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ATP13A2 gene

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

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2 relations

Broader (1)

Genes
KUFOR-RAKEB SYNDROME

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis
Review
2017
Review
2017
Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.
Kufor-Rakeb syndrome (KRS) is an autosomal recessive form of Parkinson's disease (PD) with juvenile onset of parkinsonism, often… 
2017
2017
Molecular biomarkers of Parkinson disease and neurodegenerative disorders in cerebrospinal fluid
Review
2015
Review
2015
Unlocking ATP13A2/PARK9 activity
ATP13A2 (OMIM 610513) is a lysosomal P-type ATPase implicated in neurological disorders including Kufor-Rakeb Syndrome and… 
2014
2014
Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features
2014
2014
ATP13A2/PARK9 Deficiency Neither Cause Lysosomal Impairment Nor Alter α-Synuclein Metabolism in SH-SY5Y Cells
Parkinson's disease is a multifactorial disorder with several genes linked to the familial types of the disease. ATP13A2 is one… 
2014
2014
Analysis of Thr12Met and Ala1144Thr Mutations of the ATP13A2 Gene in Parkinson’s Disease Patients in Xinjiang Uygur and Han Ethnic Groups
Background It has been reported that the ATP13A2 gene is one of the most susceptible pathogenic genes of Parkinson’s disease (PD… 
2013
2013
The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival
2012
2012
CHO cells expressing the human P5-ATPase ATP13A2 are more sensitive to the toxic effects of herbicide Paraquat
2012
2012
Altered apoptosis regulation in Kufor–Rakeb syndrome patients with mutations in the ATP13A2 gene
ATP13A2 gene encodes for a protein of the group 5 P‐type ATPase family. ATP13A2 mutations are responsible for Kufor–Rakeb… 
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