PMID- 12460545
OWN - NLM
STAT- MEDLINE
DCOM- 20030123
LR  - 20231213
IS  - 0969-9961 (Print)
IS  - 0969-9961 (Linking)
VI  - 11
IP  - 1
DP  - 2002 Oct
TI  - Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
PG  - 43-52
AB  - Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), 
      cause X-linked Charcot-Marie-Tooth disease (CMTX). We compared the localization 
      of CMTX mutants that affect different domains of Cx32, by expressing them in HeLa 
      cells. Mutants were localized to the endoplasmic reticulum (M34K, N205I, and 
      Y211x), in the Golgi apparatus without reaching the cell membrane (M34T, V38M, 
      A40V, R75Q, R75P, R75W, and C217x), in the Golgi apparatus but also forming rare 
      small gap junction-like plaques (M34I, M34V, and V37M), or mainly on the cell 
      membrane, forming gap junction-like plaques (V35M, I213V, R219C, R219H, R220G, 
      R230C, R230L, R238H, L239I, and S281x). Selected mutants expressed in cultured 
      rat Schwann cells showed localization similar to that in HeLa cells. Thus, many 
      CMTX mutants have trafficking abnormalities, whereas the carboxy-terminus mutants 
      reach the cell membrane and probably cause disease through other mechanisms.
FAU - Yum, Sabrina W
AU  - Yum SW
AD  - Division of Neurology, St. Christopher's Hospital for Children, MCP--Hahnemann 
      University, Philadelphia, Pennsylvania 19134, USA.
FAU - Kleopa, Kleopas A
AU  - Kleopa KA
FAU - Shumas, Susan
AU  - Shumas S
FAU - Scherer, Steven S
AU  - Scherer SS
LA  - eng
GR  - NS42878/NS/NINDS NIH HHS/United States
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  - Neurobiol Dis
JT  - Neurobiology of disease
JID - 9500169
RN  - 0 (Connexins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Charcot-Marie-Tooth Disease/genetics/*metabolism
MH  - Connexins/chemistry/*genetics
MH  - Gap Junctions/metabolism
MH  - HeLa Cells
MH  - Humans
MH  - Molecular Sequence Data
MH  - Mutation, Missense
MH  - Neurons/cytology/*metabolism
MH  - Protein Structure, Tertiary
MH  - Protein Transport/physiology
MH  - Rats
MH  - Schwann Cells/cytology/metabolism
MH  - Sciatic Nerve/cytology
MH  - *X Chromosome
MH  - Gap Junction beta-1 Protein
EDAT- 2002/12/04 04:00
MHDA- 2003/01/24 04:00
CRDT- 2002/12/04 04:00
PHST- 2002/12/04 04:00 [pubmed]
PHST- 2003/01/24 04:00 [medline]
PHST- 2002/12/04 04:00 [entrez]
AID - S0969996102905450 [pii]
AID - 10.1006/nbdi.2002.0545 [doi]
PST - ppublish
SO  - Neurobiol Dis. 2002 Oct;11(1):43-52. doi: 10.1006/nbdi.2002.0545.