{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:47:43Z","timestamp":1790232463788,"version":"4.1.0"},"reference-count":81,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["30700243"],"award-info":[{"award-number":["30700243"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2010SZ0086"],"award-info":[{"award-number":["2010SZ0086"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Sichuan Key Project of Science and Technology","award":["30700243"],"award-info":[{"award-number":["30700243"]}]},{"name":"Sichuan Key Project of Science and Technology","award":["2010SZ0086"],"award-info":[{"award-number":["2010SZ0086"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Parkinson\u2019s disease (PD) is a major neurodegenerative disorder for which the etiology and pathogenesis remain as elusive as for Alzheimer's disease. PD appears to be caused by genetic and environmental factors, and pedigree and cohort studies have identified numerous susceptibility genes and loci related to PD. Autosomal recessive mutations in the genes<jats:italic>Parkin, Pink1, DJ-1, ATP13A2, PLA2G6<\/jats:italic>, and<jats:italic>FBXO7<\/jats:italic>have been linked to PD susceptibility. Such mutations in<jats:italic>ATP13A2<\/jats:italic>, also named<jats:italic>PARK9<\/jats:italic>, were first identified in 2006 in a Chilean family and are associated with a juvenile-onset, levodopa-responsive type of Parkinsonism called Kufor-Rakeb syndrome (KRS). KRS involves pyramidal degeneration, supranuclear palsy, and cognitive impairment. Here we review current knowledge about the<jats:italic>ATP13A2<\/jats:italic>gene, clinical characteristics of patients with PD-associated<jats:italic>ATP13A2<\/jats:italic>mutations, and models of how the ATP13A2 protein may help prevent neurodegeneration by inhibiting<jats:italic>\u03b1<\/jats:italic>-synuclein aggregation and supporting normal lysosomal and mitochondrial function. We also discuss another<jats:italic>ATP13A2<\/jats:italic>mutation that is associated with the family of neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs), and we propose a single pathway whereby<jats:italic>ATP13A2<\/jats:italic>mutations may contribute to NCLs and Parkinsonism. Finally, we highlight how studies of mutations in this gene may provide new insights into PD pathogenesis and identify potential therapeutic targets.<\/jats:p>","DOI":"10.1155\/2014\/371256","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T18:07:44Z","timestamp":1408039664000},"page":"1-9","source":"Crossref","is-referenced-by-count":58,"title":["Mutations in the<i>ATP13A2<\/i>Gene and Parkinsonism: A Preliminary Review"],"prefix":"10.1155","volume":"2014","author":[{"given":"Xinglong","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanming","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041, 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