Human Disease-linked Connexin Mutant

We are interested in delineating how gap junction mutants causing human diseases, including atrial fibrillation linked mutants in GJA5 (Cx40), ODDD-linked mutation in GJA1 (Cx43), PMLD-linked Cx47 mutants and skin disease-linked mutations in genes encoding Cx30 and Cx26. We study the mechanisms on how these mutants leading to loss or gain of function in their gap junction channels, hemichannels, and/or other functions.

Related Publications

  1. Sun, Y., M.D. Hills, Ye, W.G., X. Tong and Bai, D.* (2014) Atrial fibrillation-linked connexin40 mutants increase hemichannel activities. PLoS ONE 9 (4) e95125 [link to PubMed]
  2. Sun, Y., X. Tong, H. Chen, T. Huang; Q. Shao; W. Huang, D.W. Laird and Bai, D.* (2014) An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels. Dis Model Mech 7, 561-569 [link to PubMed]
  3. Bai, D.* (2014) Atrial fibrillation-linked GJA5/connexin40 mutants impair gap junctions via different mechanisms. FEBS Lett 588, 1238-1243 [link to PubMed]
  4. Kim, M.S. Gloor, G.B. and Bai, D.* (2013) The distribution and functional properties of Pelizaeus Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions. Biochem J 452, 249-258 [link to PubMed]
  5. Sun, Y., Yang, Y.Q., Gong, X.Q., Wang, X.H., Li, R.G., Tan, H.W., Fang, W.Y. and Bai, D.* (2013) Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication. Hum Mutat 34, 603-609 [link to PubMed]
  6. Manias, J.L., Plante, I., Gong, X.Q., Shao, Q., Churko, J., Bai, D., and Laird, D.W. (2008). Fate of connexin43 in cardiac tissue harbouring a disease-linked connexin43 mutant. Cardiovasc Res 80, 385-395. [link to PubMed]
  7. Gong, X.Q., Shao, Q., Langlois, S., Bai, D.*, and Laird, D.W. (2007). Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia. J Biol Chem 282, 19190-19202 [link to PubMed]
  8. Gollob, M.H., Jones, D.L., Krahn, A.D., Danis, L., Gong, X.Q., Shao, Q., Liu, X., Veinot, J.P., Tang, A.S., Stewart, A.F., Tesson, F., Klein, G.J., Yee, R., Skanes, A.C., Guiraudon, G.M., Ebihara, L., and Bai, D. (2006). Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med 354, 2677-2688. [link to PubMed]