Article
Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.
Human molecular genetics - 1 Jan 2018
Carrer Andrea, Leparulo Alessandro, Crispino Giulia, Ciubotaru Catalin Dacian, Marin Oriano, Zonta Francesco, Bortolozzi Mario
Abstract excerpt
Mutations of the GJB1 gene encoding connexin 32 (Cx32) cause the X-linked form of Charcot-Marie-Tooth disease (CMTX1), a demyelinating peripheral neuropathy for which there is no cure. A growing body of evidence indicates that ATP release through Cx32 hemichannels in Schwann cells could be critical for nerve myelination, but it is unknown if CMTX1 mutations alter the cytosolic Ca2+-dependent gating mechanism that...
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