Science 24 December 1993: Vol. 262. no. 5142, pp. 2039 - 2042 DOI: 10.1126/science.8266101

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Articles

Connexin32 Mutations Cause Loss of Function in Schwann Cells and Oligodendrocytes Leading to PNS and CNS Myelination Defects.

I. Sargiannidou, N. Vavlitou, S. Aristodemou, A. Hadjisavvas, K. Kyriacou, S. S. Scherer, and K. A. Kleopa (2009)
J. Neurosci. 29, 4736-4749
 |  Abstract »  |  Full Text »  |  PDF »

Connexin43 pseudogene in breast cancer cells offers a novel therapeutic target.

A. Bier, I. Oviedo-Landaverde, J. Zhao, Y. Mamane, M. Kandouz, and G. Batist (2009)
Mol. Cancer Ther. 8, 786-793
 |  Abstract »  |  Full Text »  |  PDF »

Connexin26 deafness associated mutations show altered permeability to large cationic molecules.

G. Mese, V. Valiunas, P. R. Brink, and T. W. White (2008)
Am J Physiol Cell Physiol 295, C966-C974
 |  Abstract »  |  Full Text »  |  PDF »

Opalin, a Transmembrane Sialylglycoprotein Located in the Central Nervous System Myelin Paranodal Loop Membrane.

F. Yoshikawa, Y. Sato, K. Tohyama, T. Akagi, T. Hashikawa, Y. Nagakura-Takagi, Y. Sekine, N. Morita, H. Baba, Y. Suzuki, et al. (2008)
J. Biol. Chem. 283, 20830-20840
 |  Abstract »  |  Full Text »  |  PDF »

Phosphorylation at S365 is a gatekeeper event that changes the structure of Cx43 and prevents down-regulation by PKC.

J. L. Solan, L. Marquez-Rosado, P. L. Sorgen, P. J. Thornton, P. R. Gafken, and P. D. Lampe (2007)
J. Cell Biol. 179, 1301-1309
 |  Abstract »  |  Full Text »  |  PDF »

CMT1X phenotypes represent loss of GJB1 gene function.

M. E. Shy, C. Siskind, E. R. Swan, K. M. Krajewski, T. Doherty, D. R. Fuerst, P. J. Ainsworth, R. A. Lewis, S. S. Scherer, and A. F. Hahn (2007)
Neurology 68, 849-855
 |  Abstract »  |  Full Text »  |  PDF »

Mutation Scanning the GJB1 Gene with High-Resolution Melting Analysis: Implications for Mutation Scanning of Genes for Charcot-Marie-Tooth Disease.

M. L. Kennerson, T. Warburton, E. Nelis, M. Brewer, P. Polly, P. De Jonghe, V. Timmerman, and G. A. Nicholson (2007)
Clin. Chem. 53, 349-352
 |  Abstract »  |  Full Text »  |  PDF »

Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.

I. G. Huttner, M. L. Kennerson, S. W. Reddel, D. Radovanovic, and G. A. Nicholson (2006)
Neurology 67, 2016-2021
 |  Abstract »  |  Full Text »  |  PDF »

Genetic and Physiological Evidence That Oligodendrocyte Gap Junctions Contribute to Spatial Buffering of Potassium Released during Neuronal Activity.

D. M. Menichella, M. Majdan, R. Awatramani, D. A. Goodenough, E. Sirkowski, S. S. Scherer, and D. L. Paul (2006)
J. Neurosci. 26, 10984-10991
 |  Abstract »  |  Full Text »  |  PDF »

Molecular and physiological bases of the k+ circulation in the Mammalian inner ear..

H. Hibino and Y. Kurachi (2006)
Physiology 21, 336-345
 |  Abstract »  |  Full Text »  |  PDF »

The Structural Context of Disease-causing Mutations in Gap Junctions.

S. J. Fleishman, A. D. Sabag, E. Ophir, K. B. Avraham, and N. Ben-Tal (2006)
J. Biol. Chem. 281, 28958-28963
 |  Abstract »  |  Full Text »  |  PDF »

Analysis of Connexin43 phosphorylated at S325, S328 and S330 in normoxic and ischemic heart.

