Associated Papers
An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.
Asmi S et al.
Ageing Research Reviews, 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
Lysosomal dysfunction in α-synuclein pathology: molecular mechanisms and therapeutic strategies.
Dai L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H+,K+-ATPase.
Fujii T et al.
Nature Communications, 2023
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy.
Gagliardi M et al.
Journal of the Neurological Sciences, 2021
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
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Estiar MA et al.
Molecular Genetics & Genomic Medicine, 2020
ATP13A2 deficiency disrupts lysosomal polyamine export.
van Veen S et al.
Nature, 2020
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
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
Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups.
Li G et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2014
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
ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.
Matsui H et al.
Febs Letters, 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
The genetics of Parkinson disease.
Bekris LM et al.
Journal of Geriatric Psychiatry and Neurology, 2010
From genes to proteins in mendelian Parkinson's disease: an overview.
Pirkevi C et al.
Anatomical Record (hoboken, N.j. : 2007), 2009
Complicated recessive dystonia parkinsonism syndromes.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
ATP13A2 variability in Parkinson disease.
Vilariño-Güell C et al.
Human Mutation, 2009
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
Lin CH et al.
Neurology, 2008
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Di Fonzo A et al.
Neurology, 2007