| Sgt1 Regulates alpha-Synuclein Subcellular Localization and Expression of Parkinson's Disease Related Genes, PINK1 and PARK9. | Sgt1 Regulates α-Synuclein Subcellular Localization and Expression of Parkinson's Disease Related Genes, PINK1 and PARK9.
Bohush A, Góral A, Sierant M, Nawrot B, Leśniak W, Filipek A., Free PMC Article | 07/29/2024 |
| ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis. | ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis.
Zhang F, Wu Z, Yu B, Ning Z, Lu Z, Li L, Long F, Hu Q, Zhong C, Zhang Y, Lin C., Free PMC Article | 08/23/2023 |
| Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H[+],K[+]-ATPase. | Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H(+),K(+)-ATPase.
Fujii T, Nagamori S, Wiriyasermkul P, Zheng S, Yago A, Shimizu T, Tabuchi Y, Okumura T, Fujii T, Takeshima H, Sakai H., Free PMC Article | 05/5/2023 |
| ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway. | ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway.
Hatori Y, Kanda Y, Nonaka S, Nakanishi H, Kitazawa T., Free PMC Article | 12/17/2022 |
| Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay. | Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.
Kırımtay K, Temizci B, Gültekin M, Yapıcı Z, Karabay A. | 01/15/2022 |
| Cryo-EM reveals mechanistic insights into lipid-facilitated polyamine export by human ATP13A2. | Cryo-EM reveals mechanistic insights into lipid-facilitated polyamine export by human ATP13A2.
Tomita A, Daiho T, Kusakizako T, Yamashita K, Ogasawara S, Murata T, Nishizawa T, Nureki O., Free PMC Article | 01/8/2022 |
| Structural mechanisms for gating and ion selectivity of the human polyamine transporter ATP13A2. | Structural mechanisms for gating and ion selectivity of the human polyamine transporter ATP13A2.
Tillinghast J, Drury S, Bowser D, Benn A, Lee KPK. | 01/8/2022 |
| Structural basis of polyamine transport by human ATP13A2 (PARK9). | Structural basis of polyamine transport by human ATP13A2 (PARK9).
Sim SI, von Bülow S, Hummer G, Park E., Free PMC Article | 01/8/2022 |
| Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy. | Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy.
Gagliardi M, Procopio R, Nicoletti G, Morelli M, Brighina L, Quattrone A, Bonapace G, Malanga D, Quattrone A, Annesi G. | 12/11/2021 |
| ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang. | ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang.
Wang D, Gao H, Li Y, Jiang S, Yang X., Free PMC Article | 06/19/2021 |
| ATP13A2 Regulates Cellular alpha-Synuclein Multimerization, Membrane Association, and Externalization. | ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization.
Si J, Van den Haute C, Lobbestael E, Martin S, van Veen S, Vangheluwe P, Baekelandt V., Free PMC Article | 05/22/2021 |
| Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function. | Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function.
Anand N, Holcom A, Broussalian M, Schmidt M, Chinta SJ, Lithgow GJ, Andersen JK, Chamoli M., Free PMC Article | 04/17/2021 |
| Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype. | Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Estiar MA, Leveille E, Spiegelman D, Dupre N, Trempe JF, Rouleau GA, Gan-Or Z., Free PMC Article | 04/3/2021 |
| ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress. | ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress.
Vrijsen S, Besora-Casals L, van Veen S, Zielich J, Van den Haute C, Hamouda NN, Fischer C, Ghesquière B, Tournev I, Agostinis P, Baekelandt V, Eggermont J, Lambie E, Martin S, Vangheluwe P., Free PMC Article | 02/2/2021 |
| ATP13A2 deficiency disrupts lysosomal polyamine export | ATP13A2 deficiency disrupts lysosomal polyamine export.
van Veen S, Martin S, Van den Haute C, Benoy V, Lyons J, Vanhoutte R, Kahler JP, Decuypere JP, Gelders G, Lambie E, Zielich J, Swinnen JV, Annaert W, Agostinis P, Ghesquière B, Verhelst S, Baekelandt V, Eggermont J, Vangheluwe P. | 05/30/2020 |
| Result suggests that ATP13A2 may be modifying the lipid digestion capacity and/or the redistribution of lipids in these subcellular organelles. In addition, ATP13A2-overexpression decreased the total content of triglycerides (TGs), cholesterol and lipid droplets. | The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.
