{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T21:36:11Z","timestamp":1771018571741,"version":"3.50.1"},"publisher-location":"Vienna","reference-count":84,"publisher":"Springer Vienna","isbn-type":[{"value":"9783211289273","type":"print"},{"value":"9783211452950","type":"electronic"}],"license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006]]},"DOI":"10.1007\/978-3-211-45295-0_30","type":"book-chapter","created":{"date-parts":[[2006,11,22]],"date-time":"2006-11-22T13:23:35Z","timestamp":1164201815000},"page":"191-204","source":"Crossref","is-referenced-by-count":10,"title":["Progress in familial Parkinson\u2019s disease"],"prefix":"10.1007","author":[{"given":"Y.","family":"Mizuno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Yoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Hatano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Satoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Tomiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"30_CR1","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1093\/hmg\/8.4.567","volume":"8","author":"N. Abbas","year":"1999","unstructured":"Abbas N, L\u00fccking CB, Ricard S, D\u00fcrr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, B\u00f6hme GA, Pradler L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A, the French Parkinson\u2019s Disease Genetics Study Group and the European Consortium on Genetic susceptibility in Parkinson\u2019s Disease (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in europe. Hum Mol Gen 8: 567\u2013574","journal-title":"Hum Mol Gen"},{"key":"30_CR2","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1002\/ana.10675","volume":"54","author":"P.M. Abou-Sleiman","year":"2003","unstructured":"Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW (2003) The role of pathogenic DJ-1 mutations in Parkinson\u2019s disease. Ann Neurol 54: 283\u2013286","journal-title":"Ann Neurol"},{"key":"30_CR3","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s00702-003-0079-6","volume":"111","author":"B.R. Benbunan","year":"2004","unstructured":"Benbunan BR, Korczyn AD, Giladi N (2004) Parkin mutation associated parkinsonism and cognitive decline, comparison to early onset Parkinson\u2019s disease. J Neural Transm 111: 47\u201357","journal-title":"J Neural Transm"},{"key":"30_CR4","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1126\/science.1077209","volume":"299","author":"V. Bonifati","year":"2003","unstructured":"Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MCJ, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299: 256\u2013259","journal-title":"Science"},{"key":"30_CR5","first-page":"5","volume":"1643","author":"L. Bosgraaf","year":"2003","unstructured":"Bosgraaf L, Haastert PJMV (2003) Roc, a Ras\/GTPase domain in complex proteins. BBA 1643: 5\u201310","journal-title":"BBA"},{"key":"30_CR6","doi-asserted-by":"publisher","first-page":"9103","DOI":"10.1073\/pnas.0402959101","volume":"101","author":"R.M. Canet-Aviles","year":"2004","unstructured":"Canet-Aviles RM, Wilson MA, Miller DW, Ahmad R, McLendon C, Bandyopadhyay S, Baptista MJ, Ringe D, Petsko GA, Cookson MR (2004) The Parkinson\u2019s disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci USA 101: 9103\u20139108","journal-title":"Proc Natl Acad Sci USA"},{"key":"30_CR7","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1016\/S0140-6736(04)17103-1","volume":"364","author":"M.C. Chartier-Harlin","year":"2004","unstructured":"Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destee A (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson\u2019s disease. Lancet 364: 1167\u20131169","journal-title":"Lancet"},{"key":"30_CR8","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1038\/nm1001-1144","volume":"7","author":"K.K.K. Chung","year":"2001","unstructured":"Chung KKK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM (2001) Parkin ubiquitinates the alpha-synuclein-interacting protein synphilin-1: implications for Lewy-body formation in Parkinson disease. Nature Med 7: 1144\u20131150","journal-title":"Nature