Research & Literature

The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity.

Rinaldi DE, Corradi GR, Cuesta LM, et al.

Biochimica et biophysica acta 2015; (1848(8)):1646-55.

Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.

Park JS, Sue CM

Current protein & peptide science 2017; (18(7)):725-732 doi:10.2174/1389203717666160311121534.

Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice.

Sato S, Koike M, Funayama M, et al.

The American journal of pathology 2016; (186(12)):3074-3082 doi:10.1016/j.ajpath.2016.08.006.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A, Martin S, Chamova T, et al.

Brain : a journal of neurology 2017; (140(2)):287-305 doi:10.1093/brain/aww307.

ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.

Wang R, Tan J, Chen T, et al.

The Journal of cell biology 2019; (218(1)):267-284 doi:10.1083/jcb.201804165.

Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

Rohani M, Lang AE, Sina F, et al.

Movement disorders clinical practice 2018; (5(2)):195-199 doi:10.1002/mdc3.12570.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Spataro R, Kousi M, Farhan SMK, et al.

Human genomics 2019; (13(1)):19 doi:10.1186/s40246-019-0203-9.

Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.

Kerstens HCJW, Satink T, Nijkrake MJ, et al.

Disability and rehabilitation 2020; (42(26)):3744-3751 doi:10.1080/09638288.2019.1610084.

Increased Lysosomal Exocytosis Induced by Lysosomal Ca2+ Channel Agonists Protects Human Dopaminergic Neurons from α-Synuclein Toxicity.

Tsunemi T, Perez-Rosello T, Ishiguro Y, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2019; (39(29)):5760-5772 doi:10.1523/JNEUROSCI.3085-18.2019.

The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.

Marcos AL, Corradi GR, Mazzitelli LR, et al.

Biochimica et biophysica acta. Biomembranes 2019; (1861(10)):182993 doi:10.1016/j.bbamem.2019.05.015.

Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report.

McNeil-Gauthier AL, Brais B, Rouleau G, et al.

Neurocase 2019; (25(3-4)):133-137 doi:10.1080/13554794.2019.1625928.

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.

Wei Q, Dong HL, Pan LY, et al.

Translational neurodegeneration 2019; (8()):19 doi:10.1186/s40035-019-0157-9.

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

Pietrzak A, Badura-Stronka M, Kangas-Kontio T, et al.

Folia neuropathologica 2019; (57(3)):285-294 doi:10.5114/fn.2019.88459.

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Estiar MA, Leveille E, Spiegelman D, et al.

Molecular genetics & genomic medicine 2020; (8(3)):e1052 doi:10.1002/mgg3.1052.

ATP13A2 deficiency disrupts lysosomal polyamine export.

van Veen S, Martin S, Van den Haute C, et al.

Nature 2020; (578(7795)):419-424 doi:10.1038/s41586-020-1968-7.

Phenotypic assays in yeast and zebrafish reveal drugs that rescue ATP13A2 deficiency.

Heins-Marroquin U, Jung PP, Cordero-Maldonado ML, et al.

Brain communications 2019; (1(1)):fcz019 doi:10.1093/braincomms/fcz019.

Psychiatric Manifestations of ATP13A2 Mutations.

Balint B, Damasio J, Magrinelli F, et al.

Movement disorders clinical practice 2020; (7(7)):838-841 doi:10.1002/mdc3.13034.

Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.

Kırımtay K, Temizci B, Gültekin M, et al.

Brain research 2021; (1750()):147167 doi:10.1016/j.brainres.2020.147167.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Odake Y, Koh K, Takiyama Y, et al.

Neurology. Genetics 2020; (6(5)):e514 doi:10.1212/NXG.0000000000000514.

ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress.

Vrijsen S, Besora-Casals L, van Veen S, et al.

Proceedings of the National Academy of Sciences of the United States of America 2020; (117(49)):31198-31207 doi:10.1073/pnas.1922342117.

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Mole SE, Schulz A, Badoe E, et al.

Orphanet journal of rare diseases 2021; (16(1)):185 doi:10.1186/s13023-021-01813-5.

