Citations for
1CDPH, SLC30A10
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.
Zaki MS, Issa MY, Elbendary HM, El-Karaksy H, Hosny H, Ghobrial C, El Safty A, El-Hennawy A, Oraby A, Selim L, Abdel-Hamid MS.
Clin Genet 93(4):905-912. doi: 10.1111/cge.13184. Epub 2018 Feb 11. 2018
2SLC30A10, SLC39A14
Inherited Disorders of Manganese Metabolism.
Zogzas CE, Mukhopadhyay S.
Adv Neurobiol 18:35-49. doi: 10.1007/978-3-319-60189-2_3. Review. 2017
3SLC30A10, SLC39A14
Hypothyroidism induced by loss of the manganese efflux transporter SLC30A10 may be explained by reduced thyroxine production.
Liu C, Hutchens S, Jursa T, Shawlot W, Polishchuk EV, Polishchuk RS, Dray BK, Gore AC, Aschner M, Smith DR, Mukhopadhyay S.
J Biol Chem 292(40):16605-16615. doi: 10.1074/jbc.M117.804989. Epub 2017 Aug 31. 2017
4SLC30A10
Vitamin D3 transactivates the zinc and manganese transporter SLC30A10 via the Vitamin D receptor.
Claro da Silva T, Hiller C, Gai Z, Kullak-Ublick GA.
J Steroid Biochem Mol Biol 163:77-87. doi: 10.1016/j.jsbmb.2016.04.006. Epub 2016 Apr 20. 2016
5SLC30A10
Structural Elements in the Transmembrane and Cytoplasmic Domains of the Metal Transporter SLC30A10 Are Required for Its Manganese Efflux Activity.
Zogzas CE, Aschner M, Mukhopadhyay S.
J Biol Chem 291(31):15940-57. doi: 10.1074/jbc.M116.726935. Epub 2016 Jun 15. 2016
6CDPH, SLC30A10
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
Quadri M, Kamate M, Sharma S, Olgiati S, Graafland J, Breedveld GJ, Kori I, Hattiholi V, Jain P, Aneja S, Kumar A, Gulati P, Goel M, Talukdar B, Bonifati V.
Mov Disord 30(7):996-1001. doi: 10.1002/mds.26202. Epub 2015 Mar 17. 2015
7SLC30A10
SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity.
Leyva-Illades D, Chen P, Zogzas CE, Hutchens S, Mercado JM, Swaim CD, Morrisett RA, Bowman AB, Aschner M, Mukhopadhyay S.
J Neurosci 34(42):14079-95. doi: 10.1523/JNEUROSCI.2329-14.2014. 2014
8CDPH, SLC30A10
Manganese efflux in Parkinsonism: insights from newly characterized SLC30A10 mutations.
DeWitt MR, Chen P, Aschner M.
Biochem Biophys Res Commun 432(1):1-4. doi: 10.1016/j.bbrc.2013.01.058. Epub 2013 Jan 26. 2013
9CDPH, SLC30A10
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease.
Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V.
Am J Hum Genet 90(3):467-477. Epub 2012 Feb 16. 2012
10CDPH, SLC30A10
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.
Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Kling Chong WK, Mills PB.
Am J Hum Genet 90(3):457-466. Epub 2012 Feb 16. 2012
11SLC30A10, SLC30A5
Identification of the human zinc transcriptional regulatory element (ZTRE): a palindromic protein-binding DNA sequence responsible for zinc-induced transcriptional repression.
Coneyworth LJ, Jackson KA, Tyson J, Bosomworth HJ, van der Hagen E, Hann GM, Ogo OA, Swann DC, Mathers JC, Valentine RA, Ford D.
J Biol Chem 287(43):36567-81. doi: 10.1074/jbc.M112.397000. Epub 2012 Aug 17. 2012
12CDPH, SLC30A10
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
Stamelou M, Tuschl K, Chong WK, Burroughs AK, Mills PB, Bhatia KP, Clayton PT.
Mov Disord 27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23. 2012
13SLC39A2, SLC30A2, SLC30A3, SLC30A10, SERPINF1
Expression of ZnT and ZIP zinc transporters in the human RPE and their regulation by neurotrophic factors.
Leung KW, Liu M, Xu X, Seiler MJ, Barnstable CJ, Tombran-Tink J.
Invest Ophthalmol Vis Sci 49(3):1221-31. 2008
14SLC30A6, SLC30A7, SLC30A8, SLC30A10, SLC30A3
In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression.
Seve M, Chimienti F, Devergnas S, Favier A.
BMC Genomics 5(1):32. 2004