Citations for
1ATP13A2
ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.
Demirsoy S, Martin S, Motamedi S, van Veen S, Holemans T, Van den Haute C, Jordanova A, Baekelandt V, Vangheluwe P, Agostinis P.
Hum Mol Genet 26(9):1656-1669. doi: 10.1093/hmg/ddx070. 2017
2ATP13A2, SPG78
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 140(Pt 2):287-305. doi: 10.1093/brain/aww307. 2017
3ATP13A2, PARK9
Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice.
Sato S, Koike M, Funayama M, Ezaki J, Fukuda T, Ueno T, Uchiyama Y, Hattori N.
Am J Pathol 186(12):3074-3082. doi: 10.1016/j.ajpath.2016.08.006. Epub 2016 Oct 19. 2016
4ATP13A2, SNCA
A familial ATP13A2 mutation enhances alpha-synuclein aggregation and promotes cell death.
Lopes da Fonseca T, Pinho R, Outeiro TF.
Hum Mol Genet 25(14):2959-2971. Epub 2016 Jun 8. 2016
5ATP13A2, SYT11
The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway.
Bento CF, Ashkenazi A, Jimenez-Sanchez M, Rubinsztein DC.
Nat Commun 7:11803. doi: 10.1038/ncomms11803. 2016
6ATP13A2, EGLN1, HIF1A
Regulation of ATP13A2 via PHD2-HIF1α Signaling Is Critical for Cellular Iron Homeostasis: Implications for Parkinson's Disease.
Rajagopalan S, Rane A, Chinta SJ, Andersen JK.
J Neurosci 36(4):1086-95. doi: 10.1523/JNEUROSCI.3117-15.2016. 2016
7ATP13A2
A lipid switch unlocks Parkinson's disease-associated ATP13A2.
Holemans T, Sørensen DM, van Veen S, Martin S, Hermans D, Kemmer GC, Van den Haute C, Baekelandt V, Günther Pomorski T, Agostinis P, Wuytack F, Palmgren M, Eggermont J, Vangheluwe P.
Proc Natl Acad Sci U S A 112(29):9040-5. doi: 10.1073/pnas.1508220112. Epub 2015 Jul 1. 2015
8ATP13A2
The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity.
Rinaldi DE, Corradi GR, Cuesta LM, Adamo HP, de Tezanos Pinto F.
Biochim Biophys Acta 1848(8):1646-55. doi: 10.1016/j.bbamem.2015.04.008. Epub 2015 Apr 23. 2015
9ATP13A2, PARK9
ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein.
Tsunemi T, Hamada K, Krainc D.
J Neurosci 34(46):15281-7. doi: 10.1523/JNEUROSCI.1629-14.2014. 2014
10ATP13A2
Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes.
Kong SM, Chan BK, Park JS, Hill KJ, Aitken JB, Cottle L, Farghaian H, Cole AR, Lay PA, Sue CM, Cooper AA.
Hum Mol Genet 23(11):2816-33. doi: 10.1093/hmg/ddu099. Epub 2014 Mar 6. 2014
11ATP13A2
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.
Park JS, Koentjoro B, Veivers D, Mackay-Sim A, Sue CM.
Hum Mol Genet 23(11):2802-15. doi: 10.1093/hmg/ddt623. Epub 2014 Jan 7. 2014
12ATP13A2
ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies.
Murphy KE, Cottle L, Gysbers AM, Cooper AA, Halliday GM.
Acta Neuropathol Commun 1:11. doi: 10.1186/2051-5960-1-11. 2013
13ATP13A2, PARK9
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 587(9):1316-25. doi: 10.1016/j.febslet.2013.02.046. Epub 2013 Mar 13. 2013
14ATP13A2, CLN12
Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.
Schultheis PJ, Fleming SM, Clippinger AK, Lewis J, Tsunemi T, Giasson B, Dickson DW, Mazzulli JR, Bardgett ME, Haik KL, Ekhator O, Chava AK, Howard J, Gannon M, Hoffman E, Chen Y, Prasad V, Linn SC, Tamargo RJ, Westbroek W, Sidransky E, Krainc D, Shull GE.
Hum Mol Genet 22(10):2067-82. doi: 10.1093/hmg/ddt057. Epub 2013 Feb 7. 2013
15ATP13A2
Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake.
De La Hera DP, Corradi GR, Adamo HP, De Tezanos Pinto F.
Biochem J 450(1):47-53. doi: 10.1042/BJ20120739. 2013
16ATP13A2, PARK9
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 7(6):e39942. doi: 10.1371/journal.pone.0039942. Epub 2012 Jun 29. 2012
17ATP13A2, PARK9
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.
Dehay B, Ramirez A, Martinez-Vicente M, Perier C, Canron MH, Doudnikoff E, Vital A, Vila M, Klein C, Bezard E.
Proc Natl Acad Sci U S A 109(24):9611-6. doi: 10.1073/pnas.1112368109. Epub 2012 May 30. 2012
18ATP13A2
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.
Usenovic M, Knight AL, Ray A, Wong V, Brown KR, Caldwell GA, Caldwell KA, Stagljar I, Krainc D.
