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ATPase type 13A2

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
ATP13A2/PARK9 Regulates Secretion of Exosomes and α-Synuclein.
Krainc et al., Chicago, United States. In J Neurosci, 12 Dec 2014
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.
α-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9).
Moore et al., Lausanne, Switzerland. In Neurobiol Dis, 18 Nov 2014
UNLABELLED: Mutations in the ATP13A2 (PARK9) gene cause early-onset, autosomal recessive Parkinson's disease (PD) and Kufor-Rakeb syndrome.
Orchestrated increase of dopamine and PARK mRNAs but not miR-133b in dopamine neurons in Parkinson's disease.
Liss et al., Ulm, Germany. In Neurobiol Aging, Oct 2014
We identified that elevated alpha-synuclein messenger RNA levels in SN DA neurons of human PD brains were positively correlated with corresponding elevated levels of mRNAs for functional compensation of progressive SN DA loss and for enhanced proteasomal (PARK5/UCHL1) and lysosomal (PARK9/ATPase13A2) function, possibly counteracting alpha-synuclein toxicity.
Selection response to DNA testing for canine ceroid lipofuscinosis in Tibetan terriers.
Distl et al., Hannover, Germany. In Vet J, Sep 2014
The disease is inherited as a monogenic recessive trait caused by aberrant exon skipping in ATP13A2.
Correlation between the biochemical pathways altered by mutated parkinson-related genes and chronic exposure to manganese.
Roth, Buffalo, United States. In Neurotoxicology, Sep 2014
These include the genes α-synuclein, parkin, PINK1, DJ-1, ATP13A2, and SLC30A10 which are associated with early-onset of Parkinson's as well as those genes linked with late onset of the disorder which include, LRRK2 and VPS35.
Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features.
Elahi et al., Tehrān, Iran. In Neurosci Lett, Sep 2014
We present results of homozygosity mapping in two siblings affected with early onset Parkinson's disease (EOPD) and mutation screening of ATP13A2 in these and other Iranian EOPD patients.
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
Finazzi et al., Milano, Italy. In Front Pharmacol, Dec 2013
In the other forms the connection with iron metabolism is not evident at all and the genetic data let infer the involvement of other pathways: Pank2, Pla2G6, C19orf12, COASY, and FA2H genes seem to be related to lipid metabolism and to mitochondria functioning, WDR45 and ATP13A2 genes are implicated in lysosomal and autophagosome activity, while the C2orf37 gene encodes a nucleolar protein of unknown function.
Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.
Vangheluwe et al., Leuven, Belgium. In Front Mol Neurosci, Dec 2013
Mutations in ATP13A2 lead to Kufor-Rakeb syndrome, a parkinsonism with dementia.
Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson's Disease Patients in Xinjiang Uygur and Han Ethnic Groups.
Yang et al., Ürümqi, China. In Med Sci Monit, Dec 2013
Background It has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson's disease (PD).
Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.
Xu et al., Chengdu, China. In Biomed Res Int, Dec 2013
Such mutations in ATP13A2, also named PARK9, were first identified in 2006 in a Chilean family and are associated with a juvenile-onset, levodopa-responsive type of Parkinsonism called Kufor-Rakeb syndrome (KRS).
Lysosomal impairment in Parkinson's disease.
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.
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).
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.
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
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.
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.
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.
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.
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.
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.
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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