| http://purl.uniprot.org/citations/15703409 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15703409 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in Gap Junction beta1 (GJB1), the gene encoding the gap junction protein connexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neuropathy. We investigated the possibility that the expression of mutant Cx32 in other cells besides myelinating Schwann cells contributes to the development of demyelination. Human Cx32 was expressed in transgenic mice using a rat myelin protein zero (Mpz) promoter, which is exclusively expressed by myelinating Schwann cells. Male mice expressing the human transgene were crossed with female Gjb1/cx32-null mice; the resulting male offspring were all cx32-null (on the X chromosome), and one-half were transgene positive. In these transgenic mice, all of the Cx32 was derived from the expression of the transgene and was found in the sciatic nerve but not in the spinal cord or the liver. Furthermore, the Cx32 protein was properly localized (within incisures and paranodes) in myelinating Schwann cells. Finally, the expression of human Cx32 protein "rescued" the phenotype of cx32-null mice, because the transgenic mice have significantly fewer demyelinated or remyelinated axons than their nontransgenic littermates. These results indicate that the loss of Schwann-cell-autonomous expression of Cx32 is sufficient to account for demyelination in CMT1X."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.org/dc/terms/identifier | "doi:10.1523/jneurosci.3082-04.2005"xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/author | "Fischbeck K.H."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/author | "Scherer S.S."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/author | "Xu Y.T."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/author | "Willecke K."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/author | "Jeng L.J."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/author | "Messing A."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/name | "J Neurosci"xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/pages | "1550-1559"xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/title | "Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice."xsd:string |
| http://purl.uniprot.org/citations/15703409 | http://purl.uniprot.org/core/volume | "25"xsd:string |
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