{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T23:15:30Z","timestamp":1792451730039,"version":"4.5.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2006,9,10]],"date-time":"2006-09-10T00:00:00Z","timestamp":1157846400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2006,10]]},"DOI":"10.1038\/ng1884","type":"journal-article","created":{"date-parts":[[2006,9,10]],"date-time":"2006-09-10T18:12:19Z","timestamp":1157911939000},"page":"1184-1191","source":"Crossref","is-referenced-by-count":1072,"title":["Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase"],"prefix":"10.1038","volume":"38","author":[{"given":"Alfredo","family":"Ramirez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Heimbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Gr\u00fcndemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Stiller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Hampshire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L Pablo","family":"Cid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Goebel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ammar F","family":"Mubaidin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul-Latif","family":"Wriekat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Roeper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Al-Din","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Axel M","family":"Hillmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meliha","family":"Karsak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Liss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C Geoffrey","family":"Woods","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria I","family":"Behrens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Kubisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,9,10]]},"reference":[{"key":"BFng1884_CR1","doi-asserted-by":"publisher","first-page":"1356","DOI":"10.1056\/NEJM2003ra020003","volume":"348","author":"RL Nussbaum","year":"2003","unstructured":"Nussbaum, R.L. & Ellis, C.E. Alzheimer's disease and Parkinson's disease. N. Engl. J. Med. 348, 1356\u20131364 (2003).","journal-title":"N. Engl. J. Med."},{"issue":"Suppl.","key":"BFng1884_CR2","doi-asserted-by":"publisher","first-page":"S58","DOI":"10.1038\/nm1068","volume":"10","author":"M Vila","year":"2004","unstructured":"Vila, M. & Przedborski, S. Genetic clues to the pathogenesis of Parkinson's disease. Nat. Med. 10 (Suppl.), S58\u2013S62 (2004).","journal-title":"Nat. Med."},{"key":"BFng1884_CR3","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1038\/nrm1552","volume":"6","author":"A Ciechanover","year":"2005","unstructured":"Ciechanover, A. Proteolysis: from the lysosome to ubiquitin and the proteasome. Nat. Rev. Mol. Cell Biol. 6, 79\u201387 (2005).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFng1884_CR4","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1146\/annurev.biochem.74.082803.133400","volume":"74","author":"MR Cookson","year":"2005","unstructured":"Cookson, M.R. The biochemistry of Parkinson's disease. Annu. Rev. Biochem. 74, 29\u201352 (2005).","journal-title":"Annu. Rev. Biochem."},{"key":"BFng1884_CR5","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1126\/science.1087753","volume":"302","author":"TM Dawson","year":"2003","unstructured":"Dawson, T.M. & Dawson, V.L. Molecular pathways of neurodegeneration in Parkinson's disease. Science 302, 819\u2013822 (2003).","journal-title":"Science"},{"key":"BFng1884_CR6","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1038\/ncb1104-1054","volume":"6","author":"DJ Selkoe","year":"2004","unstructured":"Selkoe, D.J. Cell biology of protein misfolding: the examples of Alzheimer's and Parkinson's diseases. Nat. Cell Biol. 6, 1054\u20131061 (2004).","journal-title":"Nat. Cell Biol."},{"key":"BFng1884_CR7","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1111\/j.1600-0404.1994.tb02645.x","volume":"89","author":"AS Najim al-Din","year":"1994","unstructured":"Najim al-Din, A.S., Wriekat, A., Mubaidin, A., Dasouki, M. & Hiari, M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol. Scand. 89, 347\u2013352 (1994).","journal-title":"Acta Neurol. Scand."