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Severe neuropathy with leaky connexin32 hemichannels
Annals of Neurology, 2005AbstractX‐linked Charcot‐Marie‐Tooth disease is one of a set of diseases caused by mutations in gap junction proteins called connexins. We identified a connexin32 missense mutation (F235C) in a girl with unusually severe neuropathy. The localization and trafficking of the mutant protein in cell culture was normal, but electrophysiological studies ...
Grace S Lin, Liang +7 more
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Connexin Hemichannel Inhibition and Human Genodermatoses
Journal of Investigative DermatologyPathogenic variants in genes encoding connexins that cause skin diseases, such as keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (HED) or Clouston syndrome, display increased hemichannel activity. Mechanistic insights derived from biophysical studies of the variant connexins support the hypothesis that inhibition of the ...
Fabio Mammano +2 more
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Physiological Functions of Glial Cell Hemichannels
2016The brain performs exceptionally complex and dynamic tasks that depend on the coordinated interaction of neurons, glial cells, endothelial cells, pericytes, smooth muscle cells, ependymal cells, and circulating blood cells. Among these cells, glial cells have emerged as crucial protagonists in the regulation of synaptic transmission and neural function.
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Over-activated hemichannels: A possible therapeutic target for human diseases
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2021Mauricio A Retamal, Jimmy Stehberg
exaly
Mechanism of gating by calcium in connexin hemichannels
Proceedings of the National Academy of Sciences of the United States of America, 2016William Lopez +2 more
exaly