Molecular pathogenesis of Spondylocheirodysplastic Ehlers‐Danlos syndrome caused by mutant ZIP13 proteins

Autor: 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, Toshiyuki Fukada

Publikováno v: EMBO Molecular Medicine, Vol 6, Iss 8, Pp 1028-1042 (2014)

Abstract The zinc transporter protein ZIP13 plays critical 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). Here, w

Externí odkaz: https://doaj.org/article/d56a1282974b4ec881ea2f3e7ff15ae2

The PP-motif in luminal loop 2 of ZnT transporters plays a pivotal role in TNAP activation

Autor: Israel Sekler, Yusaku Miyamae, Masaya Nagao, Eitan Hoch, Kazuhisa Fukue, Tokuji Tsuji, Dax Fu, Ayako Fukunaka, Taiho Kambe, Seiji Masuda, Taka-aki Takeda, Takashi Fujiwara, Chengfeng Merriman, Yukina Nishito, Shigeyuki Fujimoto

Publikováno v: Biochemical Journal. 473:2611-2621

Secretory and membrane-bound zinc-requiring enzymes are thought to be activated by binding zinc in the early secretory pathway. One such enzyme, tissue-non-specific alkaline phosphatase (TNAP), is activated through a two-step mechanism, via protein s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d7f2de1041fb43fbda1ec78032375a
https://doi.org/10.1042/bcj20160324

List of Contributors

Autor: Abedalrazaq Alkukhun, Gregory Jon Anderson, Tayze T. Antunes, Michael Aschner, Terry J. Aspray, Thomas Bartnikas, Abdel A. Belaidi, Roberto Bravo-Sagua, Gregory A. Brent, George J. Brewer, Mona S. Calvo, Bradley Allen Carlson, Wen-Hsing Cheng, Sylvia Christakos, Mariana Cifuentes, James F. Collins, Puneet Dhawan, Ralph Marsland Duckworth, Lynnette Robyn Ferguson, David Michael Frazer, Toshiyuki Fukada, Kazuhisa Fukue, Priyanka V. Gangodkar, Eduardo Garcia-Fuentes, Michael D. Garrick, John P. Geibel, Fayez K. Ghishan, Vadim N. Gladyshev, A. Grubman, Thomas E. Gunter, Hajo Haase, Dolph Lee Hatfield, Ka He, Carolina Herrera, Kayo Ikuta, Francisco J. Rios, Sami Judeeba, Lillian J. Juttukonda, Taiho Kambe, Ichiro Kaneko, Yujian James Kang, Nishi Karunasinghe, Anuradha V. Khadilkar, Pawel R. Kiela, Katerine S. Knust, Mitchell D. Knutson, Yuko Komiya, Daniel Laubitz, Sergio Lavandero, Xin Gen Lei, Angela M. Leung, Anna Milanesi, Ken-ichi Miyamoto, Augusto C. Montezano, Stefano Mora, Armando Salim Munoz-Abraham, Forrest Harold Nielsen, Thirayost Nimmanon, Yukina Nishito, Tanara Vieira Peres, Anne-Laure Perraud, Michael Pettiglio, Nikhil D. Phadke, Ananda S. Prasad, Vijayababu M. Radhakrishnan, Marcela Reyes, Loren Warren Runnels, Carsten Schmitz, Guenter Schwarz, Hiroko Segawa, Yatrik Madhukar Shah, Eric P. Skaar, Laura Soldati, Michael Stowasser, Sawako Tatsumi, Kathryn M. Taylor, Ryuta Tobe, Rhian M. Touyz, Cari Lewis Tsinovoi, Petra Akiko Tsuji, Jaime Uribarri, Inés Velasco, Vaishali Veldurthy, Giuseppe Vezzoli, John Bertram Vincent, Tao Wang, Ran Wei, Marianne Wessling-Resnick, A.R. White, Ying Xiao, Xiang Xue, Hironori Yamamoto, Wen Yin, Wenjing Zhang, Fatemeh Vida Zohoori

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c4163b40ff28dadf005ba3c2eabf115
https://doi.org/10.1016/b978-0-12-802168-2.01002-2

Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency

Autor: Yukina Nishito, Yoshie Kibihara, Hiroshi Narita, Riko Ishida, Kazuhisa Fukue, Risa Tamagawa-Mineoka, Taiho Kambe, Naoya Itsumura, Akiko Miyata, Hiroko Kodama, Norito Katoh, Kenji Fukushima

Publikováno v: Pediatric research. 80(4)

Infants are vulnerable to zinc deficiency. Thus, abnormally low breast milk zinc levels cause transient neonatal zinc deficiency (TNZD) in breast-fed infants. TNZD has been considered to be rare because of a paucity of citations in the published lite

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ac7b9b347d8bd7084a6f0c4b54727b
https://pubmed.ncbi.nlm.nih.gov/27304099

Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins

Autor: Daehee Hwang, Ayako Fukunaka, Taiho Kambe, Tomomi Kimura-Someya, Toshiaki Hosaka, Hiroki Kano, Wakana Ohashi, Dong-Hwa Choi, Jinhyuk Bhin, Tae Ryong Lee, Shiro Ikegawa, Mariko Ikeda, Yoshio Fujitani, Shigeyuki Yokoyama, Juyeon Seo, Andrea Superti-Furga, Shintaro Hojyo, Kazuhisa Fukue, Mikako Shirouzu, Tomohiro Miyai, Bum-Ho Bin, Yeon-Ju Nam, Toshiyuki Fukada, Eun-Gyung Cho, Kyu-Han Kim

Publikováno v: EMBO Molecular Medicine
Embo Molecular Medicine, vol. 6, no. 8, pp. 1028-1042
EMBO MOLECULAR MEDICINE(6): 8

The zinc transporter protein ZIP13 plays critical 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). Here, we report the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d56890d0c4a3e7fe0d1ded77418d73
https://pubmed.ncbi.nlm.nih.gov/25007800