title: Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13.
abstract: The zinc transporter protein ZIP13 plays crucial roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). We recently reported that the pathogenic mutations in ZIP13 reduce its functional protein level by accelerating the protein degradation via the VCP-linked ubiquitin proteasome pathway, resulting in the disturbance of intracellular zinc homeostasis that appears to contribute to SCD-EDS pathogenesis. Finally, we implicate that possible therapeutic approaches for SCD-EDS would be based on regulating the degradation of the pathogenic mutant ZIP13 proteins.
authors.affiliation: Bioscience Research Institute; Amorepacific Corporation R&D Center; Yongin, Republic of Korea; Division of Pathology; Department of Oral Diagnostic Sciences; School of Dentistry; Showa University, Shinagawa, Japan.
authors.forename: Bum-Ho
authors.initials: BH
authors.lastname: Bin
authors.affiliation: Deutsches Rheuma-Forschungszentrum, Berlin; Osteoimmunology; Berlin, Germany; RIKEN Center for Integrative Medical Sciences; Yokohama, Japan.
authors.forename: Shintaro
authors.initials: S
authors.lastname: Hojyo
authors.affiliation: Bioscience Research Institute; Amorepacific Corporation R&D Center ; Yongin, Republic of Korea.
authors.forename: Tae
authors.initials: T
authors.lastname: Ryong Lee
authors.affiliation: Division of Pathology; Department of Oral Diagnostic Sciences; School of Dentistry; Showa University, Shinagawa, Japan; RIKEN Center for Integrative Medical Sciences; Yokohama, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukada
keywords: SCD-EDS; SLC39A13; ZIP13; corrector; degradation; pathogenic mutation; potentiator; zinc transporter