PMID- 16442804
OWN - NLM
STAT- MEDLINE
DCOM- 20060428
LR  - 20231213
IS  - 0969-9961 (Print)
IS  - 0969-9961 (Linking)
VI  - 21
IP  - 3
DP  - 2006 Mar
TI  - Selective defects in channel permeability associated with Cx32 mutations causing 
      X-linked Charcot-Marie-Tooth disease.
PG  - 607-17
AB  - 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, Delta111-116 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.
FAU - Bicego, Massimiliano
AU  - Bicego M
AD  - Dipartimento di Biochimica, Biofisica e Chimica delle Macromolecole, University 
      of Trieste, via Licio Giorgieri 1, 34127 Trieste, Italy.
FAU - Morassutto, Sabina
AU  - Morassutto S
FAU - Hernandez, Victor H
AU  - Hernandez VH
FAU - Morgutti, Marcello
AU  - Morgutti M
FAU - Mammano, Fabio
AU  - Mammano F
FAU - D'Andrea, Paola
AU  - D'Andrea P
FAU - Bruzzone, Roberto
AU  - Bruzzone R
LA  - eng
GR  - GGP05131/TI_/Telethon/Italy
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060125
PL  - United States
TA  - Neurobiol Dis
JT  - Neurobiology of disease
JID - 9500169
RN  - 0 (Connexins)
RN  - 0 (Ion Channels)
SB  - IM
MH  - Blotting, Western
MH  - Charcot-Marie-Tooth Disease/genetics/*metabolism
MH  - Connexins/*genetics
MH  - Genetic Diseases, X-Linked/genetics/*metabolism
MH  - HeLa Cells
MH  - Humans
MH  - Ion Channels/*metabolism
MH  - Microscopy, Fluorescence
MH  - Mutation
MH  - Patch-Clamp Techniques
MH  - Permeability
MH  - Transfection
MH  - Gap Junction beta-1 Protein
EDAT- 2006/01/31 09:00
MHDA- 2006/04/29 09:00
CRDT- 2006/01/31 09:00
PHST- 2005/03/12 00:00 [received]
PHST- 2005/09/04 00:00 [revised]
PHST- 2005/09/09 00:00 [accepted]
PHST- 2006/01/31 09:00 [pubmed]
PHST- 2006/04/29 09:00 [medline]
PHST- 2006/01/31 09:00 [entrez]
AID - S0969-9961(05)00248-2 [pii]
AID - 10.1016/j.nbd.2005.09.005 [doi]
PST - ppublish
SO  - Neurobiol Dis. 2006 Mar;21(3):607-17. doi: 10.1016/j.nbd.2005.09.005. Epub 2006 
      Jan 25.