ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience1998
Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 104 citations in OpenAlex.
- Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.Genes · 2026Review
- Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain : a journal of neurology · 2023Article
- Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy.Molecular therapy. Methods & clinical development · 2023Article
- Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.Science advances · 2023Article
- X-linked Charcot Marie Tooth mutations alter COFrontiers in cellular neuroscience · 2023Article
- Mechanisms of Connexin Regulating Peptides.International journal of molecular sciences · 2021Review
- Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32.BMC cell biology · 2018Article
- What's the Function of Connexin 32 in the Peripheral Nervous System?Frontiers in molecular neuroscience · 2018Review
- Synaptic Functions of Hemichannels and Pannexons: A Double-Edged Sword.Frontiers in molecular neuroscience · 2018Review
- Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.Scientific reports · 2017Article
- Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.BioMed research international · 2014Article
- How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Brain research · 2012Review
- Gap junctions in inherited human disorders of the central nervous system.Biochimica et biophysica acta · 2012Review
- A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.Journal of neurology · 2011Article
- GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Neurogenetics · 2010Article
- Gap junctions in inherited human disease.Pflugers Archiv : European journal of physiology · 2010Review
- The N terminus of connexin37 contains an alpha-helix that is required for channel function.The Journal of biological chemistry · 2009Article
- An intact connexin N-terminus is required for function but not gap junction formation.Journal of cell science · 2008Article
- A fully atomistic model of the Cx32 connexon.PloS one · 2008Article
- Role of the cytoplasmic loop domain of Cx43 in its intracellular localization and function: possible interaction with cadherin.The Journal of membrane biology · 2007Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The X-linked form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32 (Cx32), which is expressed in Schwann cells. We have compared the functional properties of 11 Cx32 mutations with those of the wild-type protein by testing their ability to form intercellular channels in the paired oocyte expression system. Although seven mutations were functionally incompetent, four others were able to generate intercellular currents of the same order of magnitude as those induced by wild-type Cx32 (Cx32wt). In homotypic oocyte pairs, CMTX mutations retaining functional activity induced the development of junctional currents that exhibited changes in the sensitivity and kinetics of voltage dependence with respect to that of Cx32wt. The four mutations were also capable of interacting in heterotypic configuration with the wild-type protein, and in one case the result was a marked rectification of junctional currents in response to voltage steps of opposite polarity. In addition, the functional CMTX mutations displayed the same selective pattern of compatibility as Cx32wt, interacting with Cx26, Cx46, and Cx50 but failing to do so with Cx40. Although the functional mutations exhibited sensitivity to cytoplasmic acidification, which induced a >/=80% decrease in junctional currents, both the rate and extent of channel closure were enhanced markedly for two of them. Together, these results indicate that the functional consequences of CMTX mutations of Cx32 are of two drastically distinct kinds. The presence of a functional group of mutations suggests that a selective deficit of Cx32 channels may be sufficient to impair the homeostasis of Schwann cells and lead to the development of CMTX.
Indexed as
Identifiers
9592087PMC6792797W1544475860What OpenQuestion holds
Registered trials
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