P. D. Lampe, C. D. Cooper, T. J. King, and J. M. Burt (2006)
J. Cell Sci. 119, 3435-3442
 |  Abstract »  |  Full Text »  |  PDF »

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

M. Bugiani, S. Al Shahwan, E. Lamantea, A. Bizzi, E. Bakhsh, I. Moroni, M. R. Balestrini, G. Uziel, and M. Zeviani (2006)
Neurology 67, 273-279
 |  Abstract »  |  Full Text »  |  PDF »

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.

C. K. Abrams, M. M. Freidin, V. K. Verselis, T. A. Bargiello, D. P. Kelsell, G. Richard, M. V. L. Bennett, and F. F. Bukauskas (2006)
PNAS 103, 5213-5218
 |  Abstract »  |  Full Text »  |  PDF »

Low Conductance Gap Junctions Mediate Specific Electrical Coupling in Body-wall Muscle Cells of Caenorhabditis elegans.

Q. Liu, B. Chen, E. Gaier, J. Joshi, and Z.-W. Wang (2006)
J. Biol. Chem. 281, 7881-7889
 |  Abstract »  |  Full Text »  |  PDF »

Connexin29 Is Highly Expressed in Cochlear Schwann Cells, and It Is Required for the Normal Development and Function of the Auditory Nerve of Mice.

W. Tang, Y. Zhang, Q. Chang, S. Ahmad, I. Dahlke, H. Yi, P. Chen, D. L. Paul, and X. Lin (2006)
J. Neurosci. 26, 1991-1999
 |  Abstract »  |  Full Text »  |  PDF »

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.

K. A. Kleopa, E. Zamba-Papanicolaou, X. Alevra, P. Nicolaou, D. -M. Georgiou, A. Hadjisavvas, T. Kyriakides, and K. Christodoulou (2006)
Neurology 66, 396-402
 |  Abstract »  |  Full Text »  |  PDF »

Filling in the gap: cloning a connexin.

K. Powell (2006)
J. Cell Biol. 172, 6
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Prenylation-Defective Human Connexin32 Mutants Are Normally Localized and Function Equivalently to Wild-Type Connexin32 in Myelinating Schwann Cells.

Y. Huang, E. E. Sirkowski, J. T. Stickney, and S. S. Scherer (2005)
J. Neurosci. 25, 7111-7120
 |  Abstract »  |  Full Text »  |  PDF »

Chaperoning Motor Neurons.

D. Pleasure (2005)
Arch Neurol 62, 1193
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A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

H. -J. Kim, S. H. Hong, C. -S. Ki, B. -J. Kim, J. -S. Shim, S. -H. Cho, J. -H. Park, and J. -W. Kim (2005)
Neurology 64, 1964-1967
 |  Abstract »  |  Full Text »  |  PDF »

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia.

J. Shibayama, W. Paznekas, A. Seki, S. Taffet, E. W. Jabs, M. Delmar, and H. Musa (2005)
Circ. Res. 96, e83-e91
 |  Abstract »  |  Full Text »  |  PDF »

Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts.

J. Sun, S. Ahmad, S. Chen, W. Tang, Y. Zhang, P. Chen, and X. Lin (2005)
Am J Physiol Cell Physiol 288, C613-C623
 |  Abstract »  |  Full Text »  |  PDF »

Transgenic Expression of Human Connexin32 in Myelinating Schwann Cells Prevents Demyelination in Connexin32-Null Mice.

S. S. Scherer, Y.-T. Xu, A. Messing, K. Willecke, K. H. Fischbeck, and L. J. B. Jeng (2005)
J. Neurosci. 25, 1550-1559
 |  Abstract »  |  Full Text »  |  PDF »

Gap Junctions Regulate Extracellular Signal-regulated Kinase Signaling to Affect Gene Transcription.

J. P. Stains and R. Civitelli (2005)
Mol. Biol. Cell 16, 64-72
 |  Abstract »  |  Full Text »  |  PDF »

Redefining the structure of the mouse connexin43 gene: selective promoter usage and alternative splicing mechanisms yield transcripts with different translational efficiencies.

