Atp13a2

Summary

Gene Symbol: Atp13a2
Description: ATPase cation transporting 13A2
Alias: RGD1307977, ATPase 13A2, ATPase type 13A2
Species: rat
Products:     Atp13a2

Top Publications

  1. 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...
  2. 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 ..
  3. 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 ?-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 ?-Synuclein toxicity in primary neurons...
  4. Tsunemi T, Hamada K, Krainc D. ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein. J Neurosci. 2014;34:15281-7 pubmed publisher
    Kufor-Rakeb syndrome (KRS) is caused by loss-of-function mutations in ATP13A2 (PARK9) and characterized by juvenile-onset parkinsonism, pyramidal signs, and cognitive decline...
  5. Kelm Nelson C, Stevenson S, Ciucci M. Atp13a2 expression in the periaqueductal gray is decreased in the Pink1 -/- rat model of Parkinson disease. Neurosci Lett. 2016;621:75-82 pubmed publisher
    ..However, Pink1 -/- rats show significantly decreased levels of Atp13a2, a transmembrane lysosomal P5-type ATPase suggesting a potential mechanism for the observed abnormal aggregation...
  6. 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 (..
  7. 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...
  8. 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...
  9. 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...

More Information

Publications15

  1. 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...
  2. 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...
  3. Beilina A, Cookson M. Genes associated with Parkinson's disease: regulation of autophagy and beyond. J Neurochem. 2016;139 Suppl 1:91-107 pubmed publisher
    ..This article is part of a special issue on Parkinson disease. ..
  4. Rajagopalan S, Rane A, Chinta S, Andersen J. Regulation of ATP13A2 via PHD2-HIF1α Signaling Is Critical for Cellular Iron Homeostasis: Implications for Parkinson's Disease. J Neurosci. 2016;36:1086-95 pubmed publisher
    ..PHD2 inhibition was found to result in increased expression of ATP13A2, mutation of which is responsible for a rare juvenile form of PD known as Kufor-Rakeb syndrome...
  5. De La Hera D, Corradi G, Adamo H, de Tezanos Pinto F. Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake. Biochem J. 2013;450:47-53 pubmed publisher
    ..Mutations of the human gene ATP13A2 underlie a form of PD (Parkinson's disease)...
  6. 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...