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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
Low intracellular iron increases the stability of matriptase-2.
Zhao N, Nizzi CP, Anderson SA, Wang J, Ueno A, Tsukamoto H, Eisenstein RS, Enns CA, Zhang AS. Zhao N, et al. J Biol Chem. 2015 Feb 13;290(7):4432-46. doi: 10.1074/jbc.M114.611913. Epub 2014 Dec 30. J Biol Chem. 2015. PMID: 25550162 Free PMC article.