PMID- 16790356
OWN - NLM
STAT- MEDLINE
DCOM- 20060915
LR  - 20231213
IS  - 1044-7431 (Print)
IS  - 1044-7431 (Linking)
VI  - 32
IP  - 3
DP  - 2006 Jul
TI  - The effects of a dominant connexin32 mutant in myelinating Schwann cells.
PG  - 283-98
AB  - Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), 
      cause X-linked Charcot-Marie-Tooth disease, an inherited demyelinating peripheral 
      neuropathy. We generated transgenic mice that express the R142W mutation in 
      myelinating Schwann cells. The R142W mutant protein was aberrantly localized to 
      the Golgi, indicating that it does not traffic properly, but the molecular 
      organization of the myelin sheath, including the localization of Cx29, another 
      connexin expressed by myelinating Schwann cells, was not disrupted. In a wild 
      type background, this mutation dramatically decreased the level of wild type 
      mouse Cx32 in immunoblots of sciatic nerve and caused demyelination. The 
      expression of wild type human Cx32 with the same transgenic construct had 
      different effects-increased amounts of Cx32, normal localization of Cx32 at nodes 
      and incisures, and split myelin sheaths. Thus, the R142W mutant protein has 
      dominant effects that are distinct from overexpression.
FAU - Jeng, Linda Jo Bone
AU  - Jeng LJ
AD  - Cell and Molecular Biology Graduate Group, The University of Pennsylvania Medical 
      Center, Philadelphia, PA 19104-6077, USA.
FAU - Balice-Gordon, Rita J
AU  - Balice-Gordon RJ
FAU - Messing, Albee
AU  - Messing A
FAU - Fischbeck, Kenneth H
AU  - Fischbeck KH
FAU - Scherer, Steven S
AU  - Scherer SS
LA  - eng
GR  - R01 NS08075/NS/NINDS NIH HHS/United States
GR  - R01 NS42878/NS/NINDS NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20060621
PL  - United States
TA  - Mol Cell Neurosci
JT  - Molecular and cellular neurosciences
JID - 9100095
RN  - 0 (Connexins)
SB  - IM
MH  - Animals
MH  - Connexins/biosynthesis/genetics/*physiology
MH  - Female
MH  - Genes, Dominant/*physiology
MH  - Humans
MH  - Male
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Mice, Knockout
MH  - Mice, Transgenic
MH  - *Mutation
MH  - Myelin Sheath/*genetics/*metabolism/pathology
MH  - Rats
MH  - Schwann Cells/*metabolism/pathology
MH  - Gap Junction beta-1 Protein
EDAT- 2006/06/23 09:00
MHDA- 2006/09/16 09:00
CRDT- 2006/06/23 09:00
PHST- 2005/12/20 00:00 [received]
PHST- 2006/04/25 00:00 [revised]
PHST- 2006/05/01 00:00 [accepted]
PHST- 2006/06/23 09:00 [pubmed]
PHST- 2006/09/16 09:00 [medline]
PHST- 2006/06/23 09:00 [entrez]
AID - S1044-7431(06)00083-2 [pii]
AID - 10.1016/j.mcn.2006.05.001 [doi]
PST - ppublish
SO  - Mol Cell Neurosci. 2006 Jul;32(3):283-98. doi: 10.1016/j.mcn.2006.05.001. Epub 
      2006 Jun 21.