Neuron
ArticleNull mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
References (55)
- et al.
Gap junctions: new tools, new answers, new questions
Neuron
(1991) - et al.
Gap junctions in the brain: where, what type, how many and why?
Trends Neurosci.
(1993) - et al.
Glial-neuron interactions and the regulation of myelin formation
Curr. Opin. Neurobiol.
(1993) - et al.
Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction
Neuron
(1990) - et al.
Gap junctions in cultured astrocytes: single-channel currents and characterization of channel-forming protein
Neuron
(1991) Dye coupling between mouse Schwann cells
Brain Res.
(1990)Unwrapping the genes of myelin
Neuron
(1988)- et al.
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
Cell
(1991) - et al.
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
Trends Genet.
(1994) - et al.
Identification of novel connexins by reduced stringency hybridization and PCR amplification using degenerate primers
Prog. Cell Res.
(1993)
Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system
Trends Neurosci.
Formation of gap junctions by expression of connexins in Xenopus oocyte pairs
Cell
Gap junctions formed by connexins 26 and 32 alone and in combination are differently affected by applied voltage
Connexin mutations in X-linked Charcot-Marie-Tooth disease
Science
Gap junctions
Int. Rev. Cytol.
Junctions between intimately apposed cell membranes in the vertebrate brain
J. Cell Biol.
Expression of chimeric connexins reveals new properties of the formation and gating behavior of gap junction channels
J. Cell Sci.
Expression of chimeric connexins reveals new properties of the formation and gating behavior of gap junction channels
J. Cell Sci.
Gating characteristics of a steeply voltage-gated gap junction channel in rat Schwann cells
J. Gen. Physiol.
Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains
Rev. Méd.
Expression of functional cell-cell channels from cloned rat liver gap junction complementaty DNA
Science
Gap junctions between cultured astrocytes: immunocytochemical, molecular, and electrophysiological analysis
J. Neurosci.
Expression of gap junction channels in communication-incompetent cells after stable transfection with cDNA ecnoding connexin 32
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth (CMTX1)
Hum. Mol. Genet.
Role of myelin P0 protein as a homophilic adhesion molecule
Nature
Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis
Dev. Dyn.
Topological distribution of two connexin32 antigenic sites in intact and split rodent hepatocyte gap junctions
J. Cell Biol.
Cited by (184)
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease
2023, Biochemical PharmacologyDiseases of connexins expressed in myelinating glia
2019, Neuroscience LettersCitation Excerpt :Work from several labs supports the loss of function model. Some mutations reduce functional coupling, either by inhibiting assembly/formation of gap junction plaques or by altering biophysical properties of the channels [4,5,24,28,112,114,121,160,168]. These may include reducing pore size [24,112], increasing sensitivity to acidification-induced closure [2,121], or most commonly an apparent stabilization of the closed state of the channel [4,5,112,122].
Human diseases associated with connexin mutations
2018, Biochimica et Biophysica Acta - BiomembranesCitation Excerpt :In the case of Cx43, it has been determined that GJA1 gene mutations cause ODDD by at least ten distinct mechanisms [100,128]. In contrast, for Cx32, most of the GJB2 mutations fail to form functional channels, suggesting a consistent loss of function mechanism [86,129,130]. For brevity, we will focus here on the functional consequences of mutations in Cx26.
Connexins, gap junctions and peripheral neuropathy
2015, Neuroscience LettersAxonal excitability in X-linked dominant Charcot Marie Tooth disease
2014, Clinical NeurophysiologyCitation Excerpt :Mutant Cx32 generally causes a loss of function, but this can involve a number of mechanisms. These include an alteration of junctional permeability with a change in channel open probability or pore size (Oh et al., 1997), abnormal trafficking of mutant Cx32 proteins to their cellular localisation with toxic effects of their accumulation, and its dominant-negative interactions with other connexins (Bruzzone et al., 1994; Deschênes et al., 1997; Scherer and Fischbeck, 1999). Most of these findings are based on in vitro cell or transgenic mouse models.