I. Pfeifer, C. Anderson, R. Werner, and E. Oltra (2004)
Nucleic Acids Res. 32, 4550-4562
 |  Abstract »  |  Full Text »  |  PDF »

Biology of Cardiac Arrhythmias: Ion Channel Protein Trafficking.

B. P. Delisle, B. D. Anson, S. Rajamani, and C. T. January (2004)
Circ. Res. 94, 1418-1428
 |  Abstract »  |  Full Text »  |  PDF »

Four Classes of Intercellular Channels between Glial Cells in the CNS.

B. M. Altevogt and D. L. Paul (2004)
J. Neurosci. 24, 4313-4323
 |  Abstract »  |  Full Text »  |  PDF »

Incorporation of connexins into plasma membranes and gap junctions.

P. E.M. Martin and W.H. Evans (2004)
Cardiovasc Res 62, 378-387
 |  Abstract »  |  Full Text »  |  PDF »

Delayed liver regeneration and increased susceptibility to chemical hepatocarcinogenesis in transgenic mice expressing a dominant-negative mutant of connexin32 only in the liver.

M. L. Z. Dagli, H. Yamasaki, V. Krutovskikh, and Y. Omori (2004)
Carcinogenesis 25, 483-492
 |  Abstract »  |  Full Text »  |  PDF »

Connexin32-Containing Gap Junctions in Schwann Cells at the Internodal Zone of Partial Myelin Compaction and in Schmidt-Lanterman Incisures.

C. Meier, R. Dermietzel, K. G. V. Davidson, T. Yasumura, and J. E. Rash (2004)
J. Neurosci. 24, 3186-3198
 |  Abstract »  |  Full Text »  |  PDF »

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.

E Nelis, J Berciano, N Verpoorten, K Coen, I Dierick, V Van Gerwen, O Combarros, P De Jonghe, and V Timmerman (2004)
J. Med. Genet. 41, 193-197
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Somatic mosaicism in Charcot-Marie-Tooth type X disease.

A. Kochanski, A. Nowakowski, M. Kawulak, D. Kabzinska, and I. Hausmanowa-Petrusewicz (2004)
Neurology 62, 336-337
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Coexistent hereditary and inflammatory neuropathy.

L. Ginsberg, O. Malik, A. R. Kenton, D. Sharp, J. R. Muddle, M. B. Davis, J. B. Winer, R. W. Orrell, and R. H. M. King (2004)
Brain 127, 193-202
 |  Abstract »  |  Full Text »  |  PDF »

Molecular basis of calcium regulation in connexin-32 hemichannels.

J. M. Gomez-Hernandez, M. de Miguel, B. Larrosa, D. Gonzalez, and L. C. Barrio (2003)
PNAS 100, 16030-16035
 |  Abstract »  |  Full Text »  |  PDF »

Plasma Membrane Channels Formed by Connexins: Their Regulation and Functions.

J. C. SAEZ, V. M. BERTHOUD, M. C. BRANES, A. D. MARTINEZ, and E. C. BEYER (2003)
Physiol Rev 83, 1359-1400
 |  Abstract »  |  Full Text »  |  PDF »

Single-channel SCAM Identifies Pore-lining Residues in the First Extracellular Loop and First Transmembrane Domains of Cx46 Hemichannels.

J. Kronengold, E.B. Trexler, F.F. Bukauskas, T.A. Bargiello, and V.K. Verselis (2003)
J. Gen. Physiol. 122, 389-405
 |  Abstract »  |  Full Text »  |  PDF »

Exocrine specific expression of Connexin32 is dependent on the basic helix-loop-helix transcription factor Mist1.

J. M. Rukstalis, A. Kowalik, L. Zhu, D. Lidington, C. L. Pin, and S. F. Konieczny (2003)
J. Cell Sci. 116, 3315-3325
 |  Abstract »  |  Full Text »  |  PDF »

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders.

