ATP13A2

Summary

Gene Symbol: ATP13A2
Description: ATPase cation transporting 13A2
Alias: CLN12, HSA9947, KRPPD, PARK9, SPG78, cation-transporting ATPase 13A2, ATPase 13A2, ATPase type 13A2
Species: human
Products:     ATP13A2

Top Publications

  1. Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid L, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet. 2006;38:1184-91 pubmed
    ..describe loss-of-function mutations in a previously uncharacterized, predominantly neuronal P-type ATPase gene, ATP13A2, underlying an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia (..
  2. Ning Y, Kanai K, Tomiyama H, Li Y, Funayama M, Yoshino H, et al. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology. 2008;70:1491-3 pubmed publisher
  3. Paisan Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord. 2010;25:1791-800 pubmed publisher
    ..mapping and sequence analysis in families with complex parkinsonisms, we identified genetic defects in the ATP13A2 (1 family), PLA2G6 (1 family) FBXO7 (2 families), and SPG11 (1 family)...
  4. Usenovic M, Tresse E, Mazzulli J, Taylor J, Krainc D. Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity. J Neurosci. 2012;32:4240-6 pubmed publisher
    ..Mutations in lysosomal membrane protein ATP13A2 (PARK9) cause familial Kufor-Rakeb syndrome characterized by early-onset parkinsonism, pyramidal degeneration and ..
  5. Medici S, Peana M, Delogu L, Zoroddu M. Mn(II) and Zn(II) interactions with peptide fragments from Parkinson's disease genes. Dalton Trans. 2012;41:4378-88 pubmed publisher
    Two peptide sequences from PARK9 Parkinson's disease gene, ProAspGluLysHisGluLeu, (P(1)D(2)E(3)K(4)H(5)E(6)L(7)) (1) and PheCysGlyAspGlyAlaAsnAspCysGly (F(1)C(2)G(3)D(4)G(5)A(6)N(7)D(8)C(9)G(10)) (2) were tested for Mn(II), Zn(II) and Ca(..
  6. Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, et al. Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. PLoS ONE. 2012;7:e39942 pubmed publisher
    Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism...
  7. Eiberg H, Hansen L, Korbo L, Nielsen I, Svenstrup K, Bech S, et al. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). Clin Genet. 2012;82:256-63 pubmed publisher
    ..syndrome (KRS) is a rare autosomal recessive inherited juvenile parkinsonian syndrome caused by mutations in ATP13A2. We describe six patients from a consanguineous Greenlandic Inuit family, homozygous for a novel frame-shift ..
  8. Ugolino J, Fang S, Kubisch C, Monteiro M. Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. Hum Mol Genet. 2011;20:3565-77 pubmed publisher
    Mutations in ATP13A2 (PARK9) have been linked to juvenile parkinsonism with dementia or Kufor-Rakeb syndrome (KRS). The ATP13A2 gene encodes at least three protein isoforms that arise by alternate splicing...
  9. Farias F, Zeng R, Johnson G, Wininger F, Taylor J, Schnabel R, et al. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis. 2011;42:468-74 pubmed publisher
    ..3Mb region of canine chromosome 2 which contains canine ATP13A2. NCL-affected dogs were homozygous for a single-base deletion in ATP13A2, predicted to produce a frameshift and ..

More Information

Publications62

  1. Chan A, Baum L, Tang N, Lau C, Ng P, Hui K, et al. The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease. J Clin Neurosci. 2013;20:761-2 pubmed publisher
    The association between idiopathic Parkinson's disease (PD) and the ATP13A2 (PARK9) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial...
  2. Gusdon A, Zhu J, Van Houten B, Chu C. ATP13A2 regulates mitochondrial bioenergetics through macroautophagy. Neurobiol Dis. 2012;45:962-72 pubmed publisher
    Mitochondrial dysfunction and autophagy are centrally implicated in Parkinson's disease (PD). Mutations in ATP13A2, which encodes a lysosomal P-type ATPase of unknown function, cause a rare, autosomal recessive parkinsonian syndrome...
