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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium; Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R. Boycott KM, et al. Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. Am J Hum Genet. 2015. PMID: 26637978 Free PMC article.
ZIP8 regulates host defense through zinc-mediated inhibition of NF-κB.
Liu MJ, Bao S, Gálvez-Peralta M, Pyle CJ, Rudawsky AC, Pavlovicz RE, Killilea DW, Li C, Nebert DW, Wewers MD, Knoell DL. Liu MJ, et al. Cell Rep. 2013 Feb 21;3(2):386-400. doi: 10.1016/j.celrep.2013.01.009. Epub 2013 Feb 9. Cell Rep. 2013. PMID: 23403290 Free PMC article.
29 results