The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.
AuthorsSanchez HA, Villone K, Srinivas M, Verselis VK,
Journal
PubMed ID23797419
'Mutations in the GJB2 gene, which encodes Cx26, are the most common cause of sensorineural deafness. In syndromic cases, such as keratitis-ichthyosis-deafness (KID) syndrome, in which deafness is accompanied by corneal inflammation and hyperkeratotic skin, aberrant hemichannel function has emerged as the leading contributing factor. We found that D50N, the ... More
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
AuthorsTeubner B, Michel V, Pesch J, Lautermann J, Cohen-Salmon M, Söhl G, Jahnke K, Winterhager E, Herberhold C, Hardelin JP, Petit C, Willecke K,
JournalHum Mol Genet
PubMed ID12490528
'The gap junction protein connexin30 (Cx30) is expressed in a variety of tissues that include epithelial and mesenchymal structures of the inner ear. We generated Cx30 (Gjb6) deficient mice by deletion of the Cx30 coding region. Homozygous mutants (Cx30((-/-))) were born at the expected Mendelian frequency, developed normally and were ... More
Exocrine specific expression of Connexin32 is dependent on the basic helix-loop-helix transcription factor Mist1.
'Gap junctions are intercellular channels that provide direct passage of small molecules between adjacent cells. In pancreatic acini, the connexin26 (Cx26) and connexin32 (Cx32) proteins form functional channels that coordinate the secretion of digestive enzymes. Although the function of Cx26/Cx32 gap junctions are well characterized, the regulatory circuits that control ... More
Connexin26 in adult rodent central nervous system: demonstration at astrocytic gap junctions and colocalization with connexin30 and connexin43.
AuthorsNagy JI, Li X, Rempel J, Stelmack G, Patel D, Staines WA, Yasumura T, Rash JE,
JournalJ Comp Neurol
PubMed ID11745652
The connexin family of proteins (Cx) that form intercellular gap junctions in vertebrates is well represented in the mammalian central nervous system. Among these, Cx30 and Cx43 are present in gap junctions of astrocytes. Cx32 is expressed by oligodendrocytes and is present in heterologous gap junctions between oligodendrocytes and astrocytes ... More
Localization of connexin26 and connexin32 in putative CO(2)-chemosensitive brainstem regions in rat.
Recent studies have suggested that cell-to-cell coupling, which occurs via gap junctions, may play a role in CO(2) chemoreception. Here, we used immunoblot and immunohistochemical analyses to investigate the presence, distribution, and cellular localization of the gap junction proteins connexin26 (Cx26) and connexin32 (Cx32) in putative CO(2)-chemosensitive brainstem regions in ... More
Limited intravascular coupling in the rodent brainstem and retina supports a role for glia in regional blood flow.
AuthorsKuo IY, Chan-Ling T, Wojcikiewicz RJ, Hill CE
JournalJ Comp Neurol
PubMed ID18925566
Regional synaptic activity induces local increases in perfusion that are coupled to upstream vasodilation and improved blood flow. In the cerebral circulation, it has been proposed that astrocytes mediate the link between the initiating stimulus and local vasodilation through propagated intracellular calcium waves. In the systemic circulation the mechanism by ... More