Associated Papers
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.
Uner OE et al.
Ophthalmic Genetics, 2025
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms.
Luo S et al.
Frontiers in Neurology, 2019
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
Extracellular domains play different roles in gap junction formation and docking compatibility.
Bai D et al.
The Biochemical Journal, 2014
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N et al.
Brain : a Journal of Neurology, 2003
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C et al.
Human Mutation, 2002
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