  3. Ramonet D, Podhajska A, Stafa K, Sonnay S, Trancikova A, Tsika E, et al. PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity. Hum Mol Genet. 2012;21:1725-43 pubmed publisher
    Mutations in the ATP13A2 gene (PARK9, OMIM 610513) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome and early-onset parkinsonism...
  4. Tan J, Zhang T, Jiang L, Chi J, Hu D, Pan Q, et al. Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. J Biol Chem. 2011;286:29654-62 pubmed publisher
    Mutations in the ATP13A2 gene are associated with Kufor-Rakeb syndrome (KRS) and are found also in patients with various other types of parkinsonism...
  5. Malakouti Nejad M, Shahidi G, Rohani M, Shojaee S, Hashemi M, Klotzle B, et al. Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features. Neurosci Lett. 2014;577:106-11 pubmed publisher
    ..mapping in two siblings affected with early onset Parkinson's disease (EOPD) and mutation screening of ATP13A2 in these and other Iranian EOPD patients...
  6. Zhu L, Luo X, Zhou Y, Li F, Yang Y, Ren Y, et al. Lack of association between three single nucleotide polymorphisms in the PARK9, PARK15, and BST1 genes and Parkinson's disease in the northern Han Chinese population. Chin Med J (Engl). 2012;125:588-92 pubmed
    ..three single nucleotide polymorphisms (SNPs) (rs4538475, rs11107 and rs12564040) in the BST1, PARK15 and PARK9 genes...
  7. Funayama M, Tomiyama H, Wu R, Ogaki K, Yoshino H, Mizuno Y, et al. Rapid screening of ATP13A2 variant with high-resolution melting analysis. Mov Disord. 2010;25:2434-7 pubmed publisher
    ..Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population...
  8. Santoro L, Breedveld G, Manganelli F, Iodice R, Pisciotta C, Nolano M, et al. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics. 2011;12:33-9 pubmed publisher
    Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal ..
  9. Vilariño Güell C, Soto A, Lincoln S, Ben Yahmed S, Kefi M, Heckman M, et al. ATP13A2 variability in Parkinson disease. Hum Mutat. 2009;30:406-10 pubmed publisher
    Recessively inherited mutations in ATP13A2 result in Kufor-Rakeb syndrome (KRS), whereas genetic variability and elevated ATP13A2 expression have been implicated in Parkinson disease (PD)...
  10. Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat M, et al. Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease. Mov Disord. 2009;24:429-33 pubmed publisher
    A role of ATP13A2 in early-onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late-onset Parkinson's disease (PD) remains unexplored...
  11. Schultheis P, Hagen T, O Toole K, Tachibana A, Burke C, McGill D, et al. Characterization of the P5 subfamily of P-type transport ATPases in mice. Biochem Biophys Res Commun. 2004;323:731-8 pubmed
    ..The intron/exon organization of Atp13a1 differs entirely from those of Atp13a2-5, which are closely related...
  12. Schneider S, Paisan Ruiz C, Quinn N, Lees A, Houlden H, Hardy J, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord. 2010;25:979-84 pubmed publisher
    ..KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations...
  13. Lin C, Tan E, Chen M, Tan L, Lim H, Chen G, et al. Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. Neurology. 2008;71:1727-32 pubmed publisher
    To assess the association of ATP13A2 gene mutation among patients with early onset Parkinson disease (EOPD, onset < 50 years) in ethnic Chinese population...
  14. Covy J, Waxman E, Giasson B. Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants. J Neurosci Res. 2012;90:2306-16 pubmed publisher
    Mutations in ATP13A2, which encodes a lysosomal P-type ATPase of unknown function, cause an autosomal recessive parkinsonian syndrome...
