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ATPase type 13A2

ATP13A2, PARK9
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] (from NCBI)
Top mentioned proteins: PINK1, E3 ubiquitin ligase, DJ-1, LRRK2, ATPase
Papers on ATP13A2
Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes.
New
Cooper et al., Australia. In Hum Mol Genet, Jul 2014
Increased expression of the P-type ATPase ion pump PARK9/ATP13A2 suppresses α-Synuclein toxicity in primary neurons.
Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.
New
Krainc et al., United States. In Hum Mol Genet, Jul 2014
Mutations in ATP13A2 (PARK9) cause Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementia.
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.
New
Sue et al., Sydney, Australia. In Hum Mol Genet, Jul 2014
Human ATP13A2 (PARK9), a lysosomal type 5 P-type ATPase, has been associated with autosomal recessive early-onset Parkinson's disease (PD).
C19orf12 mutation leads to a pallido-pyramidal syndrome.
New
Alkuraya et al., Sioux Falls, United States. In Gene, Apr 2014
Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11.
Exploring the pathogenetic mechanisms underlying Parkinson's disease in medaka fish.
New
Takahashi et al., Miyazaki, Japan. In J Parkinsons Dis, Dec 2013
Another mutant, the ATP13A2 mutant, also expressed a PD phenotype, exhibiting marked cathepsin D reduction and fingerprint-like structures that are generally found in lysosome storage diseases.
Lysosomal impairment in Parkinson's disease.
Review
New
Bezard et al., Bordeaux, France. In Mov Disord, Jun 2013
Conversely, mutations in lysosomal-related genes, such as glucocerebrosidase (GBA) and lysosomal type 5 P-type ATPase (ATP13A2), have been linked to PD.
Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.
Review
New
Puschmann, Lund, Sweden. In Parkinsonism Relat Disord, Apr 2013
Changes in a long list of additional genes have been suggested as causes for parkinsonism or PD, including genes for hereditary ataxias (ATXN2, ATXN3, FMR1), frontotemporal dementia (C9ORF72, GRN, MAPT, TARDBP), DYT5 (GCH1, TH, SPR), and others (ATP13A2, CSF1R, DNAJC6, FBXO, GIGYF2, HTRA2, PLA2G6, POLG, SPG11, UCHL1).
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).
Review
New
Bhatia et al., Kiel, Germany. In J Neural Transm, Apr 2013
Pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2) are the core syndromes, but several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL).
The genetics of Parkinson's disease: progress and therapeutic implications.
Review
Bonifati et al., Bethesda, United States. In Mov Disord, 2013
Notably, whereas most mutations, such as those in SNCA, PINK1, PARK2, PARK7, PLA2G6, FBXO7, and ATP13A2, are a rare cause of disease, one particular mutation in LRRK2 has been found to be common in certain populations.
Manganese and the brain.
Clayton et al., London, United Kingdom. In Int Rev Neurobiol, 2012
While a number of proteins such as the divalent metal transporter 1, the transferrin/transferrin receptor complex, the ZIP family metal transporters ZIP-8 and ZIP-14, the secretory pathway calcium ATPases SPCA1 and SPCA2, ATP13A2, and ferroportin have been suggested to play a role in Mn transport, the degree that each of them contributes to Mn homeostasis has still to be determined.
CATP-6, a C. elegans ortholog of ATP13A2 PARK9, positively regulates GEM-1, an SLC16A transporter.
Conradt et al., Martinsried, Germany. In Plos One, 2012
In this study, we report that CATP-6, a C. elegans ortholog of the P5B ATPase, ATP13A2 (PARK9), is necessary for gem-1 gain-of-function mutations to suppress the effects of gon-2 inactivation.
Parkinson's disease: from genetics to treatments.
Review
Lin et al., Taipei, Taiwan. In Cell Transplant, 2012
The molecular investigations of proteins encoded by PD-linked genes have clarified that ADPD is associated with α-synuclein and LRRK2, while ARPD is linked to Parkin, PINK1, DJ1, and ATP13A2.
ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies.
Halliday et al., Sydney, Australia. In Acta Neuropathol Commun, 2012
BACKGROUND: ATP13A2 (PARK9) loss of function mutations are a genetic cause of an early-onset form of Parkinson's disease (PD), with in vitro studies showing that ATP13A2 deficits lead to lysosomal and mitochondrial dysfunction and α-synuclein accumulation, while elevated ATP13A2 expression reduces α-synuclein toxicity.
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
GeneRIF
Guerreiro et al., London, United Kingdom. In Hum Mol Genet, 2012
Data show that a family with typical neuronal ceroid lipofuscinoses (NCLs) pathology carried a single homozygous mutation in ATP13A2 that fully segregates with disease.
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.
GeneRIF
Bezard et al., Bordeaux, France. In Proc Natl Acad Sci U S A, 2012
results unravel an instrumental role of ATP13A2 deficiency on lysosomal function and cell viability and demonstrate the feasibility and therapeutic potential of modulating ATP13A2 levels in the context of PD
Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.
GeneRIF
Krainc et al., Boston, United States. In J Neurosci, 2012
This study demonistrated that restoration of ATP13A2 function may lead to improved lysosomal function and decreased accumulation of alpha-syn.
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.
GeneRIF
Pang et al., Shenyang, China. In Chin Med J (engl), 2012
The SNPs investigated in the BST1, PARK15 and PARK9 genes associated with PD susceptibility are not associated with PD in the northern Han Chinese population.
The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast.
GeneRIF
Gitler et al., Stanford, United States. In Plos One, 2011
results confirm a role for Ypk9 in manganese homeostasis and illuminates cellular pathways and biological processes in which Ypk9 likely functions
Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.
Impact
Lindquist et al., Cambridge, United States. In Nat Genet, 2009
Here we report a strong genetic interaction between alpha-syn and the yeast ortholog of the PD-linked gene ATP13A2 (also known as PARK9).
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
Impact
Kubisch et al., Köln, Germany. In Nat Genet, 2006
Here, we 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 (PARK9, Kufor-Rakeb syndrome).
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