G. Bakirtzis, R. Choudhry, T. Aasen, L. Shore, K. Brown, S. Bryson, S. Forrow, L. Tetley, M. Finbow, D. Greenhalgh, et al. (2003)
Hum. Mol. Genet. 12, 1737-1744
 |  Abstract »  |  Full Text »  |  PDF »

Connexins Are Critical for Normal Myelination in the CNS.

D. M. Menichella, D. A. Goodenough, E. Sirkowski, S. S. Scherer, and D. L. Paul (2003)
J. Neurosci. 23, 5963-5973
 |  Abstract »  |  Full Text »  |  PDF »

Regulation of Intermuscular Electrical Coupling by the Caenorhabditis elegans Innexin inx-6.

S. Li, J. A. Dent, and R. Roy (2003)
Mol. Biol. Cell 14, 2630-2644
 |  Abstract »  |  Full Text »  |  PDF »

Gap Junctional Communication Modulates Gene Transcription by Altering the Recruitment of Sp1 and Sp3 to Connexin-response Elements in Osteoblast Promoters.

J. P. Stains, F. Lecanda, J. Screen, D. A. Towler, and R. Civitelli (2003)
J. Biol. Chem. 278, 24377-24387
 |  Abstract »  |  Full Text »  |  PDF »

Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation.

R. Perez-Olle, C. L. Leung, and R. K. H. Liem (2003)
J. Cell Sci. 115, 4937-4946
 |  Abstract »  |  Full Text »  |  PDF »

Oligodendrocyte Progenitor Enrichment in the Connexin32 Null-Mutant Mouse.

L. Melanson-Drapeau, S. Beyko, S. Dave, A. L. O. Hebb, D. J. Franks, C. Sellitto, D. L. Paul, and S. A. L. Bennett (2003)
J. Neurosci. 23, 1759-1768
 |  Abstract »  |  Full Text »  |  PDF »

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

N. Hattori, M. Yamamoto, T. Yoshihara, H. Koike, M. Nakagawa, H. Yoshikawa, A. Ohnishi, K. Hayasaka, O. Onodera, M. Baba, et al. (2003)
Brain 126, 134-151
 |  Abstract »  |  Full Text »  |  PDF »

Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness.

M McEntagart, M Dunstan, C Bell, E Boltshauser, M Donaghy, P S Harper, N Williams, M D Teare, and N Rahman (2002)
J. Neurol. Neurosurg. Psychiatry 73, 762-765
 |  Abstract »  |  Full Text »  |  PDF »

Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.

N. Kalfakis, M. Panas, G. Karadima, P. Floroskufi, N. Kokolakis, and D. Vassilopoulos (2002)
Neurology 59, 1470-1471
 |  Full Text »  |  PDF »

Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells.

S. Poliak, S. Matlis, C. Ullmer, S. S. Scherer, and E. Peles (2002)
J. Cell Biol. 159, 361-372
 |  Abstract »  |  Full Text »  |  PDF »

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.

H. Kawakami, K. Inoue, I. Sakakihara, and S. Nakamura (2002)
Neurology 59, 923-926
 |  Abstract »  |  Full Text »  |  PDF »

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

M-J Lee, I Nelson, H Houlden, M G Sweeney, D Hilton-Jones, J Blake, N W Wood, and M M Reilly (2002)
J. Neurol. Neurosurg. Psychiatry 73, 304-306
 |  Abstract »  |  Full Text »  |  PDF »

Allelic variants in the 5` non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

C Bergmann, K Zerres, S Rudnik-Schoneborn, T Eggermann, J M Schroder, and J Senderek (2002)
J. Med. Genet. 39, e58-58
 |  Full Text »  |  PDF »

Connexin29 Is Uniquely Distributed within Myelinating Glial Cells of the Central and Peripheral Nervous Systems.

B. M. Altevogt, K. A. Kleopa, F. R. Postma, S. S. Scherer, and D. L. Paul (2002)
J. Neurosci. 22, 6458-6470
 |  Abstract »  |  Full Text »  |  PDF »

The neuronal channelopathies.

