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Bum-Ho Bin, Shintaro Hojyo, Toshiaki Hosaka, Jinhyuk Bhin, Hiroki Kano, Tomohiro Miyai, Mariko Ikeda, Tomomi Kimura-Someya, Mikako Shirouzu, Eun-Gyung Cho, Kazuhisa Fukue, Taiho Kambe, Wakana Ohashi, Kyu-Han Kim, Juyeon Seo, Dong-Hwa Choi, Yeon-Ju Nam, Daehee Hwang, Ayako Fukunaka, Yoshio Fujitani, Shigeyuki Yokoyama, Andrea Superti-Furga, Shiro Ikegawa, Tae Ryong Lee and Toshiyuki Fukada Molecular pathogenesis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins EMBO Molecular Medicine 6

Article first published online: 9 JUL 2014 | DOI: 10.15252/emmm.201303809

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The Spondylocheirodysplastic Ehlers-Danlos syndrome pathogenic ZIP13 mutants are degraded by the ubiquitin-proteasome pathway. Inhibition of this pathway restores ZIP13 levels with consequent improvement of intracellular Zn homeostasis.

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