Marcos AL, Corradi GR, Mazzitelli LR, Casali CI, Fernández Tome MDC, Adamo HP, de Tezanos Pinto F. | 04/4/2020 |
| We here expand the phenotypic spectrum associated with genetic variants in ATP13A2 that previously comprised Kufor-Rakeb syndrome, spastic paraplegia 78, and neuronal ceroid lipofuscinosis type 12 (CLN12), to also include juvenile-onset ALS, as supported by both genetic and functional data | 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, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N., Free PMC Article | 03/21/2020 |
| results suggest Atp13a2 Isoform-1 protein confers cytoprotection against toxic insults, including those that cause Parkinson's disease syndromes. | Overexpression of human Atp13a2Isoform-1 protein protects cells against manganese and starvation-induced toxicity.
Ugolino J, Dziki KM, Kim A, Wu JJ, Vogel BE, Monteiro MJ., Free PMC Article | 03/21/2020 |
| We used bcftools to filter variants and annovar software for the annotation. Rare variants were prioritised using MetaLR and MetaSVM prediction scores. The effect of a variant on ATP13A2's protein structure was investigated by molecular modelling... Protein modelling showed that the S1004R variant in ATP13A2 possibly alters the conformation of the protein | Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.
Oluwole OG, Kuivaniemi H, Abrahams S, Haylett WL, Vorster AA, van Heerden CJ, Kenyon CP, Tabb DL, Fawale MB, Sunmonu TA, Ajose A, Olaogun MO, Rossouw AC, van Hillegondsberg LS, Carr J, Ross OA, Komolafe MA, Tromp G, Bardien S., Free PMC Article | 03/7/2020 |
| Results find that two missense variants, p.G360E and p.T733M, with "uncertain significance" classification were identified in the ATP13A2 gene and five synonymous variants were significantly over-represented in early-onset Parkinson's disease (EOPD) suggesting they might be associated with higher risk for sporadic EOPD in Chinese population. | Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.
Shen T, Pu J, Lai HY, Xu L, Si X, Yan Y, Jiang Y, Zhang B., Free PMC Article | 11/2/2019 |
| The results suggest that ATP13A2 recruits HDAC6 to lysosomes to deacetylate CTTN and promotes autophagosome-lysosome fusion and autophagy which are impaired in Parkinson disease patients. | ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.
Wang R, Tan J, Chen T, Han H, Tian R, Tan Y, Wu Y, Cui J, Chen F, Li J, Lv L, Guan X, Shang S, Lu J, Zhang Z., Free PMC Article | 10/26/2019 |
| This study showed that the Single Heterozygous ATP13A2 Mutations Cause Cellular Dysfunction Associated with Parkinson's disease. | Single Heterozygous ATP13A2 Mutations Cause Cellular Dysfunction Associated with Parkinson's Disease.
Park JS, Koentjoro B, Klein C, Sue CM. | 08/17/2019 |
| ATP13A2 and SYT11 form a functional network in the regulation of the autophagy-lysosome pathway, which may contribute to forms of Parkinson's Disease-associated neurodegeneration. | The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway.
Bento CF, Ashkenazi A, Jimenez-Sanchez M, Rubinsztein DC., Free PMC Article | 09/29/2018 |
| This study showed that Lysosomal defects in ATP13A2 associated familial Parkinson's disease. | Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease.
Sato S, Li Y, Hattori N. | 06/9/2018 |
| Hereditary Parkinsonism-associated genetic variations in PARK9 locus lead to functional impairment in the ion transport function of this protein. (Review) | Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.
Park JS, Sue CM. | 11/4/2017 |