Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Tryptophan Scanning Reveals Dense Packing of Connexin Transmembrane Domains in Gap Junction Channels Composed of Connexin32.
Brennan MJ et al.
The Journal of Biological Chemistry, 2015
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
Site-directed mutagenesis reveals putative regions of protein interaction within the transmembrane domains of connexins.
Toloue MM et al.
Cell Communication & Adhesion, 2008
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
Karadima G et al.
Journal of Neurology, 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
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 2000
Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease.
Nicholson SM et al.
Annals of the New York Academy of Sciences, 1999
Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.
Nicholson SM et al.
Annals of the New York Academy of Sciences, 1999
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
Nelis E et al.
Neurogenetics, 1999
Common themes in peripheral neuropathy disease genes.
Snipes GJ et al.
Cell Biology International, 1998
Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease.
Oh S et al.
Neuron, 1997
X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
Orth U et al.
Human Molecular Genetics, 1994