},{"key":"BFng1884_CR8","doi-asserted-by":"publisher","first-page":"1264","DOI":"10.1002\/mds.20511","volume":"20","author":"DR Williams","year":"2005","unstructured":"Williams, D.R., Hadeed, A., Al-Din, A.S., Wreikat, A.L. & Lees, A.J. Kufor Rakeb Disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov. Disord. 20, 1264\u20131271 (2005).","journal-title":"Mov. Disord."},{"key":"BFng1884_CR9","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1007\/PL00006286","volume":"46","author":"KB Axelsen","year":"1998","unstructured":"Axelsen, K.B. & Palmgren, M.G. Evolution of substrate specificities in the P-type ATPase superfamily. J. Mol. Evol. 46, 84\u2013101 (1998).","journal-title":"J. Mol. Evol."},{"key":"BFng1884_CR10","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1136\/jmg.38.10.680","volume":"38","author":"DJ Hampshire","year":"2001","unstructured":"Hampshire, D.J. et al. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J. Med. Genet. 38, 680\u2013682 (2001).","journal-title":"J. Med. Genet."},{"key":"BFng1884_CR11","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1038\/33416","volume":"392","author":"T Kitada","year":"1998","unstructured":"Kitada, T. et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392, 605\u2013608 (1998).","journal-title":"Nature"},{"key":"BFng1884_CR12","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s10072-003-0108-0","volume":"24","author":"V Bonifati","year":"2003","unstructured":"Bonifati, V. et al. DJ-1 (PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurol. Sci. 24, 159\u2013160 (2003).","journal-title":"Neurol. Sci."},{"key":"BFng1884_CR13","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1126\/science.1096284","volume":"304","author":"EM Valente","year":"2004","unstructured":"Valente, E.M. et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304, 1158\u20131160 (2004).","journal-title":"Science"},{"key":"BFng1884_CR14","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1038\/nrm1354","volume":"5","author":"W Kuhlbrandt","year":"2004","unstructured":"Kuhlbrandt, W. Biology, structure and mechanism of P-type ATPases. Nat. Rev. Mol. Cell Biol. 5, 282\u2013295 (2004).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFng1884_CR15","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1016\/j.bbrc.2004.08.156","volume":"323","author":"PJ Schultheis","year":"2004","unstructured":"Schultheis, P.J. et al. Characterization of the P5 subfamily of P-type transport ATPases in mice. Biochem. Biophys. Res. Commun. 323, 731\u2013738 (2004).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFng1884_CR16","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1016\/j.ygeno.2005.04.002","volume":"86","author":"DA Kwasnicka-Crawford","year":"2005","unstructured":"Kwasnicka-Crawford, D.A. et al. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Genomics 86, 182\u2013194 (2005).","journal-title":"Genomics"},{"key":"BFng1884_CR17","doi-asserted-by":"publisher","first-page":"8839","DOI":"10.1523\/JNEUROSCI.19-20-08839.1999","volume":"19","author":"B Liss","year":"1999","unstructured":"Liss, B., Neu, A. & Roeper, J. The weaver mouse gain-of-function phenotype of dopaminergic midbrain neurons is determined by coactivation of wvGirk2 and K-ATP channels. J. Neurosci. 19, 8839\u20138848 (1999).","journal-title":"J. Neurosci."},{"key":"BFng1884_CR18","doi-asserted-by":"publisher","first-page":"5715","DOI":"10.1093\/emboj\/20.20.5715","volume":"20","author":"B Liss","year":"2001","unstructured":"Liss, B. et al. Tuning pacemaker frequency of individual dopaminergic neurons by Kv4.3L and KChip3.1 transcription. EMBO J. 20, 5715\u20135724 (2001).","journal-title":"EMBO J."},{"key":"BFng1884_CR19","doi-asserted-by":"publisher","first-page":"e89","DOI":"10.1093\/nar\/gnf088","volume":"30","author":"B Liss","year":"2002","unstructured":"Liss, B. Improved quantitative real-time RT-PCR for expression profiling of individual cells. Nucleic Acids Res. 30, e89 (2002).","journal-title":"Nucleic Acids Res."},{"key":"BFng1884_CR20","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/1471-2199-7-3","volume":"7","author":"A Schroeder","year":"2006","unstructured":"Schroeder, A. et al. The RIN: an RNA integrity number for assigning integrity values to RNA measurements. BMC Mol. Biol. 7, 3 (2006).","journal-title":"BMC Mol. Biol."