File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease

TitleConnexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease
Authors
KeywordsChannel
Charcot-Marie- Tooth
Gap junction
Mutation
Myelin
Neuropathy
PNS
Schwann cell
Xenopus oocyte
Issue Date2000
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/brainresrev
Citation
Brain Research Reviews, 2000, v. 32 n. 1, p. 192-202 How to Cite?
AbstractCharcot-Marie-Tooth disease comprises a group of genetically heterogenous disorders of the peripheral nervous system. The X-linked form of Charcot-Marie-Tooth (CMTX) is associated with mutations in the gene encoding the gap junction protein connexin32 (Cx32), which is expressed in Schwann cells. Immunocytochemical evidence suggests that Cx32 is localized to the incisures of Schmidt-Lanterman and the paranodes of myelinating Schwann cells, where it appears to form reflexive gap junctions. It is currently thought that this cytoplasmic continuity provides a much shorter diffusion pathway for the transport of ions, metabolites and second messenger molecules through intracellular channels between the adaxonal and peri-nuclear regions of Schwann cells, across the myelin sheath. This review summarizes our current understanding of the role of connexins in Schwann cells and focuses on the lessons for channel function and disease pathophysiology derived from the functional analysis of Cx32 mutations. One of the most intriguing aspects emerging from this work is that several mutations retain functional competence, although the mutated channels exhibit altered gating properties. This suggests that partial and/or selective disruption of the radial communication pathway formed by Cx32 is sufficient to cause a functional deficit and lead to the development of CMTX. The next challenge will be to define, at the molecular level, the sequence of events involved in the disease process. The presence of a group of functional mutations should help understand the cellular basis of CMTX, by allowing the identification of the specific molecules that need to be exchanged through Cx32 channels, but are excluded from the mutated ones. (C) 2000 Elsevier Science B.V.
Persistent Identifierhttp://hdl.handle.net/10722/132725
ISSN
2013 Impact Factor: 5.93
2014 SCImago Journal Rankings: 2.982
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorRessot, Cen_HK
dc.contributor.authorBruzzone, Ren_HK
dc.date.accessioned2011-03-28T09:28:34Z-
dc.date.available2011-03-28T09:28:34Z-
dc.date.issued2000en_HK
dc.identifier.citationBrain Research Reviews, 2000, v. 32 n. 1, p. 192-202en_HK
dc.identifier.issn0165-0173en_HK
dc.identifier.urihttp://hdl.handle.net/10722/132725-
dc.description.abstractCharcot-Marie-Tooth disease comprises a group of genetically heterogenous disorders of the peripheral nervous system. The X-linked form of Charcot-Marie-Tooth (CMTX) is associated with mutations in the gene encoding the gap junction protein connexin32 (Cx32), which is expressed in Schwann cells. Immunocytochemical evidence suggests that Cx32 is localized to the incisures of Schmidt-Lanterman and the paranodes of myelinating Schwann cells, where it appears to form reflexive gap junctions. It is currently thought that this cytoplasmic continuity provides a much shorter diffusion pathway for the transport of ions, metabolites and second messenger molecules through intracellular channels between the adaxonal and peri-nuclear regions of Schwann cells, across the myelin sheath. This review summarizes our current understanding of the role of connexins in Schwann cells and focuses on the lessons for channel function and disease pathophysiology derived from the functional analysis of Cx32 mutations. One of the most intriguing aspects emerging from this work is that several mutations retain functional competence, although the mutated channels exhibit altered gating properties. This suggests that partial and/or selective disruption of the radial communication pathway formed by Cx32 is sufficient to cause a functional deficit and lead to the development of CMTX. The next challenge will be to define, at the molecular level, the sequence of events involved in the disease process. The presence of a group of functional mutations should help understand the cellular basis of CMTX, by allowing the identification of the specific molecules that need to be exchanged through Cx32 channels, but are excluded from the mutated ones. (C) 2000 Elsevier Science B.V.en_HK
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/brainresreven_HK
dc.relation.ispartofBrain Research Reviewsen_HK
dc.subjectChannelen_HK
dc.subjectCharcot-Marie- Toothen_HK
dc.subjectGap junctionen_HK
dc.subjectMutationen_HK
dc.subjectMyelinen_HK
dc.subjectNeuropathyen_HK
dc.subjectPNSen_HK
dc.subjectSchwann cellen_HK
dc.subjectXenopus oocyteen_HK
dc.titleConnexin channels in Schwann cells and the development of the X-linked form of 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/S0165-0173(99)00081-8en_HK
dc.identifier.pmid10751670-
dc.identifier.scopuseid_2-s2.0-0034070195en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034070195&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume32en_HK
dc.identifier.issue1en_HK
dc.identifier.spage192en_HK
dc.identifier.epage202en_HK
dc.identifier.isiWOS:000087131200025-
dc.publisher.placeNetherlandsen_HK
dc.identifier.scopusauthoridRessot, C=6603101410en_HK
dc.identifier.scopusauthoridBruzzone, R=7006793327en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats