Article
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Brain : a journal of neurology - 1 Dec 2023
Ptak Christopher P, Peterson Tabitha A, Hopkins Jesse B, Ahern Christopher A, Shy Michael E, Piper Robert C
Abstract excerpt
Mutations in MPZ (myelin protein zero) can cause demyelinating early-onset Charcot-Marie-Tooth type 1B disease or later onset type 2I/J disease characterized by axonal degeneration, reflecting the diverse roles of MPZ in Schwann cells. MPZ holds apposing membranes of the myelin sheath together, with the adhesion role fulfilled by its extracellular immunoglobulin-like domain (IgMPZ), which oligomerizes. Models for...
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