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Article: Null mutations of connexin32 in patients with X-linked Charcot-Marie- Tooth disease

TitleNull mutations of connexin32 in patients with X-linked Charcot-Marie- Tooth disease
Authors
KeywordsChemicals And Cas Registry Numbers
Issue Date1994
PublisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/neuron
Citation
Neuron, 1994, v. 13 n. 5, p. 1253-1260 How to Cite?
AbstractThe X-linked form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32, a member of the family of proteins forming intercellular channels. We have compared the functional properties of three mutant connexin32 genes with those of the wild-type gene by testing their ability to form intercellular channels in the paired oocyte expression system. Whereas wild-type connexin32 induced the development of large junctional conductance between paired oocytes, no functional channels were detected between pairs expressing CMTX mutants. Furthermore, CMTX mutants selectively acted as dominant inhibitors of intercellular communication by interfering with the channel-forming ability of connexin26 but not with that of connexin40. These results demonstrate a functional loss in the product of a candidate gene for a demyelinating form of CMT.
Persistent Identifierhttp://hdl.handle.net/10722/132758
ISSN
2015 Impact Factor: 13.974
2015 SCImago Journal Rankings: 11.464
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorBruzzone, Ren_HK
dc.contributor.authorWhite, TWen_HK
dc.contributor.authorScherer, SSen_HK
dc.contributor.authorFischbeck, KHen_HK
dc.contributor.authorPaul, DLen_HK
dc.date.accessioned2011-03-28T09:28:47Z-
dc.date.available2011-03-28T09:28:47Z-
dc.date.issued1994en_HK
dc.identifier.citationNeuron, 1994, v. 13 n. 5, p. 1253-1260en_HK
dc.identifier.issn0896-6273en_HK
dc.identifier.urihttp://hdl.handle.net/10722/132758-
dc.description.abstractThe X-linked form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32, a member of the family of proteins forming intercellular channels. We have compared the functional properties of three mutant connexin32 genes with those of the wild-type gene by testing their ability to form intercellular channels in the paired oocyte expression system. Whereas wild-type connexin32 induced the development of large junctional conductance between paired oocytes, no functional channels were detected between pairs expressing CMTX mutants. Furthermore, CMTX mutants selectively acted as dominant inhibitors of intercellular communication by interfering with the channel-forming ability of connexin26 but not with that of connexin40. These results demonstrate a functional loss in the product of a candidate gene for a demyelinating form of CMT.en_HK
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/neuronen_HK
dc.relation.ispartofNeuronen_HK
dc.subjectChemicals And Cas Registry Numbersen_US
dc.titleNull mutations of connexin32 in patients with X-linked Charcot-Marie- Tooth diseaseen_HK
dc.typeArticleen_HK
dc.identifier.emailBruzzone, R: bruzzone@hkucc.hku.hken_HK
dc.identifier.authorityBruzzone, R=rp01442en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/0896-6273(94)90063-9en_HK
dc.identifier.pmid7946361-
dc.identifier.scopuseid_2-s2.0-0028018967en_HK
dc.identifier.volume13en_HK
dc.identifier.issue5en_HK
dc.identifier.spage1253en_HK
dc.identifier.epage1260en_HK
dc.identifier.isiWOS:A1994PU76300021-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridBruzzone, R=7006793327en_HK
dc.identifier.scopusauthoridWhite, TW=35499703300en_HK
dc.identifier.scopusauthoridScherer, SS=35374654500en_HK
dc.identifier.scopusauthoridFischbeck, KH=7004500500en_HK
dc.identifier.scopusauthoridPaul, DL=7401667165en_HK

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