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Science 24 December 1993: Vol. 262. no. 5142, pp. 2039 - 2042 DOI: 10.1126/science.8266101
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Articles
Science, Vol 262, Issue 5142, 2039-2042
Copyright © 1993 by American Association for the Advancement of Science
Connexin mutations in X-linked Charcot-Marie-Tooth disease
J Bergoffen,
SS Scherer,
S Wang,
MO Scott,
LJ Bone,
DL Paul,
K Chen,
MW Lensch,
PF Chance,
and
KH Fischbeck
Department of Neurology, University of Pennsylvania Medical School, Children's Hospital of Philadelphia 19104.
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.
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- Altered Formation of Hemichannels and Gap Junction Channels Caused by C-Terminal Connexin-32 Mutations.
- C. Castro, J. M. Gomez-Hernandez, K. Silander, and L. C. Barrio (1999)
J. Neurosci.
19, 3752-3760
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- Rapid and Direct Effects of pH on Connexins Revealed by the Connexin46 Hemichannel Preparation.
- E. Brady Trexler, F. F. Bukauskas, M. V.L. Bennett, T. A. Bargiello, and V. K. Verselis (1999)
J. Gen. Physiol.
113, 721-742
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- Intracellular Trafficking Pathways in the Assembly of Connexins into Gap Junctions.
- C. H. George, J. M. Kendall, and W. H. Evans (1999)
J. Biol. Chem.
274, 8678-8685
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- Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q).
- T. Stojkovic, P. Latour, A. Vandenberghe, J. F. Hurtevent, and P. Vermersch (1999)
Neurology
52, 1010
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- Three-Dimensional Structure of a Recombinant Gap Junction Membrane Channel.
- V. M. Unger, N. M. Kumar, N. B. Gilula, and M. Yeager (1999)
Science
283, 1176-1180
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- Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
- M Bähr, F Andres, V Timmerman, M E Nelis, C Van Broeckhoven, and J Dichgans (1999)
J. Neurol. Neurosurg. Psychiatry
66, 202-206
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- Neurodegeneration in Multiple Sclerosis: Relationship to Neurological Disability.
- B. D. Trapp, R. M. Ransohoff, E. Fisher, and R. A. Rudick (1999)
Neuroscientist
5, 48-57
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- NEW PERSPECTIVES IN PEDIATRIC NEUROMUSCULAR DISORDERS Hotel Intercontinental Sydney, Sydney, Australia, August 28, 1998.
- K. North (1999)
J Child Neurol
14, 26-57
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- Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations.
- M. PANAS, C. KARADIMAS, D. AVRAMOPOULOS, and D. VASSILOPOULOS (1998)
J. Neurol. Neurosurg. Psychiatry
65, 947a-948
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- Connexin-Aequorin Chimerae Report Cytoplasmic Calcium Environments along Trafficking Pathways Leading to Gap Junction Biogenesis in Living COS-7 Cells.
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J. Biol. Chem.
273, 29822-29829
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- Functional Gap Junctions in the Schwann Cell Myelin Sheath.
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J. Cell Biol.
142, 1095-1104
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- A Particle-Receptor Model for the Insulin-Induced Closure of Connexin43 Channels.
- N. Homma, J. L. Alvarado, W. Coombs, K. Stergiopoulos, S. M. Taffet, A. F. Lau, and M. Delmar (1998)
Circ. Res.
83, 27-32
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- Axonal Swellings and Degeneration in Mice Lacking the Major Proteolipid of Myelin.
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Science
280, 1610-1613
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- Connexin32 Mutations Associated with X-Linked Charcot-Marie-Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties.
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J. Neurosci.
18, 4063-4075
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- Case 13-1998- A 23-Year-Old Man with Progressive Weakness and Paresthesias.
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N. Engl. J. Med.
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- Genetic aspects of Charcot-Marie-Tooth disease.
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Arch. Dis. Child.
78, 296-300
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- Heart Defects in Connexin43-Deficient Mice.
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Circ. Res.
82, 360-366
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- Isoform Composition of Connexin Channels Determines Selectivity among Second Messengers and Uncharged Molecules.
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J. Biol. Chem.
273, 2808-2816
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- Altered Trafficking of Mutant Connexin32.
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J. Neurosci.
17, 9077-9084
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- The Swiss Cheese Mutant Causes Glial Hyperwrapping and Brain Degeneration in Drosophila.
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J. Neurosci.
17, 7425-7432
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- Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected.
- E. M. Wicklein, U. Orth, A. Gal, and K. Kunze (1997)
J. Neurol. Neurosurg. Psychiatry
63, 379-381
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