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
C-Myc Indirectly Controls ATP13A2 Levels via HIF-1α Activation.
Tiryakiler AB et al.
Journal of Neurochemistry, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
The Roles of ATP13A2 Gene Mutations Leading to Abnormal Aggregation of α-Synuclein in Parkinson's Disease.
Zhang F et al.
Frontiers in Cellular Neuroscience, 2022
Structural basis of polyamine transport by human ATP13A2 (PARK9).
Sim SI et al.
Molecular Cell, 2021
Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.
Chen X et al.
Cell Discovery, 2021
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Wittke C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.
Wang R et al.
The Journal of Cell Biology, 2019
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
Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease.
Sato S et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2017
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
α-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9).
Daniel G et al.
Neurobiology of Disease, 2015
Genetics of Parkinson's disease: the yield.
Spatola M et al.
Parkinsonism & Related Disorders, 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
Advances in the genetics of Parkinson disease.
Trinh J et al.
Nature Reviews. Neurology, 2013
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
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
Covy JP et al.
Journal of Neuroscience Research, 2012
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Eiberg H et al.
Clinical Genetics, 2012
PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.
Ramonet D et al.
Human Molecular Genetics, 2012
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
α-Synuclein, leucine-rich repeat kinase-2, and manganese in the pathogenesis of Parkinson disease.
Covy JP et al.
Neurotoxicology, 2011
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
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Park JS et al.
Human Mutation, 2011
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
Paisán-Ruiz C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
ATP13A2 variants in early-onset Parkinson's disease patients and controls.
Djarmati A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.
Kaneko H et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
Parkinson's disease: from monogenic forms to genetic susceptibility factors.
Lesage S et al.
Human Molecular Genetics, 2009
ATP13A2 variability in Parkinson disease.
Vilariño-Güell C et al.
Human Mutation, 2009