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Items: 1 to 20 of 119

1.

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM.

Hum Mutat. 2011 Aug;32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12.

PMID:
21542062
2.

Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.

Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, Glauser L, Moore DJ.

PLoS One. 2012;7(6):e39942. doi: 10.1371/journal.pone.0039942. Epub 2012 Jun 29.

3.

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE.

Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18.

PMID:
21696388
4.

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C.

Nat Genet. 2006 Oct;38(10):1184-91. Epub 2006 Sep 10.

PMID:
16964263
5.

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.

Ugolino J, Fang S, Kubisch C, Monteiro MJ.

Hum Mol Genet. 2011 Sep 15;20(18):3565-77. doi: 10.1093/hmg/ddr274. Epub 2011 Jun 10.

6.

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

Grünewald A, Arns B, Seibler P, Rakovic A, Münchau A, Ramirez A, Sue CM, Klein C.

Neurobiol Aging. 2012 Aug;33(8):1843.e1-7. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31.

PMID:
22296644
7.

ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.

Matsui H, Sato F, Sato S, Koike M, Taruno Y, Saiki S, Funayama M, Ito H, Taniguchi Y, Uemura N, Toyoda A, Sakaki Y, Takeda S, Uchiyama Y, Hattori N, Takahashi R.

FEBS Lett. 2013 May 2;587(9):1316-25. doi: 10.1016/j.febslet.2013.02.046. Epub 2013 Mar 13.

8.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R.

Brain. 2017 Feb;140(Pt 2):287-305. doi: 10.1093/brain/aww307.

PMID:
28137957
9.

Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove.

Dehay B, Martinez-Vicente M, Ramirez A, Perier C, Klein C, Vila M, Bezard E.

Autophagy. 2012 Sep;8(9):1389-91. doi: 10.4161/auto.21011. Epub 2012 Aug 13.

10.

Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.

Radi E, Formichi P, Di Maio G, Battisti C, Federico A.

J Cell Mol Med. 2012 Aug;16(8):1916-23. doi: 10.1111/j.1582-4934.2011.01488.x.

11.

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A.

Mov Disord. 2010 Sep 15;25(12):1929-37. doi: 10.1002/mds.22996.

PMID:
20683840
12.

Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.

Tsunemi T, Krainc D.

Hum Mol Genet. 2014 Jun 1;23(11):2791-801. doi: 10.1093/hmg/ddt572. Epub 2013 Dec 13.

13.

[Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism].

He D, Guo JF, Wang L, Xiao ZQ, Nie LL, Zhang XW, Tang BS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):567-70. doi: 10.3760/cma.j.issn.1003-9406.2009.05.020. Chinese.

PMID:
19806583
14.

Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.

Tan J, Zhang T, Jiang L, Chi J, Hu D, Pan Q, Wang D, Zhang Z.

J Biol Chem. 2011 Aug 26;286(34):29654-62. doi: 10.1074/jbc.M111.233874. Epub 2011 Jul 1.

15.

α-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9).

Daniel G, Musso A, Tsika E, Fiser A, Glauser L, Pletnikova O, Schneider BL, Moore DJ.

Neurobiol Dis. 2015 Jan;73:229-43. doi: 10.1016/j.nbd.2014.10.007. Epub 2014 Oct 18.

PMID:
25461191
16.

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V.

Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21.

17.

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML.

Neurobiol Dis. 2011 Jun;42(3):468-74. doi: 10.1016/j.nbd.2011.02.009. Epub 2011 Feb 26.

PMID:
21362476
18.

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network, Bonifati V.

Neurology. 2007 May 8;68(19):1557-62.

PMID:
17485642
19.

Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.

Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D.

J Neurosci. 2012 Mar 21;32(12):4240-6. doi: 10.1523/JNEUROSCI.5575-11.2012.

20.

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Yang X, Xu Y.

Biomed Res Int. 2014;2014:371256. doi: 10.1155/2014/371256. Epub 2014 Aug 14. Review.

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