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
Computational association in parkinson's disease SNPs with brain structural and functional alterations.
Subramaniyan S et al.
Neurogenetics, 2025
Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.
Khosravi S et al.
Movement Disorders Clinical Practice, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.
Colijn MA et al.
Neurogenetics, 2024
ATP13A2 (PARK9) and basal ganglia function.
Croucher KM et al.
Frontiers in Neurology, 2023
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
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.
Chen X et al.
Cell Discovery, 2021
Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.
Santos-Lobato BL et al.
Arquivos De Neuro-psiquiatria, 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
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Spataro R et al.
Human Genomics, 2019
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
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
Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.
Martino D et al.
Parkinsonism & Related Disorders, 2015
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
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
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
Wöhlke A et al.
Plos Genetics, 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
The genetics of Parkinson disease.
Bekris LM et al.
Journal of Geriatric Psychiatry and Neurology, 2010
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
From genes to proteins in mendelian Parkinson's disease: an overview.
Pirkevi C et al.
Anatomical Record (hoboken, N.j. : 2007), 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
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Di Fonzo A et al.
Neurology, 2007
Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers.
Noch E et al.
Movement Disorders Clinical Practice, 0