Med"},{"key":"30_CR9","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1002\/mds.10422","volume":"18","author":"M. Dekker","year":"2003","unstructured":"Dekker M, Bonifati V, van Swieten J, Leenders N, Galjaard RJ, Snijders P, Horstink M, Heutink P, Oostra B, van Duijn C (2003) Clinical features and neuroimaging of PARK7-linked parkinsonism. Mov Disord 18: 751\u2013757","journal-title":"Mov Disord"},{"key":"30_CR10","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1002\/ajmg.a.30021","volume":"130","author":"M.C. Dekker","year":"2004","unstructured":"Dekker MC, Galjaard RJ, Snijders PJ, Heutink P, Oostra BA, van Duijn CM (2004) Brachydactyly and short stature in a kindred with early-onset parkinsonism. Am J Med Genet A 130: 102\u2013104","journal-title":"Am J Med Genet A"},{"key":"30_CR11","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/1353-8020(95)00010-4","volume":"1","author":"M. Denson","year":"1995","unstructured":"Denson M, Wszolek ZK (1995) Familial parkinsonism: our experience and review. Parkinsonism Related Disord 1: 35\u201346","journal-title":"Parkinsonism Related Disord"},{"key":"30_CR12","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/S0014-5793(98)01419-7","volume":"440","author":"O.M. Agnaf El","year":"1998","unstructured":"El Agnaf OM, Jakes R, Curran MD, Wallace A (1998) Effects of the mutations Ala30 to Pro and Ala 53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson\u2019s disease. FEBS Lett 440: 67\u201370","journal-title":"FEBS Lett"},{"key":"30_CR13","doi-asserted-by":"publisher","first-page":"2581","DOI":"10.1074\/jbc.275.4.2581","volume":"275","author":"R. Faccio","year":"2000","unstructured":"Faccio R, Fusco C, Chen A, Martinotti S, Bonventre JV, Zervos AS (2000) Characterization of novel human serine protease that has extensive homology to cabterial heat shock endoprotease HtrA and is regulated by kidney ischemia. J Biol Chem 275: 2581\u20132588","journal-title":"J Biol Chem"},{"key":"30_CR14","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1093\/hmg\/8.1.81","volume":"8","author":"M. Farrer","year":"1999","unstructured":"Farrer M, Gwinn-Hardy K, Muenter M, De Vri\u00e8ze FW, Crook R, Prez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Walters C, Hardy JA (1999) A chromosome 4p haplotype segreagating with Parkinson\u2019s disease and postural tremor. Hum Mol Genet 8: 81\u201385","journal-title":"Hum Mol Genet"},{"key":"30_CR15","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1038\/ncb841","volume":"4","author":"H. Fujiwara","year":"2002","unstructured":"Fujiwara H, Hasegawa M, Dohmae N, Kawashima A, Masliah E, Goldberg MS, Shen J, Takio K, Iwatsubo T (2002) Alpha-synuclein is phosphorylated in synucleinopathy lesions. Nat Cell Biol 4: 160\u2013164","journal-title":"Nat Cell Biol"},{"key":"30_CR16","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/ana.10113","volume":"51","author":"M. Funayama","year":"2002","unstructured":"Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F (2002) A New locus for Parkinson\u2019s disease (PARK 8) maps to chromosome 12p11.2-q13.1. Ann Neurol 51: 296\u2013301","journal-title":"Ann Neurol"},{"key":"30_CR17","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1038\/ng0398-262","volume":"18","author":"T. Gasser","year":"1998","unstructured":"Gasser T, M\u00fcller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD (1998) A susceptibility locus for Parkinson\u2019s disease maps to chromosome 2p13. Nature Genet 18: 262\u2013265","journal-title":"Nature Genet"},{"key":"30_CR18","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1002\/ana.410270309","volume":"27","author":"L.I. Golbe","year":"1990","unstructured":"Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC (1990) A large kindred with autosomal dominant Parkinson\u2019s disease. Ann Neurol 27: 276\u2013282","journal-title":"Ann Neurol"},{"key":"30_CR19","doi-asserted-by":"publisher","first-page":"6943","DOI":"10.1074\/jbc.M309204200","volume":"279","author":"K. Gorner","year":"2004","unstructured":"Gorner K, Holtorf