Associated Papers
Pathophysiological Roles of Two Intracellular P-Type ATPases: The Cancer-Associated Na+,K+-ATPase α3 Isoform and the Parkinson's Disease-Related ATP13A2.
Fujii T et al.
International Journal of Molecular Sciences, 2026
Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.
Roy S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 2024
Lysosomal dysfunction in α-synuclein pathology: molecular mechanisms and therapeutic strategies.
Dai L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H+,K+-ATPase.
Fujii T et al.
Nature Communications, 2023
Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.
Kablan A et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2023
ATP13A2 (PARK9) and basal ganglia function.
Croucher KM et al.
Frontiers in Neurology, 2023
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.
Chen X et al.
Cell Discovery, 2021
PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
ATP13A2 deficiency disrupts lysosomal polyamine export.
van Veen S et al.
Nature, 2020
ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang.
Wang D et al.
Biomed Research International, 2020
Phenotypic assays in yeast and zebrafish reveal drugs that rescue ATP13A2 deficiency.
Heins-Marroquin U et al.
Brain Communications, 2019
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
Rayaprolu S et al.
Molecular and Cellular Neurosciences, 2018
Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.
Shen T et al.
Scientific Reports, 2018
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A et al.
Brain : a Journal of Neurology, 2017
Lack of association between the ATP13A2 A746T variant and Parkinson's disease susceptibility in Han Chinese: a meta-analysis.
Pan LS et al.
The International Journal of Neuroscience, 2016
The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.
Park JS et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.
Gao K et al.
Molecular Biology Reports, 2014
Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.
Yang X et al.
Biomed Research International, 2014
The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.
Chan AY et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2013
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Eiberg H et al.
Clinical Genetics, 2012
Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
Podhajska A et al.
Plos One, 2012
What genetics tells us about the causes and mechanisms of Parkinson's disease.
Corti O et al.
Physiological Reviews, 2011
ATP13A2 variability in Taiwanese Parkinson's disease.
Chen CM et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.
Dos Santos AV et al.
Neuroscience Letters, 2010
Rapid screening of ATP13A2 variant with high-resolution melting analysis.
Funayama M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.
Fei QZ et al.
Neuroscience Letters, 2010
ATP13A2 G2236A variant is rare in patients with early-onset Parkinson's disease and familial Parkinson's disease from Mainland China.
Mao XY et al.
Parkinsonism & Related Disorders, 2010
Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD.
Wu YR et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
Lin CH et al.
Neurology, 2008