Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

ATP13A2 gene

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

Related topics

Related topics

2 relations

Broader (1)

Genes
KUFOR-RAKEB SYNDROME

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
ATP13A2/PARK9 regulates endo‐/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2‐mediated scaffolding function
&NA; ATP13A2 (also called PARK9), is a transmembrane endo‐/lysosomal‐associated P5 type transport ATPase. Loss‐of‐function… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2016
Highly Cited
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2016
2016
Atp13a2 Deficiency Aggravates Astrocyte‐Mediated Neuroinflammation via NLRP3 Inflammasome Activation
Atp13a2 (Park9) gene encodes a transmembrane lysosomal P5‐type ATPase (ATP13A2), and its missense or truncation mutations leads… Expand
Is this relevant?
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… Expand
  • table 1
  • table 1
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
2015
Highly Cited
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2014
Highly Cited
2014
ATP13A2/PARK9 Regulates Secretion of Exosomes and α-Synuclein
Kufor–Rakeb syndrome (KRS) is caused by loss-of-function mutations in ATP13A2 (PARK9) and characterized by juvenile-onset… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
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… Expand
  • figure 1
  • table 1
  • figure 2
Is this relevant?
Highly Cited
2012
Highly Cited
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2011
Highly Cited
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2011
Highly Cited
2011
A truncating mutation in ATP13A2 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… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE