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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)
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Papers on
ATP13A2
Neurodegeneration with Brain Iron Accumulation Disorders Overview
New
Seattle, United States. In Unknown Journal, 28 Mar 2013
The nine genes known to be associated with types of NBIA are PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17.
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations.
New
Lund, Sweden. In Parkinsonism Relat Disord, 22 Mar 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).
Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake.
New
Junín, Argentina. In Biochem J, 15 Mar 2013
Mutations of the human gene ATP13A2 underlie a form of PD (Parkinson's disease).
Atp13a2-Deficient Mice Exhibit Neuronal Ceroid Lipofuscinosis, Limited α-Synuclein Accumulation, and Age-Dependent Sensorimotor Deficits.
New
In Hum Mol Genet, 07 Mar 2013
Mutations in ATP13A2 (PARK9), encoding a lysosomal P-type ATPase, are associated with both Kufor-Rakeb syndrome (KRS) and neuronal ceroid lipofuscinosis (NCL).
The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival.
New
Lisbon, Portugal. In Brain Res Bull, Jan 2013
ATP13A2 is a lysosome-specific transmembrane ATPase protein of unknown function.
The genetics of Parkinson's disease: Progress and therapeutic implications.
New
Bethesda, United States. In Mov Disord, Jan 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.
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).
New
Kiel, Germany. In J Neural Transm, Jan 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).
Parkinson's Disease: from genetics to treatments.
New
In Cell Transplant, Dec 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.
Lysosome-dependent pathways as a unifying theme in Parkinson's disease.
Review
New
Oxford, United Kingdom. In Mov Disord, Oct 2012
Glucocerebrosidase and ATP13A2 are important components of this degradative organelle.
The genetics and neuropathology of Parkinson's disease.
Review
New
London, United Kingdom. In Acta Neuropathol, Sep 2012
We then discuss the identification of mutations in PARK2, PARK7, PINK1, ATP13A2, FBXO7, PANK2 and PLA2G6 genes.
PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.
Review
New
United Kingdom. In Curr Drug Targets, Aug 2012
Rare recessive causes include PLA2G6 mutations (infantile neuroaxonal dystrophy), and mutations of ATP13A2 (Kufor Rakeb syndrome) and FA2H.
Iron dysregulation in movement disorders.
Review
New
Houston, United States. In Neurobiol Dis, Apr 2012
Another group of NBIAs is caused by mutations in lysosomal enzymes or transporters such as ATP13A2, mucolipin-1 and possibly also β-galactosidase and α-fucosidase.
Genetics of Parkinson's disease.
Review
Lübeck, Germany. In Semin Neurol, 2011
The authors review the rapidly growing field of PD genetics, with a focus on the clinical, genetic, and pathophysiologic features of well-validated monogenic forms of PD caused by mutations in the SNCA, LRRK2, PARKIN, PINK1, DJ-1, and ATP13A2 genes.
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
GeneRIF
Baltimore, United States. In Hum Mol Genet, 2011
Mutant Atp13a2 proteins are degraded by endoplasmic reticulum-associated degradation and sensitize cells to cell death.
ATP13A2 variability in Taiwanese Parkinson's disease.
GeneRIF
Taipei, Taiwan. In Am J Med Genet B Neuropsychiatr Genet, 2011
rare variants of ATP13A2 may contribute to Parkinson's disease susceptibility in Taiwan
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.
GeneRIF
Changsha, China. In J Biol Chem, 2011
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
GeneRIF
Sydney, Australia. In Hum Mutat, 2011
premature degradation of mutant ATP13A2 mRNA contribute to the aetiology of Kufor-Rakeb syndrome (KRS).
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.
GeneRIF
Columbia, United States. In Neurobiol Dis, 2011
To see if ATP13A2 mutations could be responsible for some cases of human adult-onset NCL (Kufs disease), we resequenced ATP13A2 from 28 Kufs disease patients. None of these patients had ATP13A2 sequence variants likely to be causal for their disease
Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.
Impact
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
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).
