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Items: 1 to 20 of 107

1.

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, Chong WK, Mills PB.

Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16.

2.

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. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16.

3.

Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.

Mukhtiar K, Ibrahim S, Tuschl K, Mills P.

Brain Dev. 2016 Oct;38(9):862-5. doi: 10.1016/j.braindev.2016.04.005. Epub 2016 Apr 23.

PMID:
27117033
4.

Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis.

Xia Z, Wei J, Li Y, Wang J, Li W, Wang K, Hong X, Zhao L, Chen C, Min J, Wang F.

PLoS Genet. 2017 Jul 10;13(7):e1006892. doi: 10.1371/journal.pgen.1006892. eCollection 2017 Jul.

5.

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. 2012 Sep 1;27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23.

6.

Manganese and the brain.

Tuschl K, Mills PB, Clayton PT.

Int Rev Neurobiol. 2013;110:277-312. doi: 10.1016/B978-0-12-410502-7.00013-2. Review.

PMID:
24209443
7.

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. 2015 Jun;30(7):996-1001. doi: 10.1002/mds.26202. Epub 2015 Mar 17.

PMID:
25778823
8.

Manganese efflux in Parkinsonism: insights from newly characterized SLC30A10 mutations.

DeWitt MR, Chen P, Aschner M.

Biochem Biophys Res Commun. 2013 Mar 1;432(1):1-4. doi: 10.1016/j.bbrc.2013.01.058. Epub 2013 Jan 26.

9.

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. 2014 Oct 15;34(42):14079-95. doi: 10.1523/JNEUROSCI.2329-14.2014.

10.

Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

Avelino MA, Fusão EF, Pedroso JL, Arita JH, Ribeiro RT, Pinho RS, Tuschl K, Barsottini OG, Masruha MR.

J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4.

PMID:
24746291
11.

Metal Transporter Zip14 (Slc39a14) Deletion in Mice Increases Manganese Deposition and Produces Neurotoxic Signatures and Diminished Motor Activity.

Aydemir TB, Kim MH, Kim J, Colon-Perez LM, Banan G, Mareci TH, Febo M, Cousins RJ.

J Neurosci. 2017 Jun 21;37(25):5996-6006. doi: 10.1523/JNEUROSCI.0285-17.2017. Epub 2017 May 23.

PMID:
28536273
12.

Pathology of inherited manganese transporter deficiency.

Lechpammer M, Clegg MS, Muzar Z, Huebner PA, Jin LW, Gospe SM Jr.

Ann Neurol. 2014 Apr;75(4):608-12. doi: 10.1002/ana.24131. Epub 2014 Apr 14.

PMID:
24599576
13.

Common Polymorphisms in the Solute Carrier SLC30A10 are Associated With Blood Manganese and Neurological Function.

Wahlberg K, Kippler M, Alhamdow A, Rahman SM, Smith DR, Vahter M, Lucchini RG, Broberg K.

Toxicol Sci. 2016 Feb;149(2):473-83. doi: 10.1093/toxsci/kfv252. Epub 2015 Dec 1.

14.

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. 2016 Jul 29;291(31):15940-57. doi: 10.1074/jbc.M116.726935. Epub 2016 Jun 15.

15.

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, Chong WK, Mills PB.

Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015. No abstract available.

16.

Inherited manganism.

Ribeiro RT, dos Santos-Neto D, Braga-Neto P, Barsottini OG.

Clin Neurol Neurosurg. 2013 Aug;115(8):1536-8. doi: 10.1016/j.clineuro.2012.12.032. Epub 2013 Jan 28. No abstract available.

PMID:
23369405
17.

Deficiency in the manganese efflux transporter SLC30A10 induces severe hypothyroidism in mice.

Hutchens S, Liu C, Jursa T, Shawlot W, Chaffee BK, Yin W, Gore AC, Aschner M, Smith DR, Mukhopadhyay S.

J Biol Chem. 2017 Jun 9;292(23):9760-9773. doi: 10.1074/jbc.M117.783605. Epub 2017 May 1.

PMID:
28461334
18.

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.

Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.

19.

Are there common biochemical and molecular mechanisms controlling manganism and parkisonism.

Roth JA.

Neuromolecular Med. 2009;11(4):281-96. doi: 10.1007/s12017-009-8088-8. Epub 2009 Sep 16. Review.

PMID:
19757210
20.

SLC30A10: A novel manganese transporter.

Chen P, Bowman AB, Mukhopadhyay S, Aschner M.

Worm. 2015 May 11;4(3):e1042648. doi: 10.1080/21624054.2015.1042648. eCollection 2015 Jul-Sep.

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