Article
Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.
Molecular biology of the cell - 1 Jun 1996
Omori Y, Mesnil M, Yamasaki H
Abstract excerpt
We have characterized the function of connexin (Cx) 32 gene mutations found in X-linked dominant Charcot-Marie-Tooth disease with respect to their ability to form functional gap junctions among themselves and to inactivate wild-type Cx32 by a dominant negative mechanism. We prepared four types of Cx32 mutant cDNAs and transfected them into HeLa cells, which do not show detectable levels of gap junctional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.