  15. Dehay B, Ramirez A, Martinez Vicente M, Perier C, Canron M, Doudnikoff E, et al. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proc Natl Acad Sci U S A. 2012;109:9611-6 pubmed publisher
    ..The ATP13A2 gene (locus PARK9) encodes the protein ATP13A2, a lysosomal type 5 P-type ATPase that is linked to autosomal ..
  16. Park J, Mehta P, Cooper A, Veivers D, Heimbach A, Stiller B, et al. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. Hum Mutat. 2011;32:956-64 pubmed publisher
    ..recessive juvenile or early-onset, levodopa responsive parkinsonism and has been associated with mutations in ATP13A2(also known as PARK9), a lysosomal type 5 P-type ATPase...
  17. Yang X, Xu Y. Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review. Biomed Res Int. 2014;2014:371256 pubmed publisher
    ..Autosomal recessive mutations in the genes Parkin, Pink1, DJ-1, ATP13A2, PLA2G6, and FBXO7 have been linked to PD susceptibility...
  18. Tsunemi T, Krainc D. Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation. Hum Mol Genet. 2014;23:2791-801 pubmed publisher
    Mutations in ATP13A2 (PARK9) cause Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementia. PARK9 belongs to type 5 P-type ATPase with its putative function as a cation transporter...
  19. Park J, Koentjoro B, Veivers D, Mackay Sim A, Sue C. Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction. Hum Mol Genet. 2014;23:2802-15 pubmed publisher
    Human ATP13A2 (PARK9), a lysosomal type 5 P-type ATPase, has been associated with autosomal recessive early-onset Parkinson's disease (PD)...
  20. Dehay B, Martinez Vicente M, Ramirez A, Perier C, Klein C, Vila M, et al. Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove. Autophagy. 2012;8:1389-91 pubmed publisher
    Mutations in ATP13A2 (PARK9) cause an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia called Kufor-Rakeb Syndrome (KRS)...
  21. He D, Guo J, Wang L, Xiao Z, Nie L, Zhang X, et al. [Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:567-70 pubmed publisher
    To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP)...
  22. Rentschler G, Covolo L, Haddad A, Lucchini R, Zoni S, Broberg K. ATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganese. Neurotoxicology. 2012;33:697-702 pubmed publisher
    ..Polymorphisms in the Parkinson-related gene ATPase type 13A2 (ATP13A2, also called PARK9: rs3738815, rs2076602, rs4920608, rs2871776 and rs2076600), and in the secretory ..
  23. Bras J, Verloes A, Schneider S, Mole S, Guerreiro R. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet. 2012;21:2646-50 pubmed publisher
    ..with typical NCL pathology in which we performed exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates with disease within the family...
  24. Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens M, Pawlack H, et al. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord. 2009;24:2104-11 pubmed publisher
    ..recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene...
  25. Matsui H, Sato F, Sato S, Koike M, Taruno Y, Saiki S, et al. ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons. FEBS Lett. 2013;587:1316-25 pubmed publisher
    ..b>ATP13A2 was identified as the causative gene in KRS...
  26. Kong S, Chan B, Park J, Hill K, Aitken J, Cottle L, et al. Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes. Hum Mol Genet. 2014;23:2816-33 pubmed publisher
    ..Increased expression of the P-type ATPase ion pump PARK9/ATP13A2 suppresses α-Synuclein toxicity in primary neurons...
  27. Fei Q, Cao L, Xiao Q, Zhang T, Zheng L, Wang X, et al. Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China. Neurosci Lett. 2010;475:61-3 pubmed publisher
    b>ATP13A2 (PARK9) mutations are related to Kufor-Rakeb syndrome (KRS). We performed genetic analysis of the Ala746Thr variant in an independent cohort of the patients with PD and healthy controls from mainland China...
  28. Di Fonzo A, Chien H, Socal M, Giraudo S, Tassorelli C, Iliceto G, et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology. 2007;68:1557-62 pubmed
    To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD)...
