Associated Papers
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 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
Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.
Algahtani H et al.
Movement Disorders Clinical Practice, 2022
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
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.
Odake Y et al.
Neurology. Genetics, 2020
ATP13A2 deficiency disrupts lysosomal polyamine export.
van Veen S et al.
Nature, 2020
Emerging Role of Genetic Alterations Affecting Exosome Biology in Neurodegenerative Diseases.
Riva P et al.
International Journal of Molecular Sciences, 2019
Increased Lysosomal Exocytosis Induced by Lysosomal Ca2+ Channel Agonists Protects Human Dopaminergic Neurons from α-Synuclein Toxicity.
Tsunemi T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
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
ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein.
Tsunemi T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.
Tsunemi T et al.
Human Molecular Genetics, 2014
Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.
Usenovic M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012