| 1 | ATP13A2, PARK9
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| Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice.
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| Sato S, Koike M, Funayama M, Ezaki J, Fukuda T, Ueno T, Uchiyama Y, Hattori N.
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| Am J Pathol 186(12):3074-3082. doi: 10.1016/j.ajpath.2016.08.006. Epub 2016 Oct 19.
2016
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| 2 | ATP13A2, PARK9
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| ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein.
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| Tsunemi T, Hamada K, Krainc D.
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| J Neurosci 34(46):15281-7. doi: 10.1523/JNEUROSCI.1629-14.2014.
2014
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| 3 | ATP13A2, PARK9
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| ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.
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| 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.
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| FEBS Lett 587(9):1316-25. doi: 10.1016/j.febslet.2013.02.046. Epub 2013 Mar 13.
2013
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| 4 | ATP13A2, PARK9
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| Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
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| Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, Glauser L, Moore DJ.
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| PLoS One 7(6):e39942. doi: 10.1371/journal.pone.0039942. Epub 2012 Jun 29.
2012
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| 5 | ATP13A2, PARK9
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| Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.
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| Dehay B, Ramirez A, Martinez-Vicente M, Perier C, Canron MH, Doudnikoff E, Vital A, Vila M, Klein C, Bezard E.
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| Proc Natl Acad Sci U S A 109(24):9611-6. doi: 10.1073/pnas.1112368109. Epub 2012 May 30.
2012
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| 6 | ATP13A2, PARK9
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| Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.
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| Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D.
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| J Neurosci 32(12):4240-6. doi: 10.1523/JNEUROSCI.5575-11.2012.
2012
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| 7 | ATP13A2, PARK9
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| ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
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| Grünewald A, Arns B, Seibler P, Rakovic A, Münchau A, Ramirez A, Sue CM, Klein C.
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| Neurobiol Aging 33(8):1843.e1-7. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31.
2012
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| 8 | ATP13A2, PARK9
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| Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.
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| Radi E, Formichi P, Di Maio G, Battisti C, Federico A.
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| J Cell Mol Med 16(8):1916-23. doi: 10.1111/j.1582-4934.2011.01488.x.
2012
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| 9 | ATP13A2, PARK9
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| PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.
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| Ramonet D, Podhajska A, Stafa K, Sonnay S, Trancikova A, Tsika E, Pletnikova O, Troncoso JC, Glauser L, Moore DJ.
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| Hum Mol Genet 21(8):1725-43. doi: 10.1093/hmg/ddr606. Epub 2011 Dec 20.
2012
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| 10 | ATP13A2, PARK9
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| Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
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| Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE.
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| Clin Genet 82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18.
2012
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| 11 | ATP13A2, PARK9
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| Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
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| Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM.
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| Hum Mutat 32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12.
2011
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| 12 | ATP13A2, PARK9
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| Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
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| Ugolino J, Fang S, Kubisch C, Monteiro MJ.
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| Hum Mol Genet 20(18):3565-77. doi: 10.1093/hmg/ddr274. Epub 2011 Jun 10.
2011
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| 13 | ATP13A2, PARK9
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| Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
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| Brüggemann N, Hagenah J, Reetz K, Schmidt A, Kasten M, Buchmann I, Eckerle S, Bähre M, Münchau A, Djarmati A, van der Vegt J, Siebner H, Binkofski F, Ramirez A, Behrens MI, Klein C.
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| Arch Neurol 67(11):1357-63. doi: 10.1001/archneurol.2010.281.
2010
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| 14 | ATP13A2, PARK9
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| ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
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| Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP.
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| Mov Disord 25(8):979-84. doi: 10.1002/mds.22947.
2010
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| 15 | ATP13A2, PARK9
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| Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
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| Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A.
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| Mov Disord 24(3):429-33. doi: 10.1002/mds.22399.
2009
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| 16 | ATP13A2, PARK9
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| PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.
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| Ning YP, Kanai K, Tomiyama H, Li Y, Funayama M, Yoshino H, Sato S, Asahina M, Kuwabara S, Takeda A, Hattori T, Mizuno Y, Hattori N.
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| Neurology 70(16 Pt 2):1491-3. No abstract available. PMID: 18413573 2008
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| 17 | ATP13A2, PARK9
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| ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
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| 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; The Italian Parkinson Genetics Network, Bonifati V.
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| Neurology 68(19):1557-62. 2007
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| 18 | ATP13A2, PARK9
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| Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
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| Ramirez A, Heimbach A, Grundemann 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.
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| Nat Genet 38(10):1184-91. Epub 2006 Sep 10. 2006
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| 19 | PARK1, PARK3, PARK4, PARK5, PARK6, PARK7, PARK8, PARK9, PRKN
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| Molecular pathogenesis of Parkinson's disease.
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| Gandhi S, Wood NW.
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| Hum Mol Genet 14(18):2749-55. Epub 2005 Aug 26. 2005
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| 20 | PARK1, PARK10, PARK11, PARK3, PARK5, PARK6, PARK7, PARK8, PARK9, PRKN
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| Parkin genetics: one model for Parkinson's disease.
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| Mata IF, Lockhart PJ, Farrer MJ.
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| Hum Mol Genet 13 Spec No 1:R127-33. Epub 2004 Feb 19. 2004
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| 21 | AD1, AD2, AD3, AD4, AD5, AD6, AD9, PARK1, PARK11, PARK3, PARK4, PARK5, PARK6, PARK7, PARK8, PARK9, PRKN
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| Chasing genes in Alzheimer's and Parkinson's disease.
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| Bertoli-Avella AM, Oostra BA, Heutink P.
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| Hum Genet 114(5):413-38. Epub 2004 Mar 04. 2004
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| 22 | PARK9
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| Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.
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| Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG.
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| J Med Genet 38(10):680-2. 2001
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| 23 | PARK9
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| Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.
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| Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M.
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| Acta Neurol Scand 89(5):347-52. 1994
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