Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

Eitemau Tebyg

• Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease
  gan: Abrams, Charles K., et al.
  Cyhoeddwyd: (2001)
• Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease
  gan: Abrams, C. K., et al.
  Cyhoeddwyd: (2002)
• Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness
  gan: Abrams, Charles K., et al.
  Cyhoeddwyd: (2006)
• Stoichiometry of Transjunctional Voltage–Gating Polarity Reversal by a Negative Charge Substitution in the Amino Terminus of a Connexin32 Chimera
  gan: Oh, Seunghoon, et al.
  Cyhoeddwyd: (2000)
• Gene therapy to promote regeneration in Charcot-Marie-Tooth disease
  gan: Sahenk, Zarife, et al.
  Cyhoeddwyd: (2019)