  29. Mohr S, Rudd K, Hu Y, Song W, Gilly Q, BUCKNER M, et al. Zinc Detoxification: A Functional Genomics and Transcriptomics Analysis in Drosophila melanogaster Cultured Cells. G3 (Bethesda). 2018;8:631-641 pubmed publisher
    ..in the zinc screen include orthologs of human disease-associated genes CTNS, PTPRN (also known as IA-2), and ATP13A2 (also known as PARK9)...
  30. Kammula E, Mötter J, Gorgels A, Jonas E, Hoffmann S, Willbold D. Brain transcriptome-wide screen for HIV-1 Nef protein interaction partners reveals various membrane-associated proteins. PLoS ONE. 2012;7:e51578 pubmed publisher
    ..We discuss the results with respect to many phenotypes observed in HIV infected cells and patients. The identified Nef interaction partners may help to further elucidate the molecular basis of HIV-related diseases. ..
  31. Sato S, Li Y, Hattori N. Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease. J Neural Transm (Vienna). 2017;124:1395-1400 pubmed publisher
    Genes encoding lysosomal proteins, such as ATP13A2 and GBA, are associated with familial Parkinson's disease (PD). Heterozygous mutations in GBA are strongly associated with familial PD...
  32. Lubbe S, Escott Price V, Gibbs J, Nalls M, Bras J, Price T, et al. Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet. 2016;25:5483-5489 pubmed publisher
    ..The effect of additional Mendelian variants in LRRK2 G2019S mutation carriers, of which ATP13A2 variation is particularly common, may account for some of the variation in penetrance...
  33. Zittel S, Kroeger J, van der Vegt J, Siebner H, Bruggemann N, Ramirez A, et al. Motor pathway excitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study. Parkinsonism Relat Disord. 2012;18:590-4 pubmed publisher
    ..PARK9), an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration caused by a mutation in the ATP13A2 gene, using transcranial magnetic stimulation (TMS)...
  34. Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, et al. Structural imaging in the presymptomatic stage of genetically determined parkinsonism. Neurobiol Dis. 2010;39:402-8 pubmed publisher
    ..controls, we identified an increase in gray matter volume (GMV) in the striatum in asymptomatic Parkin, PINK1, ATP13A2 and, to a much lesser extent, in LRRK2 MC...
  35. Rinaldi D, Corradi G, Cuesta L, Adamo H, de Tezanos Pinto F. The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity. Biochim Biophys Acta. 2015;1848:1646-55 pubmed publisher
    ..Loss-of-function mutations in the ATP13A2 gene (PARK9, OMIM 610513) underlay a form of Parkinson's disease (PD) known as the Kufor-Rakeb syndrome (KRS), ..
  36. Li G, Zhang Z, Xia H, Yang X. Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups. Med Sci Monit. 2014;20:2177-82 pubmed publisher
    It has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson's disease (PD). PARK9 mutations are found in early-onset PD and familial PD patients...
  37. Groeger W, Koster W. Transmembrane topology of the two FhuB domains representing the hydrophobic components of bacterial ABC transporters involved in the uptake of siderophores, haem and vitamin B12. Microbiology. 1998;144 ( Pt 10):2759-69 pubmed
    ..However, in the 'siderophore family' proteins this putative ATPase interaction loop is followed by four instead of two transmembrane spans...
  38. Radi E, Formichi P, Di Maio G, Battisti C, Federico A. Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene. J Cell Mol Med. 2012;16:1916-23 pubmed publisher
    b>ATP13A2 gene encodes for a protein of the group 5 P-type ATPase family...
  39. Sutherland G, Halliday G, Silburn P, Mastaglia F, Rowe D, Boyle R, et al. Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?. Mov Disord. 2009;24:833-8 pubmed publisher
    ..No associations were seen for PRKN, PINK1, GBA, ATP13A2, HTRA2, NR4A2, and DJ1...