D. M. Kullmann (2002)
Brain 125, 1177-1195
 |  Abstract »  |  Full Text »  |  PDF »

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.

C. K. Abrams, M. V. L. Bennett, V. K. Verselis, and T. A. Bargiello (2002)
PNAS 99, 3980-3984
 |  Abstract »  |  Full Text »  |  PDF »

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.

X. Z. Liu, X. J. Xia, J. Adams, Z. Y. Chen, K. O. Welch, M. Tekin, X. M. Ouyang, A. Kristiansen, A. Pandya, T. Balkany, et al. (2001)
Hum. Mol. Genet. 10, 2945-2951
 |  Abstract »  |  Full Text »  |  PDF »

Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.

M. Panas, N. Kalfakis, C. Karadimas, and D. Vassilopoulos (2001)
Neurology 57, 1906-1908
 |  Abstract »  |  Full Text »  |  PDF »

Clinical and Molecular Studies in a Family With Probable X-linked Dominant Charcot-Marie-Tooth Disease Involving the Central Nervous System.

F. M. Hisama, H. H. Lee, A. Vashlishan, P. Tekumalla, D. S. Russell, E. Auld, and J. M. Goldstein (2001)
Arch Neurol 58, 1891-1896
 |  Abstract »  |  Full Text »  |  PDF »

Gap junction expression and cell proliferation in differentiating cultures of Cx43 KO mouse hepatocytes.

T. Kojima, A. Fort, M. Tao, M. Yamamoto, and D. C. Spray (2001)
Am J Physiol Gastrointest Liver Physiol 281, G1004-G1013
 |  Abstract »  |  Full Text »  |  PDF »

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

O. Dubourg, S. Tardieu, N. Birouk, R. Gouider, J. M. Leger, T. Maisonobe, A. Brice, P. Bouche, and E. LeGuern (2001)
Brain 124, 1958-1967
 |  Abstract »  |  Full Text »  |  PDF »

Regulation of hematopoiesis by gap junction-mediated intercellular communication.

E. Montecino-Rodriguez and K. Dorshkind (2001)
J. Leukoc. Biol. 70, 341-347
 |  Abstract »  |  Full Text »  |  PDF »

PGE2 Is Essential for Gap Junction-Mediated Intercellular Communication between Osteocyte-Like MLO-Y4 Cells in Response to Mechanical Strain.

B. Cheng, Y. Kato, S. Zhao, J. Luo, E. Sprague, L. F. Bonewald, and J. X. Jiang (2001)
Endocrinology 142, 3464-3473
 |  Abstract »  |  Full Text »  |  PDF »

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

N. Lopez-Bigas, M. Olive, R. Rabionet, O. Ben-David, J. A. Martinez-Matos, O. Bravo, I. Banchs, V. Volpini, P. Gasparini, K. B. Avraham, et al. (2001)
Hum. Mol. Genet. 10, 947-952
 |  Abstract »  |  Full Text »  |  PDF »

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

F. Rouan, T. W. White, N. Brown, A. M. Taylor, T. W. Lucke, D. L. Paul, C. S. Munro, J. Uitto, M. B. Hodgins, and G. Richard (2001)
J. Cell Sci. 114, 2105-2113
 |  Abstract »  |  Full Text »  |  PDF »

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.

J. D. Pal, X. Liu, D. Mackay, A. Shiels, V. M. Berthoud, E. C. Beyer, and L. Ebihara (2000)
Am J Physiol Cell Physiol 279, C596-C602
 |  Abstract »  |  Full Text »  |  PDF »

Myelination Defects and Neuronal Hyperexcitability in the Neocortex of Connexin 32-deficient Mice.

B. Sutor, C. Schmolke, B. Teubner, C. Schirmer, and K. Willecke (2000)
Cereb Cortex 10, 684-697
 |  Abstract »  |  Full Text »  |  PDF »

Reduced levels of connexin43 in cervical dysplasia: inducible expression in a cervical carcinoma cell line decreases neoplastic potential with implications for tumor progression.