E, Odoy S, Nuscher B, Yamamoto A, Regula JT, Beyer K, Haass C, Kahle PJ (2004) Differential effects of Parkinson\u2019s disease-associated mutations on stability and folding of DJ-1. J Biol Chem 279: 6943\u20136951","journal-title":"J Biol Chem"},{"key":"30_CR20","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1002\/ana.10663","volume":"54","author":"S. Hague","year":"2003","unstructured":"Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A (2003) Earlyonset Parkinson\u2019s disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 54: 271\u2013274","journal-title":"Ann Neurol"},{"key":"30_CR21","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1136\/jmg.38.10.680","volume":"38","author":"D.J. Hampshire","year":"2001","unstructured":"Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Ariekat AL, Al-Din A, Woods CG (2001) Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J Med Genet 38: 690\u2013692","journal-title":"J Med Genet"},{"key":"30_CR22","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1002\/ana.20251","volume":"56","author":"Y. Hatano","year":"2004","unstructured":"Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N (2004) Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56: 424\u2013427","journal-title":"Ann Neurol"},{"key":"30_CR23","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1002\/ana.410440612","volume":"44","author":"N. Hattori","year":"1998","unstructured":"Hattori N, Matsumine H, Kitada T, Asakawa S, Yamamura Y, Kobayashi T, Yokochi M, Yoshino H, Wang M, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y (1998) Molecular analysis of a novel ubiquitin-like protein (PARKIN) gene in Japanese families with AR-JP: evidence of homozygous deletions in the PARKIN gene in affected individuals. Ann Neurol 44: 935\u2013941","journal-title":"Ann Neurol"},{"key":"30_CR24","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1212\/01.WNL.0000142089.38301.8E","volume":"63","author":"D.G. Healy","year":"2004","unstructured":"Healy DG, Abou-Sleiman PM, Gibson JM, Ross OA, Jain S, Gandhi S, Gosal D, Muqit MM, Wood NW, Lynch T (2004) PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 63: 1486\u20131488","journal-title":"Neurology"},{"key":"30_CR25","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1002\/mds.20234","volume":"19","author":"K. Hedrich","year":"2004","unstructured":"Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P (2004) Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 19: 1146\u20131157","journal-title":"Mov Disord"},{"key":"30_CR26","first-page":"321","volume":"24","author":"R. Hering","year":"2004","unstructured":"Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O (2004) Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). HumMutat 24: 321\u2013329","journal-title":"HumMutat"},{"key":"30_CR27","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1002\/ana.10324","volume":"52","author":"A.A. Hicks","year":"2002","unstructured":"Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefansson K, Sveinbjornsdottir S (2002) A susceptibility gene for late-onset idiopathic Parkinson\u2019s disease. Ann Neurol 52: 549\u2013555","journal-title":"Ann Neurol"},{"key":"30_CR28","doi-asserted-by":"publisher","first-page":"31380","DOI":"10.1074\/jbc.M305878200","volume":"278","author":"K. Honbou","year":"2003","unstructured":"Honbou K, Suzuki NN, Horiuchi M, Niki T, Taira T, Ariga H, Inagaki F (2003) The crystal structure of DJ-1, a protein related to male fertility and Parkinson\u2019s disease. J Biol Chem 278: 31380\u201331384","journal-title":"J Biol Chem"},{"key":"30_CR29","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1016\/S0140-6736(04)17104-3","volume":"364","author":"P. Ibanez","year":"2004","unstructured":"Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, Pollak P, Agid Y, Durr A, Brice A (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson\u2019s disease. Lancet 364: 1169\u20131171","journal-title":"Lancet"},{"key":"30_CR30","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1016\/S0092-8674(01)00407-X","volume":"105","author":"Y. Imai","year":"2001","unstructured":"Imai