},{"key":"BFng1884_CR21","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1016\/j.ceb.2004.09.012","volume":"16","author":"RV Rao","year":"2004","unstructured":"Rao, R.V. & Bredesen, D.E. Misfolded proteins, endoplasmic reticulum stress and neurodegeneration. Curr. Opin. Cell Biol. 16, 653\u2013662 (2004).","journal-title":"Curr. Opin. Cell Biol."},{"key":"BFng1884_CR22","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1038\/360597a0","volume":"360","author":"Y Murakami","year":"1992","unstructured":"Murakami, Y. et al. Ornithine decarboxylase is degraded by the 26S proteasome without ubiquitination. Nature 360, 597\u2013599 (1992).","journal-title":"Nature"},{"key":"BFng1884_CR23","doi-asserted-by":"publisher","first-page":"1596","DOI":"10.1007\/s00018-004-4133-9","volume":"61","author":"MA Hoyt","year":"2004","unstructured":"Hoyt, M.A. & Coffino, P. Ubiquitin-free routes into the proteasome. Cell. Mol. Life Sci. 61, 1596\u20131600 (2004).","journal-title":"Cell. Mol. Life Sci."},{"key":"BFng1884_CR24","doi-asserted-by":"publisher","first-page":"1888","DOI":"10.1523\/JNEUROSCI.3809-03.2004","volume":"24","author":"HJ Lee","year":"2004","unstructured":"Lee, H.J., Khoshaghideh, F., Patel, S. & Lee, S.J. Clearance of \u03b1-synuclein oligomeric intermediates via the lysosomal degradation pathway. J. Neurosci. 24, 1888\u20131896 (2004).","journal-title":"J. Neurosci."},{"key":"BFng1884_CR25","doi-asserted-by":"publisher","first-page":"25009","DOI":"10.1074\/jbc.M300227200","volume":"278","author":"JL Webb","year":"2003","unstructured":"Webb, J.L., Ravikumar, B., Atkins, J., Skepper, J.N. & Rubinsztein, D.C. \u03b1-synuclein is degraded by both autophagy and the proteasome. J. Biol. Chem. 278, 25009\u201325013 (2003).","journal-title":"J. Biol. Chem."},{"key":"BFng1884_CR26","doi-asserted-by":"publisher","first-page":"1292","DOI":"10.1126\/science.1101738","volume":"305","author":"AM Cuervo","year":"2004","unstructured":"Cuervo, A.M., Stefanis, L., Fredenburg, R., Lansbury, P.T. & Sulzer, D. Impaired degradation of mutant \u03b1-synuclein by chaperone-mediated autophagy. Science 305, 1292\u20131295 (2004).","journal-title":"Science"},{"key":"BFng1884_CR27","doi-asserted-by":"publisher","first-page":"1972","DOI":"10.1056\/NEJMoa033277","volume":"351","author":"J Aharon-Peretz","year":"2004","unstructured":"Aharon-Peretz, J., Rosenbaum, H. & Gershoni-Baruch, R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 351, 1972\u20131977 (2004).","journal-title":"N. Engl. J. Med."},{"key":"BFng1884_CR28","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1136\/jmg.2004.024455","volume":"41","author":"O Goker-Alpan","year":"2004","unstructured":"Goker-Alpan, O. et al. Parkinsonism among Gaucher disease carriers. J. Med. Genet. 41, 937\u2013940 (2004).","journal-title":"J. Med. Genet."},{"key":"BFng1884_CR29","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1038\/ng1203-292","volume":"35","author":"H Auer","year":"2003","unstructured":"Auer, H. et al. Chipping away at the chip bias: RNA degradation in microarray analysis. Nat. Genet. 35, 292\u2013293 (2003).","journal-title":"Nat. Genet."},{"key":"BFng1884_CR30","doi-asserted-by":"publisher","first-page":"e56","DOI":"10.1093\/nar\/gni054","volume":"33","author":"S Imbeaud","year":"2005","unstructured":"Imbeaud, S. et al. Towards standardization of RNA quality assessment using user-independent classifiers of microcapillary electrophoresis traces. Nucleic Acids Res. 33, e56 (2005).","journal-title":"Nucleic Acids Res."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1884.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1884","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1884.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:12:40Z","timestamp":1684447960000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,10]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["BFng1884"],"URL":"https:\/\/doi.org\/10.1038\/ng1884","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,10]]}}}