T. J. King, L. H. Fukushima, A. D. Hieber, K. A. Shimabukuro, W. A. Sakr, and J. S. Bertram (2000)
Carcinogenesis 21, 1097-1109
 |  Abstract »  |  Full Text »  |  PDF »

Intracellular Transport, Assembly, and Degradation of Wild-Type and Disease-linked Mutant Gap Junction Proteins.

J. K. VanSlyke, S. M. Deschenes, and L. S. Musil (2000)
Mol. Biol. Cell 11, 1933-1946
 |  Abstract »  |  Full Text »

Exploring the relationship between the inhibition of gap junctional intercellular communication and other biological phenomena.

H.S. Rosenkranz, N. Pollack, and A.R. Cunningham (2000)
Carcinogenesis 21, 1007-1011
 |  Abstract »  |  Full Text »  |  PDF »

Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies.

S Sander, R A Ouvrier, J G McLeod, G A Nicholson, and J D Pollard (2000)
J. Neurol. Neurosurg. Psychiatry 68, 483-488
 |  Abstract »  |  Full Text »  |  PDF »

Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy.

J. Kamholz, D. Menichella, A. Jani, J. Garbern, R. A. Lewis, K. M. Krajewski, J. Lilien, S. S. Scherer, and M. E. Shy (2000)
Brain 123, 222-233
 |  Abstract »  |  Full Text »  |  PDF »

Gap Junctional Coupling and Patterns of Connexin Expression among Neonatal Rat Lumbar Spinal Motor Neurons.

Q. Chang, M. Gonzalez, M. J. Pinter, and R. J. Balice-Gordon (1999)
J. Neurosci. 19, 10813-10828
 |  Abstract »  |  Full Text »  |  PDF »

A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype.

P. De Jonghe, V. Timmerman, E. Nelis, E. De Vriendt, A. Lofgren, C. Ceuterick, J.-J. Martin, and C. Van Broeckhoven (1999)
Arch Neurol 56, 1283-1288
 |  Abstract »  |  Full Text »  |  PDF »

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

F L Mastaglia, K J Nowak, R Stell, B A Phillips, J E Edmondston, S M Dorosz, S D Wilton, J Hallmayer, B A Kakulas, and N G Laing (1999)
J. Neurol. Neurosurg. Psychiatry 67, 174-179
 |  Abstract »  |  Full Text »  |  PDF »

Differential Expression of Gap Junction Proteins Connexin26, 32, and 43 in Normal and Crush-injured Rat Sciatic Nerves: Close Relationship Between Connexin43 and Occludin in the Perineurium.

T. Nagaoka, M. Oyamada, S. Okajima, and T. Takamatsu (1999)
J. Histochem. Cytochem. 47, 937-948
 |  Abstract »  |  Full Text »

Characterization of a Mouse Cx50 Mutation Associated with the No2 Mouse Cataract.

X. Xu and L. Ebihara (1999)
Invest. Ophthalmol. Vis. Sci. 40, 1844-1850
 |  Abstract »  |  Full Text »  |  PDF »

Is the chemical gate of connexins voltage sensitive? Behavior of Cx32 wild-type and mutant channels.

C. Peracchia, X. G. Wang, and L. L. Peracchia (1999)
Am J Physiol Cell Physiol 276, C1361-C1373
 |  Abstract »  |  Full Text »  |  PDF »

Trafficking, Assembly, and Function of a Connexin43-Green Fluorescent Protein Chimera in Live Mammalian Cells.

K. Jordan, J. L. Solan, M. Dominguez, M. Sia, A. Hand, P. D. Lampe, and D. W. Laird (1999)
Mol. Biol. Cell 10, 2033-2050
 |  Abstract »  |  Full Text »

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
 |  Abstract »  |  Full Text »  |  PDF »

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
 |  Abstract »  |  Full Text »  |  PDF »

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
 |  Abstract »  |  Full Text »

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
 |  Abstract »  |  Full Text »

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
 |  Abstract »  |  Full Text »

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
 |  Abstract »  |  PDF »

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
 |  Full Text »

Connexin-Aequorin Chimerae Report Cytoplasmic Calcium Environments along Trafficking Pathways Leading to Gap Junction Biogenesis in Living COS-7 Cells.