Y, Soda M, Inoue H, Hattori N, Mizuno Y, Takahashi R (2001) An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell 105: 891\u2013902","journal-title":"Cell"},{"key":"30_CR31","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1038\/nature02052","volume":"425","author":"J.M. Jones","year":"2003","unstructured":"Jones JM, Datta P, Srinivasula SM, Ji W, Gupta S, Zhang Z, Davies E, Hajnoczky G, Saunders TL, Van Keuren ML, Fernandes-Alnemri T, Meisler MH, Alnemri ES (2003) Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature 425: 721\u2013727","journal-title":"Nature"},{"key":"30_CR32","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1093\/brain\/awg142","volume":"126","author":"N.L. Khan","year":"2003","unstructured":"Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, Bhatia KP, Quinn N (2003) Parkin disease: a phenotypic study of a large case series. Brain 126: 1279\u20131292","journal-title":"Brain"},{"key":"30_CR33","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1038\/33416","volume":"392","author":"T. Kitada","year":"1998","unstructured":"Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Deletion mutation in a novel protein \u201cParkin\u201d gene causes autosomal recessive juvenile parkinsonism (AR-JP). Nature 392: 605\u2013608","journal-title":"Nature"},{"key":"30_CR34","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1038\/ng0298-106","volume":"18","author":"R. Kr\u00fcger","year":"1998","unstructured":"Kr\u00fcger R, Kuhn W, M\u00fcller T, Woitalla D, Graeber M, K\u00f6sel S, Przuntek H, Epplen JT, Sch\u00f6ls L, Riess O (1998) Ala30Pro mutation in the gene encoding \u03b1-synuclein in Parkinson\u2019s disease. Nature Genet 18: 106\u2013108","journal-title":"Nature Genet"},{"key":"30_CR35","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1136\/jnnp.71.2.231","volume":"71","author":"Y. Kuroda","year":"2001","unstructured":"Kuroda Y, Mitsui T, Akaike M, Azuma H, Matsumoto T (2001) Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism. J Neurol Neurosurg Psychiatry 71: 231\u2013234","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"30_CR36","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1038\/26652","volume":"395","author":"E. Leroy","year":"1998","unstructured":"Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH (1998) The ubiquitin pathway in Parkinson\u2019s disease. Nature 395: 451\u2013452","journal-title":"Nature"},{"key":"30_CR37","doi-asserted-by":"publisher","first-page":"1955","DOI":"10.1212\/01.WNL.0000164009.36740.4E","volume":"64","author":"Y. Li","year":"2005","unstructured":"Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Atoda T, Mizuno Y, Hattori H (2005) Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology 64: 1955\u20131957","journal-title":"Neurology"},{"key":"30_CR38","doi-asserted-by":"publisher","first-page":"2002","DOI":"10.1523\/JNEUROSCI.4474-04.2005","volume":"25","author":"K.L. Lim","year":"2005","unstructured":"Lim KL, Chew KC, Tan JM, Wang C, Chung KK, Zhang Y, Tanaka Y, Smith W, Engelender S, Ross CA, Dawson VL, Dawson TM (2005) Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation. J Neurosci 25: 2002\u20132009","journal-title":"J Neurosci"},{"key":"30_CR39","doi-asserted-by":"publisher","first-page":"1306","DOI":"10.1002\/mds.10601","volume":"18","author":"S.J. Lincolon","year":"2003","unstructured":"Lincolon SJ, Maraganore DM, Lesnick TG, Bounds R, Andrade Md, Bower JH, Hardy JA, Farrer MJ (2003) Parkin variants in North American Parkinson\u2019s disease: cases and controls. Mov Disord 18: 1306\u20131311","journal-title":"Mov Disord"},{"key":"30_CR40","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1056\/NEJM200005253422103","volume":"342","author":"C.B. L\u00fccking","year":"2000","unstructured":"L\u00fccking CB, D\u00fcrr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Dene\u00eafle P, Wood NW, Agid Y, Brice A, European Consortium of Genetic Susceptibility in PD, French PD Genetics Study Group (2000) Association