Associated Papers
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Barbat du Closel L et al.
European Journal of Neurology, 2025
A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.
Tettey-Matey A et al.
Cell Communication and Signaling : Ccs, 2024
GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.
Kuang Y et al.
Ebiomedicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.
Spagnol G et al.
Biopolymers, 2016
Connexins, gap junctions and peripheral neuropathy.
Kleopa KA et al.
Neuroscience Letters, 2015
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.
Abrams CK et al.
Cell and Tissue Research, 2015
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015
Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.
Sun Y et al.
Plos One, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopa KA et al.
Brain Research, 2012
Characterization of the structure and intermolecular interactions between the connexin 32 carboxyl-terminal domain and the protein partners synapse-associated protein 97 and calmodulin.
Stauch K et al.
The Journal of Biological Chemistry, 2012
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
Intracellular cysteine 346 is essentially involved in regulating Panx1 channel activity.
Bunse S et al.
The Journal of Biological Chemistry, 2010
Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.
Huang Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Severe neuropathy with leaky connexin32 hemichannels.
Liang GS et al.
Annals of Neurology, 2005
Disease mechanisms in inherited neuropathies.
Suter U et al.
Nature Reviews. Neuroscience, 2003
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female.
Lin GS et al.
Annals of the New York Academy of Sciences, 1999
A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female.
Lin GS et al.
Annals of the New York Academy of Sciences, 1999