BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

273 related articles for article (PubMed ID: 21724849)

  • 1. 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; 286(34):29654-62. PubMed ID: 21724849
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.
    Park JS; Sue CM
    Curr Protein Pept Sci; 2017; 18(7):725-732. PubMed ID: 26965689
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 21542062
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 22768177
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 25461191
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 22296644
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 22117566
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 20(18):3565-77. PubMed ID: 21665991
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.
    Kırımtay K; Temizci B; Gültekin M; Yapıcı Z; Karabay A
    Brain Res; 2021 Jan; 1750():147167. PubMed ID: 33091395
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.
    Marcos AL; Corradi GR; Mazzitelli LR; Casali CI; Fernández Tome MDC; Adamo HP; de Tezanos Pinto F
    Biochim Biophys Acta Biomembr; 2019 Oct; 1861(10):182993. PubMed ID: 31132336
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 2017 May; 26(9):1656-1669. PubMed ID: 28334751
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.
    Park JS; Koentjoro B; Davis RL; Sue CM
    Parkinsonism Relat Disord; 2016 Jun; 27():67-73. PubMed ID: 27039055
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 2012 Apr; 21(8):1725-43. PubMed ID: 22186024
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 2016 Dec; 186(12):3074-3082. PubMed ID: 27770614
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 21696388
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Overexpression of human Atp13a2Isoform-1 protein protects cells against manganese and starvation-induced toxicity.
    Ugolino J; Dziki KM; Kim A; Wu JJ; Vogel BE; Monteiro MJ
    PLoS One; 2019; 14(8):e0220849. PubMed ID: 31393918
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function.
    Anand N; Holcom A; Broussalian M; Schmidt M; Chinta SJ; Lithgow GJ; Andersen JK; Chamoli M
    Neurobiol Dis; 2020 Jun; 139():104786. PubMed ID: 32032734
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 22885599
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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(2):287-305. PubMed ID: 28137957
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.
    Inzelberg R; Estrada-Cuzcano A; Laitman Y; De Vriendt E; Friedman E; Jordanova A
    J Parkinsons Dis; 2018; 8(3):399-403. PubMed ID: 29966207
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.