium entry, thermosensation and functionality of the nervous system.
Woodard GE, Rosado JA, Li H.
europepmc +2 more sources
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2 [PDF]
eLife, 2014 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).
Louise Meigh +3 more
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Rational design of new NO and redox sensitivity into connexin26 hemichannels [PDF]
Open Biology, 2015 CO2 directly opens hemichannels of connexin26 (Cx26) by carbamylating K125, thereby allowing salt bridge formation with R104 of the neighbouring subunit in the connexin hexamer.
Louise Meigh +3 more
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Clinical significance of the expression of connexin26 in colorectal cancer
Journal of Experimental & Clinical Cancer Research, 2010 Background Connexin26 (Cx26) is one of the connexins (Cxs) family members which form gap junction channels. Cx26 is considered to be a tumor suppressor gene.
Nagahara Hisashi +6 more
doaj +2 more sources
Porokeratotic adnexal ostial nevus: A paradigm of cutaneous mosaicism. [PDF]
Clin Case Rep, 2022 Porokeratotic adnexal ostial nevus (PAON) encompasses porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus. Somatic mutations in GJB2 have been identified as causative in PAON, representing a mosaic form of keratosis ichthyosis deafness (KID) syndrome. Abstract Porokeratotic adnexal ostial nevus (PAON) is
Kiely L +4 more
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BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice. [PDF]
PLoS ONE, 2011 The deafness locus DFNB1 contains GJB2, the gene encoding connexin26 and GJB6, encoding connexin30, which appear to be coordinately regulated in the inner ear.
Giulia Crispino +10 more
doaj +2 more sources
Distinct Connexin43, Connexin31, and Pannexin1 expression patterns in the cochlea of a non-human primate [PDF]
Scientific ReportsMembrane channels play an important role in auditory processes. Connexins and pannexins are membrane channels that exist in the cochlea. Connexin26 and connexin30 have been previously shown to be differentially expressed in the developing cochlea of ...
Makoto Hosoya +6 more
doaj +2 more sources
Neurobiology of Disease, 2015 Mutations in the Gjb2 gene, which encodes a gap junction protein connexin26 (Cx26), are the most prevalent form of hereditary deafness in humans and represent about half of non-syndromic congenital deafness cases in many ethnic populations.
Wenxue Tang, Yeunjung Kim, Xi Lin
exaly +3 more sources
Multiple carbamylation events are required for differential modulation of Cx26 hemichannels and gap junctions by CO<sub>2</sub>. [PDF]
J PhysiolAbstract figure legend Cx26 hemichannels and gap junction channels are differentially modulated by two carbamylation events on K125 and K108. Hemichannels at low PCO2${P}_{{\text{CO}}_{2}}$ are ordinarily closed. When PCO2${P}_{{\text{CO}}_{2}}$ rises sufficiently, both K125 and K108 can become carbamylated.
Nijjar S +8 more
europepmc +2 more sources