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- Publisher Website: 10.1016/j.nbd.2005.09.005
- Scopus: eid_2-s2.0-33244478285
- PMID: 16442804
- WOS: WOS:000235899100016
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Article: Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease
Title | Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease |
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Authors | |
Keywords | Connexin Dye coupling Gap junction Genetic disease Human PNS |
Issue Date | 2006 |
Publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ynbdi |
Citation | Neurobiology Of Disease, 2006, v. 21 n. 3, p. 607-617 How to Cite? |
Abstract | The X-linked form of Charcot-Marie-Tooth disease (CMTX) is caused by mutations in connexin32 (Cx32), a gap junction protein expressed by Schwann cells where it forms reflexive channels that allow the passage of ions and signaling molecules across the myelin sheath. Although most mutations result in loss of function, several studies have reported that some retain the ability to form homotypic intercellular channels. To gain insight into the molecular defect of three functional CMTX variants, S26L, Δ111-116 and R220stop, we have used several fluorescent tracers of different size and ionic charge to compare their permeation properties to those of wild-type Cx32. Although all mutations allowed the passage of the dye with the smallest molecular mass, they exhibited a clear reduction in the permeability of either one or all of the probes with respect to wild-type channels, as assessed by the percentage of injections showing dye coupling. These data reveal that a lower size cutoff distinguishes these functional CMTX variants from wild-type channels and suggest that this defect may be of pathophysiological relevance. © 2005 Elsevier Inc. All rights reserved. |
Persistent Identifier | http://hdl.handle.net/10722/132693 |
ISSN | 2023 Impact Factor: 5.1 2023 SCImago Journal Rankings: 2.116 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Bicego, M | en_HK |
dc.contributor.author | Morassutto, S | en_HK |
dc.contributor.author | Hernandez, VH | en_HK |
dc.contributor.author | Morgutti, M | en_HK |
dc.contributor.author | Mammano, F | en_HK |
dc.contributor.author | D'Andrea, P | en_HK |
dc.contributor.author | Bruzzone, R | en_HK |
dc.date.accessioned | 2011-03-28T09:28:18Z | - |
dc.date.available | 2011-03-28T09:28:18Z | - |
dc.date.issued | 2006 | en_HK |
dc.identifier.citation | Neurobiology Of Disease, 2006, v. 21 n. 3, p. 607-617 | en_HK |
dc.identifier.issn | 0969-9961 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/132693 | - |
dc.description.abstract | The X-linked form of Charcot-Marie-Tooth disease (CMTX) is caused by mutations in connexin32 (Cx32), a gap junction protein expressed by Schwann cells where it forms reflexive channels that allow the passage of ions and signaling molecules across the myelin sheath. Although most mutations result in loss of function, several studies have reported that some retain the ability to form homotypic intercellular channels. To gain insight into the molecular defect of three functional CMTX variants, S26L, Δ111-116 and R220stop, we have used several fluorescent tracers of different size and ionic charge to compare their permeation properties to those of wild-type Cx32. Although all mutations allowed the passage of the dye with the smallest molecular mass, they exhibited a clear reduction in the permeability of either one or all of the probes with respect to wild-type channels, as assessed by the percentage of injections showing dye coupling. These data reveal that a lower size cutoff distinguishes these functional CMTX variants from wild-type channels and suggest that this defect may be of pathophysiological relevance. © 2005 Elsevier Inc. All rights reserved. | en_HK |
dc.language | eng | en_US |
dc.publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ynbdi | en_HK |
dc.relation.ispartof | Neurobiology of Disease | en_HK |
dc.subject | Connexin | en_HK |
dc.subject | Dye coupling | en_HK |
dc.subject | Gap junction | en_HK |
dc.subject | Genetic disease | en_HK |
dc.subject | Human | en_HK |
dc.subject | PNS | en_HK |
dc.title | Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease | en_HK |
dc.type | Article | en_HK |
dc.identifier.email | Bruzzone, R: bruzzone@hkucc.hku.hk | en_HK |
dc.identifier.authority | Bruzzone, R=rp01442 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1016/j.nbd.2005.09.005 | en_HK |
dc.identifier.pmid | 16442804 | - |
dc.identifier.scopus | eid_2-s2.0-33244478285 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-33244478285&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 21 | en_HK |
dc.identifier.issue | 3 | en_HK |
dc.identifier.spage | 607 | en_HK |
dc.identifier.epage | 617 | en_HK |
dc.identifier.isi | WOS:000235899100016 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Bicego, M=7004711890 | en_HK |
dc.identifier.scopusauthorid | Morassutto, S=12645523300 | en_HK |
dc.identifier.scopusauthorid | Hernandez, VH=12645138300 | en_HK |
dc.identifier.scopusauthorid | Morgutti, M=8905989600 | en_HK |
dc.identifier.scopusauthorid | Mammano, F=7006987421 | en_HK |
dc.identifier.scopusauthorid | D'Andrea, P=7005979859 | en_HK |
dc.identifier.scopusauthorid | Bruzzone, R=7006793327 | en_HK |
dc.identifier.issnl | 0969-9961 | - |