Associated Papers
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.
Martikainen MH et al.
Neuromuscular Disorders : Nmd, 2013
Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.
Tsai PC et al.
Journal of the Neurological Sciences, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
X-linked Charcot-Marie-Tooth disease.
Scherer SS et al.
Journal of the Peripheral Nervous System : Jpns, 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
Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.
Kabzińska D et al.
Acta Biochimica Polonica, 2011
-459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.
Li M et al.
Journal of the Peripheral Nervous System : Jpns, 2009
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
Yum SW et al.
Neurobiology of Disease, 2002
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel CF et al.
Annals of Neurology, 2002
Altered Assembly of Gap Junction Channels Caused by COOH-Terminal Connexin32 Mutants of CMTX.
Barrio LC et al.
Annals of the New York Academy of Sciences, 1999
Altered assembly of gap junction channels caused by COOH-terminal connexin32 mutants of CMTX.
Barrio LC et al.
Annals of the New York Academy of Sciences, 1999
Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
Castro C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
Nelis E et al.
Human Mutation, 1997