ATP13A2 gene

Known as: ATP13A2, CLN12, ATPase, TYPE 13A2 
 
National Institutes of Health

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Broader (1)

Genes
KUFOR-RAKEB SYNDROME

Papers overview

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2016
2016
The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway
Forms of Parkinson's disease (PD) are associated with lysosomal and autophagic dysfunction. ATP13A2, which is mutated in some… (More)
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2016
2016
Regulation of ATP13A2 via PHD2-HIF1α Signaling Is Critical for Cellular Iron Homeostasis: Implications for Parkinson's Disease.
UNLABELLED We previously reported that pharmacological inhibition of a class of enzymes known as prolyl hydroxylase domain… (More)
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2016
2016
Atp13a2 Deficiency Aggravates Astrocyte-Mediated Neuroinflammation via NLRP3 Inflammasome Activation.
AIM Atp13a2 (Park9) gene encodes a transmembrane lysosomal P5-type ATPase (ATP13A2), and its missense or truncation mutations… (More)
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Review
2015
Review
2015
The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.
The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause… (More)
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2015
2015
α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.
Accumulating evidence from genetic and biochemical studies implicates dysfunction of the autophagic-lysosomal pathway as a key… (More)
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2015
2015
α-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9)
Mutations in the ATP13A2 (PARK9) gene cause early-onset, autosomal recessive Parkinson's disease (PD) and Kufor-Rakeb syndrome… (More)
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2014
2014
Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features
We present results of homozygosity mapping in two siblings affected with early onset Parkinson's disease (EOPD) and mutation… (More)
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2012
2012
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.
Lysosomes are responsible for degradation and recycling of bulky cell material, including accumulated misfolded proteins and… (More)
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2011
2011
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.
Mutations in the ATP13A2 gene are associated with Kufor-Rakeb syndrome (KRS) and are found also in patients with various other… (More)
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2011
2011
A truncating mutation in <ce:italic>ATP13A2</ce:italic> is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. A genome-wide association study… (More)
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