Associated Papers
A dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.
Christou M et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
Cemdomespib Therapy Slows the Progression of Neuromuscular Weakness and Demyelination in the R75W-Connexin 32 Animal Model of Charcot-Marie-Tooth 1X Disease.
Lang RM et al.
Acs Pharmacology & Translational Science, 2025
New perspectives for gene therapy of the X-linked form of Charcot-Marie-Tooth disease.
Caballé RB et al.
Molecular Therapy. Methods & Clinical Development, 2024
Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy.
Kagiava A et al.
Molecular Therapy. Methods & Clinical Development, 2023
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.
Pisciotta C et al.
Neuromuscular Disorders : Nmd, 2023
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Li T et al.
The Biochemical Journal, 2023
Charcot-Marie-Tooth neuropathies: Current gene therapy advances and the route toward translation.
Stavrou M et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.
Kagiava A et al.
Gene Therapy, 2021
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Stavrou M et al.
International Journal of Molecular Sciences, 2021
The role of oligodendrocyte gap junctions in neuroinflammation.
Papaneophytou C et al.
Channels (austin, Tex.), 2019
Intrathecal gene therapy in mouse models expressing CMT1X mutations.
Kagiava A et al.
Human Molecular Genetics, 2018
Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking.
Bai D et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
Kyriakoudi S et al.
Human Molecular Genetics, 2017
Structural analysis of key gap junction domains--Lessons from genome data and disease-linked mutants.
Bai D
Seminars in Cell & Developmental Biology, 2016
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Extracellular domains play different roles in gap junction formation and docking compatibility.
Bai D et al.
The Biochemical Journal, 2014
A mechanism of gap junction docking revealed by functional rescue of a human-disease-linked connexin mutant.
Gong XQ et al.
Journal of Cell Science, 2013
Asparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26.
Nakagawa S et al.
The Journal of Biological Chemistry, 2011
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
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K et al.
Human Mutation, 1998