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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: E3 ubiquitin ligase, PINK1, DJ-1, LRRK2, ATPase
Papers on ATP13A2
Nanoparticles restore lysosomal acidification defects: Implication for Parkinson and other lysosomal-related diseases.
Dehay et al., Bordeaux, France. In Autophagy, Feb 2016
ATP13A2-mutant or depleted cells or glucocerebrosidase (GBA)-mutant cells, as well as in a genetic model of lysosomal-related myopathy.
Advances in GBA-associated Parkinson's disease - pathology, presentation and therapies.
Grobler et al., Potchefstroom, South Africa. In Neurochem Int, Jan 2016
The Mendelian Parkinson's disease genes, Parkin and ATP13A2, intersect with glucocerebrosidase.
Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.
Hirst et al., Cambridge, United States. In Hum Mol Genet, Dec 2015
The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human LRRK2 G2019S carriers.
The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity.
de Tezanos Pinto et al., Junín, Argentina. In Biochim Biophys Acta, Aug 2015
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), which belongs to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA).
A lipid switch unlocks Parkinson's disease-associated ATP13A2.
Vangheluwe et al., Leuven, Belgium. In Proc Natl Acad Sci U S A, Aug 2015
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.
Lack of association between the ATP13A2 A746T variant and Parkinson's disease susceptibility in Han Chinese: a meta-analysis.
Xu et al., Yichun, China. In Int J Neurosci, Jul 2015
PURPOSE: To perform a meta-analysis to help resolve the controversy of whether the ATP13A2 A746T variant is associated with Parkinson's disease (PD) susceptibility in Han Chinese.
The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.
Sue et al., Sydney, Australia. In Mov Disord, May 2015
The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause Kufor-Rakeb syndrome, an autosomal recessive, juvenile-onset form of parkinsonism associated with the additional clinical triad of spasticity, supranuclear gaze palsy, and dementia.
The endosomal pathway in Parkinson's disease.
Tofaris et al., Oxford, United Kingdom. In Mol Cell Neurosci, May 2015
In this review, we summarized the evidence that a number of Parkinson's associated genetic mutations or polymorphisms (LRRK2, VPS35, GBA, ATP13A2, ATP6AP2, DNAJC13/RME-8, RAB7L1, GAK) disrupt protein trafficking and degradation via the endosomal pathway and discussed how such defects could arise from or contribute to the accumulation and misfolding of α-synuclein in Lewy bodies.
α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.
Dauer et al., Ann Arbor, United States. In J Neurosci, May 2015
KRS is caused by recessive loss-of-function mutations in the ATP13A2 gene encoding the endolysosomal ATPase ATP13A2.
A current review for biological monitoring of manganese with exposure, susceptibility, and response biomarkers.
Yang et al., Seoul, South Korea. In J Environ Sci Health C Environ Carcinog Ecotoxicol Rev, 2014
In this study, we review current statuses of Mn exposure via various exposure routes including food, high susceptible population, effects of genetic polymorphisms of metabolic enzymes or transporters (CYP2D6, PARK9, SLC30A10, etc.), alterations of the Mn-responsive proteins (i.e., glutamine synthetase, Mn-SOD, metallothioneins, and divalent metal trnsporter1), and epigenetic changes due to the Mn exposure.
Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
Vital et al., Bordeaux, France. In J Peripher Nerv Syst, 2014
Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X mental retardation (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the β-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations.
Status of the Parkinson's disease gene family expression in non-small-cell lung cancer.
Dai et al., Chongqing, China. In World J Surg Oncol, 2014
PARK9, 55/114 (48.25%)
Potential Biomarkers of the Earliest Clinical Stages of Parkinson's Disease.
Shadrina et al., Moscow, Russia. In Parkinsons Dis, 2014
An analysis of the mRNA levels of ATP13A2, PARK2, PARK7, PINK1, LRRK2, SNCA, ALDH1A1, PDHB, PPARGC1A, and ZNF746 genes in the peripheral blood of patients was carried out using reverse transcription followed by real-time PCR.
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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