| First Author | Mones S | Year | 2012 |
| Journal | Glia | Volume | 60 |
| Issue | 3 | Pages | 457-64 |
| PubMed ID | 22131286 | Mgi Jnum | J:211917 |
| Mgi Id | MGI:5576874 | Doi | 10.1002/glia.22279 |
| Citation | Mones S, et al. (2012) Connexin 32 is involved in mitosis. Glia 60(3):457-64 |
| abstractText | The X-linked form of Charcot-Marie-Tooth disorder (CMTX) is the second most frequent type (15% of CMT forms). It involves the GJB1 gene coding for connexin 32, a protein involved in gap junction formation and function. There is no curative treatment for CMTX. We present data on transgenic lines that was accomplished by inserting a human BAC carrying the GJB1 gene, in which two different mutations in connexin 32 (Cx32) observed in patients were introduced. Investigation of these models implicated Cx32 in the control of mitotic stability. The model in which Gjb1 has been invalidated had the same phenotype. This new function for Cx32 was recently confirmed by results from the Mitocheck program. Locomotor impediment was seen in the behavior of these animals, the severity of which correlated with transgene copy number and RNA expression. |
