New functions for gap junctions.
The most significant finding of the past year in gap junction research has been the association of connexin defects with human diseases. Connexin32 mutations cause X-linked Charcot-Marie-Tooth disease, a demyelinating peripheral neuropathy. Mutations in connexin43 may underlie cardiac malformations in visceroatrial heterotaxia syndromes. Genetic approaches and gene targeting have provided new insights, but also raise new questions concerning connexin function, the significance of connexin diversity and the regulation of intercellular communication.
Paul
D L
DL
Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
D000818:Animals; D002455:Cell Division / Q000235:genetics / Q000502:physiology; D017630:Connexins / Q000235:genetics / Q000502:physiology*; D005314:Embryonic and Fetal Development / Q000235:genetics / Q000502:physiology; D017629:Gap Junctions / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation
D017630:Connexins