Pallidal degenerations and related disorders: an update.

Jellinger KA

Journal of neural transmission (Vienna, Austria : 1996) 2022; (129(5-6)):521-543 doi:10.1007/s00702-021-02392-2.

Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa-Responsive Parkinsonism Due to ATP13A2 Mutation.

Chien HF, Rodriguez RD, Bonifati V, et al.

Neurology 2021; (97(16)):763-766 doi:10.1212/WNL.0000000000012705.

Structural mechanisms for gating and ion selectivity of the human polyamine transporter ATP13A2.

Tillinghast J, Drury S, Bowser D, et al.

Molecular cell 2021; (81(22)):4650-4662.e4 doi:10.1016/j.molcel.2021.10.002.

Long-term outcomes after surgery to prevent aspiration for patients with amyotrophic lateral sclerosis.

Soga T, Suzuki N, Kato K, et al.

BMC neurology 2022; (22(1)):94 doi:10.1186/s12883-022-02619-z.

A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.

Zhang F, Liu P, Li J, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(4)):1749-1753 doi:10.1007/s10072-024-07334-w.

Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.

Amini E, Rohani M, Lang AE, et al.

Movement disorders clinical practice 2024; (11(1)):53-62 doi:10.1002/mdc3.13933.

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Colijn MA, Vrijsen S, Au PYB, et al.

Neurogenetics 2024; (25(4)):405-415 doi:10.1007/s10048-024-00767-7.

Dantrolene paradoxically exacerbates short-term brain glucose hypometabolism, hippocampal damage and neuroinflammation induced by status epilepticus in the rat lithium-pilocarpine model.

García-García L, Gómez-Oliver F, Fernández de la Rosa R, Pozo MÁ

European journal of pharmacology 2024; (985()):177073 doi:10.1016/j.ejphar.2024.177073.

[Psychopathological disorders at the onset of juvenile parkinsonism in childhood].

Goryunova AV, Shevchenko YS, Danilova LY, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2024; (124(11. Vyp. 2)):96-102 doi:10.17116/jnevro202412411296.

Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.

Ramírez RB, Gascó NV, Palmero LR, et al.

Molecular genetics & genomic medicine 2025; (13(2)):e70073 doi:10.1002/mgg3.70073.

Altered ATP13A2/PARK9 Levels Influence α-Synuclein Accumulation in Neurons via Phagocytosis and Secretion in Glial Cells.

Tsunemi T, Ishiguro Y, Yoroisaka A, et al.

Cells 2025; (14(3)) doi:10.3390/cells14030163.

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

Khosravi S, Amini E, Emamikhah M, et al.

Movement disorders clinical practice 2025; (12(6)):852-857 doi:10.1002/mdc3.70027.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Mania-Pâris L, Ewenczyk C, Nicolas G, et al.

Revue neurologique 2025; (181(6)):471-482 doi:10.1016/j.neurol.2025.05.001.

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Messaoud-Khelifi M, Boulariah-Hadjou R, Kediha MI, et al.

Neurogenetics 2025; (26(1)):52 doi:10.1007/s10048-025-00833-8.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Affronte L, Pini A, Pizzoli C, et al.

Frontiers in genetics 2025; (16()):1588812 doi:10.3389/fgene.2025.1588812.

Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report.

Méndez-Veras R, Urbizo A, Cabrera J, Boburg S

Case reports in genetics 2025; (2025()):6993134 doi:10.1155/crig/6993134.

Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.

Roy S, Mahale RR

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(1)):106.

A PARK9 iPSC-Derived Dopaminergic Neuron Model Enables Drug Screening Targeting Autophagy-Lysosome Pathway Dysfunction in Parkinson's Disease.

Tsukiboshi KI, Ishikawa KI, Yamaguchi A, et al.

Journal of neurochemistry 2026; (170(7)):e70515 doi:10.1111/jnc.70515.

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study.

Solomon BI, Munoz AM, Borruso A, et al.

Orphanet journal of rare diseases 2026; (21(1)).