Article
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.
Human mutation - 1 Dec 2017
Natsuga Ken, Nishie Wataru, Nishimura Machiko, Shinkuma Satoru, Watanabe Mika, Izumi Kentaro, Nakamura Hideki, Hirako Yoshiaki, Shimizu Hiroshi
Abstract excerpt
Plectin is a linker protein that interacts with intermediate filaments and β4 integrin in hemidesmosomes of the epidermal basement membrane zone (BMZ). Type XVII collagen (COL17) has been suggested as another candidate plectin binding partner in hemidesmosomes. Here, we demonstrate that plectin-COL17 binding helps to maintain epidermal BMZ organization. We identified an epidermolysis bullosa (EB) simplex patient...
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