between early-onset Parkinson\u2019s disease and mutations in the parkin gene. N Engl J Med 342: 1560\u20131567","journal-title":"N Engl J Med"},{"key":"30_CR41","doi-asserted-by":"publisher","first-page":"2807","DOI":"10.1093\/hmg\/ddg304","volume":"12","author":"M.G. Macedo","year":"2003","unstructured":"Macedo MG, Anar B, Bronner IF, Cannella M, Squitieri F, Bonifati V, Hoogeveen A, Heutink P, Rizzu P (2003) The DJ-1L166P mutant protein associated with early onset Parkinson\u2019s disease is unstable and forms higher-order protein complexes. Hum Mol Genet 12: 2807\u20132816","journal-title":"Hum Mol Genet"},{"key":"30_CR42","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/j.bbrc.2005.04.124","volume":"332","author":"Y. Machida","year":"2005","unstructured":"Machida Y, Chiba T, Takayanagi A, Tanaka Y, Asanuma M, Ogawa N, Koyama A, Iwatsubo T, Ito S, Jansen PH, Shimizu N, Tanaka K, Mizuno Y, Hattori N (2005) Common anti-apoptotic roles of parkin and alpha-synuclein in human dopaminergic cells. Biochem Biophys Res Commun 332: 233\u2013240","journal-title":"Biochem Biophys Res Commun"},{"key":"30_CR43","doi-asserted-by":"publisher","first-page":"9848","DOI":"10.1128\/MCB.24.22.9848-9862.2004","volume":"24","author":"L.M. Martins","year":"2004","unstructured":"Martins LM, Morrison A, Klupsch K, Fedele V, Moisoi N, Teismann P, Abuin A, Grau E, Geppert M, Livi GP, Creasy CL, Martin A, Hargreaves I, Heales SJ, Okada H, Brandner S, Schulz JB, Mak T, Downward J (2004) Neuroprotective role of the Reaper-related serine protease HtrA2\/Omi revealed by targeted deletion in mice. Mol Cell Biol 24: 9848\u20139862","journal-title":"Mol Cell Biol"},{"key":"30_CR44","doi-asserted-by":"publisher","first-page":"36588","DOI":"10.1074\/jbc.M304272200","volume":"278","author":"D.W. Miller","year":"2003","unstructured":"Miller DW, Ahmad R, Hague S, Baptista MJ, Canet-Aviles R, McLendon C, Carter DM, Zhu PP, Stadler J, Chandran J, Klinefelter GR, Blackstone C, Cookson MR (2003) L166P mutant DJ-1, causative for recessive Parkinson\u2019s disease, is degraded through the ubiquitin-proteasome system. J Biol Chem 278: 36588\u201336595","journal-title":"J Biol Chem"},{"key":"30_CR45","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1093\/hmg\/ddi007","volume":"14","author":"D.J. Moore","year":"2005","unstructured":"Moore DJ, Zhang L, Troncoso J, Lee MK, Hattori N, Mizuno Y, Dawson TM, Dawson VL (2005) Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress. Hum Mol Genet 14: 71\u201384","journal-title":"Hum Mol Genet"},{"key":"30_CR46","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1002\/ana.410430612","volume":"43","author":"M.D. Muenter","year":"1998","unstructured":"Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ, Okazaki H, Howard FM Jr, Snow BJ, Calne DB (1998) Hereditary form of parkinsoism-dementia. Ann Neurol 43: 768\u2013781","journal-title":"Ann Neurol"},{"key":"30_CR47","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1006\/bbrc.1997.6132","volume":"231","author":"D. Nagakubo","year":"1997","unstructured":"Nagakubo D, Taira T, Kitaura H, Ikeda M, Tamai K, Iguchi-Ariga SM, Ariga H (1997) DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras. Biochem Biophys Res Commun 231: 509\u2013513","journal-title":"Biochem Biophys Res Commun"},{"key":"30_CR48","first-page":"410","volume":"365","author":"W.C. Nichols","year":"2005","unstructured":"Nichols WC, Pankratz N, Hernandez D, Paisan-Ruiz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T; Parkinson Study Group-PROGENI investigators (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson\u2019s disease. Lancet 365: 410\u2013412","journal-title":"Lancet"},{"key":"30_CR49","first-page":"627","volume":"18","author":"H. Nukada","year":"1978","unstructured":"Nukada H, Kowa H, Saito T, Tasaki Y, Miura S (1978) A big family of paralysis agitans. Rinshoshinkeigaku 18: 627\u2013634","journal-title":"Rinshoshinkeigaku"},{"key":"30_CR50","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S1353-8020(02)00114-1","volume":"9","author":"Y. Okuma","year":"2003","unstructured":"Okuma