Article
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Human mutation - 1 Mar 2010
Natsuga Ken, Nishie Wataru, Akiyama Masashi, Nakamura Hideki, Shinkuma Satoru, McMillan James R, Nagasaki Akari, Has Cristina, Ouchi Takeshi, Ishiko Akira, Hirako Yoshiaki, Owaribe Katsushi, Sawamura Daisuke, Bruckner-Tuderman Leena, Shimizu Hiroshi
Abstract excerpt
Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC1) cause two distinct autosomal recessive subtypes of epidermolysis bullosa (EB): EB simplex with muscular dystrophy (EBS-MD), and EB simplex with pyloric atresia (EBS-PA). Here, we demonstrate that normal human fibroblasts express...
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