Hum Mol Genet 21(17):3785-94. doi: 10.1093/hmg/dds206. Epub 2012 May 29. 2012
19ATP13A2, PARK9
Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.
Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D.
J Neurosci 32(12):4240-6. doi: 10.1523/JNEUROSCI.5575-11.2012. 2012
20ATP13A2, CLN12
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ.
Hum Mol Genet 21(12):2646-50. doi: 10.1093/hmg/dds089. Epub 2012 Mar 2. 2012
21ATP13A2, PARK9
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 33(8):1843.e1-7. doi: 10.1016/j.neurobiolaging.2011.12.035. Epub 2012 Jan 31. 2012
22ATP13A2
ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.
Gusdon AM, Zhu J, Van Houten B, Chu CT.
Neurobiol Dis 45(3):962-72. doi: 10.1016/j.nbd.2011.12.015. Epub 2011 Dec 13. 2012
23ATP13A2, PARK9
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 16(8):1916-23. doi: 10.1111/j.1582-4934.2011.01488.x. 2012
24ATP13A2, PARK9
PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.
Ramonet D, Podhajska A, Stafa K, Sonnay S, Trancikova A, Tsika E, Pletnikova O, Troncoso JC, Glauser L, Moore DJ.
Hum Mol Genet 21(8):1725-43. doi: 10.1093/hmg/ddr606. Epub 2011 Dec 20. 2012
25ATP13A2
Hypoxia regulation of ATP13A2 (PARK9) gene transcription.
Xu Q, Guo H, Zhang X, Tang B, Cai F, Zhou W, Song W.
J Neurochem 122(2):251-9. doi: 10.1111/j.1471-4159.2012.07676.x. Epub 2012 Feb 17. 2012
26ATP13A2, PARK9
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 82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18. 2012
27ATP13A2, PARK9
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 32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12. 2011
28ATP13A2
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
Wöhlke A, Philipp U, Bock P, Beineke A, Lichtner P, Meitinger T, Distl O.
PLoS Genet 7(10):e1002304. doi: 10.1371/journal.pgen.1002304. Epub 2011 Oct 13. 2011
29ATP13A2, PARK9
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 20(18):3565-77. doi: 10.1093/hmg/ddr274. Epub 2011 Jun 10. 2011
30ATP13A2
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 42(3):468-74. doi: 10.1016/j.nbd.2011.02.009. Epub 2011 Feb 26. 2011
31ATP13A2, PARK9
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
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.
Arch Neurol 67(11):1357-63. doi: 10.1001/archneurol.2010.281. 2010
32ATP13A2, PARK9
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP.
Mov Disord 25(8):979-84. doi: 10.1002/mds.22947. 2010
33ATP13A2, PARK9
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
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.
Mov Disord 24(3):429-33. doi: 10.1002/mds.22399. 2009
34ATP13A2
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
Lin CH, Tan EK, Chen ML, Tan LC, Lim HQ, Chen GS, Wu RM.
Neurology 71(21):1727-32. 2008
35ATP13A2, PARK9
PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.
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.
Neurology 70(16 Pt 2):1491-3. No abstract available. PMID: 18413573 2008
36ATP13A2, PARK9
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; The Italian Parkinson Genetics Network, Bonifati V.
Neurology 68(19):1557-62. 2007
37ATP13A2, PARK9
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
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.
Nat Genet 38(10):1184-91. Epub 2006 Sep 10. 2006
38AADACL3, AADACL4, ADCK3, AGBL1, AGBL4, ANKRD13C, ANKRD45, ATP13A2, B3GALT2, B3GALT4, B3GALT6, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT6, BLZF1, BSDC1, C1orf100, C1orf101, C1orf103, C1orf104, C1orf110, C1orf115, C1orf120, C1orf122, C1orf123, C1orf126, C1orf130, C1orf31, C1orf35, C1orf49, C1orf51, C1orf53, C1orf54, C1orf64, C1orf65, C1orf74, C1orf95, C1orf97, CCDC76, CCDC76, CCT3, COL16A1, DDX59, DENND2D, DNALI1, DPM3, FAM131C, FAM167B, FAM176B, FAM76A, FAM78B, FHAD1, FMO4, GJC2, GLUL, GNPAT, GPR157, GPR161, GPR89A, GPR89B, GPR89C, HMGN2, HSPB7, IBA57, ITGB3BP, KIAA1107, KLHL20, MAN1A2, MAP1LC3C, METTL11B, MLK4, MRTO4, NFYC, OR2M3, OR2M7, OR2T12, OR2T33, OR2T34, OR4F16, PEX10, PLA2G2D, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PTCH2, RC3H1, RGS18, RIMKLA, SEP15, SLC35D1, SMYD2, STX6, TBX15, TRIM62, TTLL7, VASH2, WLS, ZBTB18, ZMYM1, ZNF436, ZNF642
The DNA sequence and biological annotation of human chromosome 1.
Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E.
Nature 441(7091):315-21. 2006
39ATP13A1, ATP13A2, ATP13A3, ATP13A4, ATP13A5
Characterization of the P5 subfamily of P-type transport ATPases in mice.
Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE.
Biochem Biophys Res Commun 323(3):731-8. 2004