Y, Hattori N, Mizuno Y (2003) Case report: Sensory neuropathy in autosomal recessive juvenile parkinsonism (PARK2). Parkinsonism Rel Disord 9: 313\u2013314","journal-title":"Parkinsonism Rel Disord"},{"key":"30_CR51","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1002\/ana.10524","volume":"53","author":"S.A. Olivieira","year":"2003","unstructured":"Olivieira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FH Jr, Scott BL, Goetz CG, Small BW, Mastaglia F, Stajich JM, Zhang F, Booze MW, Womm MP, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM (2003) Parkin mutations and susceptibility alleles in late-onset Parkinson\u2019s disease. Ann Neurol 53: 624\u2013629","journal-title":"Ann Neurol"},{"key":"30_CR52","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/j.neuron.2004.10.023","volume":"44","author":"C. Paisan-Ruiz","year":"2004","unstructured":"Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, de Munain AL, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW, Singleton AB (2004) Cloning of the gene containing mutations that cause PARK8-Linked Parkinson\u2019s disease. Neuron 44: 595\u2013600","journal-title":"Neuron"},{"key":"30_CR53","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1086\/374383","volume":"72","author":"N. Pankratz","year":"2003","unstructured":"Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T; Parkinson Study Group (2003) Significant linkage of Parkinson disease to chromosome 2q36\u201337. Am J Hum Genet 72: 1053\u20131057","journal-title":"Am J Hum Genet"},{"key":"30_CR54","doi-asserted-by":"publisher","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","volume":"276","author":"M.H. Polymeropoulos","year":"1997","unstructured":"Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Pike ADB, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the a-synuclein gene identified in families with Parkinson\u2019s disease. Science 276: 2045\u20132047","journal-title":"Science"},{"key":"30_CR55","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1212\/WNL.58.5.808","volume":"58","author":"P.P. Pramistaller","year":"2002","unstructured":"Pramistaller PP, K\u00fcnig G, Leenders K, Kann M, Hedrich K, Vieregge P, Goetz CG, Klein C (2002) Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study. Neurology 58: 808\u2013810","journal-title":"Neurology"},{"key":"30_CR56","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1002\/ana.20247","volume":"56","author":"C.F. Rohe","year":"2004","unstructured":"Rohe CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, Bonifati V (2004) Homozygous PINK1 Cterminus mutation causing early-onset parkinsonism. Ann Neurol 56: 427\u2013431","journal-title":"Ann Neurol"},{"key":"30_CR57","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/12647","volume":"23","author":"K. Saigoh","year":"1999","unstructured":"Saigoh K, Wang YL, Suh JG, Yamanishi T, Sakai Y, Kiyosawa H, Harada T, Ichihara N, Sakana S, Kikuchi T, Wada K(1999) Intragenic deletion in the gene encoding ubiquitin cartoxy-terminal hydrolase in gad mice. Nature Genet 23: 47\u201351","journal-title":"Nature Genet"},{"key":"30_CR58","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1038\/77060","volume":"25","author":"H. Shimura","year":"2000","unstructured":"Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T (2000) Familial Parkinson\u2019s disease gene product, Parkin, is a ubiquitin-protein ligase. Nature Genet 25: 302\u2013305","journal-title":"Nature Genet"},{"key":"30_CR59","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1126\/science.1060627","volume":"293","author":"H. Shimura","year":"2001","unstructured":"Shimura H, Schlossmacher MG, Hattori N, Frosch MP, Trockenbacher A, Schneider R, Mizuno Y, Kosik KS, Selkoe DJ (2001) Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implication for Parkinson\u2019s disease. Science 293: 263\u2013269","journal-title":"Science"},{"key":"30_CR60","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1126\/science.1090278","volume":"302","author":"A.B. Singleton","year":"2003","unstructured":"Singleton