  40. Holemans T, Sørensen D, van Veen S, Martin S, Hermans D, Kemmer G, et al. A lipid switch unlocks Parkinson's disease-associated ATP13A2. Proc Natl Acad Sci U S A. 2015;112:9040-5 pubmed publisher
    b>ATP13A2 is a lysosomal P-type transport ATPase that has been implicated in Kufor-Rakeb syndrome and Parkinson's disease (PD), providing protection against α-synuclein, Mn(2+), and Zn(2+) toxicity in various model systems...
  41. Machner B, Sprenger A, Behrens M, Ramirez A, Brüggemann N, Klein C, et al. Eye movement disorders in ATP13A2 mutation carriers (PARK9). Mov Disord. 2010;25:2687-9 pubmed publisher
  42. dos Santos A, Pestana C, Diniz K, Campos M, Abdalla Carvalho C, de Rosso A, et al. Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease. Neurosci Lett. 2010;485:121-4 pubmed publisher
    In the last decade, several genes have been linked to Parkinson's disease (PD), including GIGYF2, ATP13A2 and GBA...
  43. Wang L, Guo J, Nie L, Zhang H, Shen L, Jiang H, et al. A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism. Chin Med J (Engl). 2009;122:3082-5 pubmed
  44. Chen C, Lin C, Juan H, Hu F, Hsiao Y, Chang H, et al. ATP13A2 variability in Taiwanese Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet. 2011;156B:720-9 pubmed publisher
    Mutations in ATP13A2 have been reported to associate with Parkinson's disease (PD). This study investigates the contribution of genetic variants in ATP13A2 to Taiwanese PD...
  45. Xu Q, Guo H, Zhang X, Tang B, Cai F, Zhou W, et al. Hypoxia regulation of ATP13A2 (PARK9) gene transcription. J Neurochem. 2012;122:251-9 pubmed publisher
    ..Mutations in several genes including ATP13A2 (PARK9) are reported to be associated with PD...
  46. Brüggemann N, Hagenah J, Reetz K, Schmidt A, Kasten M, Buchmann I, et al. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol. 2010;67:1357-63 pubmed publisher
    ..features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers. Prospective multimodal clinical and neuroimaging study...
  47. Mao X, Chang X, Peng R, Burgunder J, Yang Y, Wang Y, et al. ATP13A2 G2236A variant is rare in patients with early-onset Parkinson's disease and familial Parkinson's disease from Mainland China. Parkinsonism Relat Disord. 2010;16:235-6 pubmed publisher
  48. Dahiya I, Stevenson R. The ZnuABC operon is important for Yersinia ruckeri infections of rainbow trout, Oncorhynchus mykiss (Walbaum). J Fish Dis. 2010;33:331-40 pubmed publisher
    ..ruckeri...
  49. Lopes da Fonseca T, Outeiro T. ATP13A2 and Alpha-synuclein: a Metal Taste in Autophagy. Exp Neurobiol. 2014;23:314-23 pubmed publisher
    ..Thus far, more than 20 genes have been linked to familial forms of PD. Two of these genes encode for ATP13A2 and alpha-synuclein (asyn), proteins that seem to be members of a common network in both physiological and ..
  50. Grünewald A, Arns B, Seibler P, Rakovic A, Munchau A, Ramirez A, et al. ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. Neurobiol Aging. 2012;33:1843.e1-7 pubmed publisher
    ..have been connected to mitochondrial function and mitophagy, we studied the impact of endogenous mutations in ATPase type 13A2 (ATP13A2) on mitochondria in fibroblasts from KRS patients compared with controls...
  51. Martin S, Holemans T, Vangheluwe P. Unlocking ATP13A2/PARK9 activity. Cell Cycle. 2015;14:3341-2 pubmed publisher
  52. Su C, Feng Y, Liu T, Liu X, Bao J, Shi A, et al. Thioredoxin-interacting protein induced α-synuclein accumulation via inhibition of autophagic flux: Implications for Parkinson's disease. CNS Neurosci Ther. 2017;23:717-723 pubmed publisher
    ..Also, TXNIP aggravated α-synuclein accumulation. We also found that TXNIP inhibited the expression of ATP13A2, a lysosomal membrane protein...