PMID- 9364054
OWN - NLM
STAT- MEDLINE
DCOM- 19971215
LR  - 20231213
IS  - 0270-6474 (Print)
IS  - 1529-2401 (Electronic)
IS  - 0270-6474 (Linking)
VI  - 17
IP  - 23
DP  - 1997 Dec 1
TI  - Altered trafficking of mutant connexin32.
PG  - 9077-84
AB  - We examined the cellular localization of nine different connexin32 (Cx32) mutants 
      associated with X-linked Charcot-Marie-Tooth disease (CMTX) in 
      communication-incompetent mammalian cells. Cx32 mRNA was made, but little or no 
      protein was detected in one class of mutants. In another class of mutants, Cx32 
      protein was detectable in the cytoplasm and at the cell surface, where it 
      appeared as plaques and punctate staining. Cx32 immunoreactivity in a third class 
      of mutants was restricted to the cytoplasm, where it often colocalized with the 
      Golgi apparatus. Our studies suggest that CMTX mutations have a predominant 
      effect on the trafficking of Cx32 protein, resulting in a potentially toxic 
      cytoplasmic accumulation of Cx32 in these cells. These results and evidence of 
      cytoplasmic accumulation of other mutated myelin proteins suggest that diseases 
      affecting myelinating cells may share a common pathophysiology.
FAU - Deschenes, S M
AU  - Deschenes SM
AD  - Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, 
      Pennsylvania 19104, USA.
FAU - Walcott, J L
AU  - Walcott JL
FAU - Wexler, T L
AU  - Wexler TL
FAU - Scherer, S S
AU  - Scherer SS
FAU - Fischbeck, K H
AU  - Fischbeck KH
LA  - eng
GR  - NS08075/NS/NINDS NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Neurosci
JT  - The Journal of neuroscience : the official journal of the Society for 
      Neuroscience
JID - 8102140
RN  - 0 (Connexins)
RN  - 0 (Recombinant Fusion Proteins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Biological Transport
MH  - Cells, Cultured
MH  - Charcot-Marie-Tooth Disease/genetics/*metabolism
MH  - Connexins/genetics/*metabolism
MH  - Cytoplasm/metabolism
MH  - Gene Expression Regulation
MH  - Golgi Apparatus/metabolism
MH  - Humans
MH  - Molecular Sequence Data
MH  - Phenotype
MH  - Point Mutation
MH  - Recombinant Fusion Proteins/metabolism
MH  - Sequence Deletion
MH  - Gap Junction beta-1 Protein
PMC - PMC6573613
EDAT- 1997/12/31 00:00
MHDA- 1997/12/31 00:01
PMCR- 1998/06/01
CRDT- 1997/12/31 00:00
PHST- 1997/12/31 00:00 [pubmed]
PHST- 1997/12/31 00:01 [medline]
PHST- 1997/12/31 00:00 [entrez]
PHST- 1998/06/01 00:00 [pmc-release]
AID - 10.1523/JNEUROSCI.17-23-09077.1997 [doi]
PST - ppublish
SO  - J Neurosci. 1997 Dec 1;17(23):9077-84. doi: 10.1523/JNEUROSCI.17-23-09077.1997.