AB, Farrer M, Johnston J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller C, Balncato J, Hardy J, Gwinn-Hardy K (2003) Alpha-synuclein locus triplication causes Parkinson\u2019s disease. Science 302: 841","journal-title":"Science"},{"key":"30_CR61","doi-asserted-by":"publisher","first-page":"11753","DOI":"10.1074\/jbc.M208641200","volume":"278","author":"H. Snyder","year":"2003","unstructured":"Snyder H, Mensah K, Theisler C, Lee J, Matouschek A, Wolozin B (2003) Aggregated and monomeric alpha-synuclein bind to the S6\u2032 proteasomal protein and inhibit proteasomal function. J Biol Chem 278: 11753\u201311759","journal-title":"J Biol Chem"},{"key":"30_CR62","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1001\/jama.1962.03050050062014","volume":"179","author":"G.G. Spellman","year":"1962","unstructured":"Spellman GG (1962) Report of familial cases of parkinsonism: evidence of adominant trait in a patient\u2019s family. JAMA 179: 372\u2013374","journal-title":"JAMA"},{"key":"30_CR63","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1038\/42166","volume":"388","author":"M.G. Spillantini","year":"1997","unstructured":"Spillantini MG, Schmidt ML, Lee AMY, Trajanowski JQ, Jakes R, Goedert M (1997) Alpha-synuclein in Lewy bodies. Nature 388: 839\u2013840","journal-title":"Nature"},{"key":"30_CR64","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/ng0497-356","volume":"15","author":"P.A. Steck","year":"1997","unstructured":"Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 15: 356\u2013362","journal-title":"Nat Genet"},{"key":"30_CR65","doi-asserted-by":"publisher","first-page":"2099","DOI":"10.1093\/hmg\/ddi215","volume":"14","author":"K.M. Strauss","year":"2005","unstructured":"Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Muller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz1 JB, Kruger R (2005) Loss of function mutations in the gene encoding Omi\/HtrA2 in Parkinson\u2019s disease. Hum Mol Genet 14: 2099\u20132111","journal-title":"Hum Mol Genet"},{"key":"30_CR66","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1016\/S1097-2765(01)00341-0","volume":"8","author":"Y. Suzuki","year":"2001","unstructured":"Suzuki Y, Imai Y, Nakayama H, Takahashi K, Takio K, Takahashi R (2001) A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death. Mol Cell 8: 613\u2013621","journal-title":"Mol Cell"},{"key":"30_CR67","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/sj.embor.7400074","volume":"5","author":"T. Taira","year":"2004","unstructured":"Taira T, Saito Y, Niki T, Iguchi-Ariga SM, Takahashi K, Ariga H (2004) DJ-1 has a role in antioxidative stress to prevent cell death. EMBO Rep 5: 213\u2013218","journal-title":"EMBO Rep"},{"key":"30_CR68","first-page":"235","volume":"1695","author":"K. Tanaka","year":"2004","unstructured":"Tanaka K, Suzuki T, Hattori N, Mizuno Y (2004) Ubiquitin, proteasome and parkin. BBA 1695: 235\u2013247","journal-title":"BBA"},{"key":"30_CR69","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1093\/hmg\/10.9.919","volume":"10","author":"Y. Tanaka","year":"2001","unstructured":"Tanaka Y, Engelender S, Igarashi S, Rao RK, Wanner T, Tanzi RE, Dawson V, Dawson TM, Ross CA (2001) Inducible expression of mutant alpha-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis. Hum Mol Genet 10: 919\u2013926","journal-title":"Hum Mol Genet"},{"key":"30_CR70","doi-asserted-by":"publisher","first-page":"31372","DOI":"10.1074\/jbc.M304221200","volume":"278","author":"X. Tao","year":"2003","unstructured":"Tao X, Tong L (2003) Crystal structure of human DJ-1, a protein associated with early onset Parkinson\u2019s disease. J Biol Chem 278: 31372\u201331379","journal-title":"J Biol Chem"},{"key":"30_CR71","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1086\/301934","volume":"63","author":"J. Tassin","year":"1998","unstructured":"Tassin J, D\u00fcrr A, de Brouchker T, Abbas N, Bonifati V, Michele GD, Bonnet AM, Broussolle E, Pollak P, Vidaihet M, Mari MD, Marconi R, Madjbeur S, Filla A, Meco G, Yves