C. H. George, J. M. Kendall, A. K. Campbell, and W. H. Evans (1998)
J. Biol. Chem. 273, 29822-29829
 |  Abstract »  |  Full Text »  |  PDF »

Functional Gap Junctions in the Schwann Cell Myelin Sheath.

R. J. Balice-Gordon, L. J. Bone, and S. S. Scherer (1998)
J. Cell Biol. 142, 1095-1104
 |  Abstract »  |  Full Text »  |  PDF »

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
 |  Abstract »  |  Full Text »  |  PDF »

Axonal Swellings and Degeneration in Mice Lacking the Major Proteolipid of Myelin.

I. Griffiths, M. Klugmann, T. Anderson, D. Yool, C. Thomson, M. H. Schwab, A. Schneider, F. Zimmermann, M. McCulloch, N. Nadon, et al. (1998)
Science 280, 1610-1613
 |  Abstract »  |  Full Text »

Connexin32 Mutations Associated with X-Linked Charcot-Marie-Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties.

C. Ressot, D. Gomes, A. Dautigny, D. Pham-Dinh, and R. Bruzzone (1998)
J. Neurosci. 18, 4063-4075
 |  Abstract »  |  Full Text »  |  PDF »

Case 13-1998- A 23-Year-Old Man with Progressive Weakness and Paresthesias.

S. C. Gominak and D. P. Cros (1998)
N. Engl. J. Med. 338, 1212-1219
 |  Full Text »  |  PDF »

Genetic aspects of Charcot-Marie-Tooth disease.

C. BELL and N. HAITES (1998)
Arch. Dis. Child. 78, 296-300
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Heart Defects in Connexin43-Deficient Mice.

J. Ya, E. B. H. W. Erdtsieck-Ernste, P. A. J. de Boer, M. J. A. van Kempen, H. Jongsma, D. Gros, A. F. M. Moorman, and W. H. Lamers (1998)
Circ. Res. 82, 360-366
 |  Abstract »  |  Full Text »  |  PDF »

Isoform Composition of Connexin Channels Determines Selectivity among Second Messengers and Uncharged Molecules.

C. G. Bevans, M. Kordel, S. K. Rhee, and A. L. Harris (1998)
J. Biol. Chem. 273, 2808-2816
 |  Abstract »  |  Full Text »  |  PDF »

Altered Trafficking of Mutant Connexin32.

S. M. Deschenes, J. L. Walcott, T. L. Wexler, S. S. Scherer, and K. H. Fischbeck (1997)
J. Neurosci. 17, 9077-9084
 |  Abstract »  |  Full Text »  |  PDF »

The Swiss Cheese Mutant Causes Glial Hyperwrapping and Brain Degeneration in Drosophila.

D. Kretzschmar, G. Hasan, S. Sharma, M. Heisenberg, and S. Benzer (1997)
J. Neurosci. 17, 7425-7432
 |  Abstract »  |  Full Text »  |  PDF »

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
 |  Abstract »  |  Full Text »  |  PDF »

HNMP-1: A Novel Hematopoietic and Neural Membrane Protein Differentially Regulated in Neural Development and Injury.

L. M. Bolin, T. McNeil, L. A. Lucian, B. DeVaux, K. Franz-Bacon, D. M. Gorman, S. Zurawski, R. Murray, and T. K. McClanahan (1997)
J. Neurosci. 17, 5493-5502
 |  Abstract »  |  Full Text »  |  PDF »

Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32.

P. Anzini, D. H.-H. Neuberg, M. Schachner, E. Nelles, K. Willecke, J. Zielasek, K. V. Toyka, U. Suter, and R. Martini (1997)
J. Neurosci. 17, 4545-4551
 |  Abstract »  |  Full Text »  |  PDF »

Correlation Between the Histopathologic, Genotypic, and Phenotypic Features of Hereditary Peripheral Neuropathies in Childhood.

R. Ouvrier (1996)
J Child Neurol 11, 133-146
 |  Abstract »  |  PDF »

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