A, Brice A, The French Parkinson\u2019s Disease Genetics Study Group, The European Consortium on Genetic Susceptibility in Parkinson\u2019s Disease (1998) Chromosome 6-linked autosomal recessive early-onset parkinsonism; linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. Am J Hum Genet 63: 88\u201394","journal-title":"Am J Hum Genet"},{"key":"30_CR72","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1086\/319522","volume":"68","author":"E.M. Valente","year":"2001","unstructured":"Valente EM, Bentivolglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW (2001) Localization of a novel locus for autoromal recessive early-onset parkinsonims, PARK6, on human chromosome 1p35\u201336. Am J Hum Genet 68: 895\u2013900","journal-title":"Am J Hum Genet"},{"key":"30_CR73","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1126\/science.1096284","volume":"304","author":"E.M. Valente","year":"2004","unstructured":"Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (2004) Hereditary early-onset Parkinson\u2019s disease caused by mutations in PINK1. Science 304: 1158\u20131160","journal-title":"Science"},{"key":"30_CR74","doi-asserted-by":"publisher","first-page":"4595","DOI":"10.1021\/bi0121353","volume":"41","author":"M.J. Volles","year":"2002","unstructured":"Volles MJ, Lansbury PT Jr (2002) Vesicle permeabilization by protofibrillar alpha-synuclein is sensitive to Parkinson\u2019s disease-linked mutations and occurs by a pore-like mechanism. Biochemistry 41: 4595\u20134602","journal-title":"Biochemistry"},{"key":"30_CR75","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1002\/ana.410350110","volume":"35","author":"C.H. Waters","year":"1994","unstructured":"Waters CH, Miller CA (1994) Autosomal-dominant Lewy body parkinsonism in a four-generation family. Ann Neurol 35: 59\u201364","journal-title":"Ann Neurol"},{"key":"30_CR76","doi-asserted-by":"publisher","first-page":"13709","DOI":"10.1021\/bi961799n","volume":"35","author":"P.H. Weinreb","year":"1996","unstructured":"Weinreb PH, Zhen W, Poon AW, Conway KA, Lansbury PT Jr (1996) NACP, a protein implicated in Alzheimer\u2019s disease and learning, is natively unfolded. Biochemistry 35: 13709\u201313715","journal-title":"Biochemistry"},{"key":"30_CR77","doi-asserted-by":"publisher","first-page":"9256","DOI":"10.1073\/pnas.1133288100","volume":"100","author":"M.A. Wilson","year":"2003","unstructured":"Wilson MA, Collins JL, Hod Y, Ringe D, Petsko GA (2003) The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson\u2019s disease. Proc Natl Acad Sci USA 100: 9256\u20139261","journal-title":"Proc Natl Acad Sci USA"},{"key":"30_CR78","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1212\/WNL.45.3.502","volume":"45","author":"Z.K. Wszolek","year":"1995","unstructured":"Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, Uitti RJ, Calne DB, Pfeiffer RF (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology 45: 502\u2013505","journal-title":"Neurology"},{"key":"30_CR79","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1212\/01.WNL.0000125015.06989.DB","volume":"62","author":"Z.K. Wszolek","year":"2004","unstructured":"Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Muller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW (2004) Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62: 1619\u20131622","journal-title":"Neurology"},{"key":"30_CR80","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1212\/WNL.23.3.239","volume":"23","author":"Y. Yamamura","year":"1973","unstructured":"Yamamura Y, Sobue I, Ando K, Iida M, Yanagi T, Kono C (1973) Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 23: 239\u2013244","journal-title":"Neurology"},{"key":"30_CR81","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/S1353-8020(98)00015-7","volume":"4","author":"Y. Yamamura","year":"1998","unstructured":"Yamamura Y, Kuzuhara S, Kondo K, Matsumine H, Mizuno Y (1998) Clinical, pathologic, and genetic studies on autosomal recessive early-onset parkinsonism with diurnal fluctuation. Parkinsonism Rel Disord 4: 65\u201372","journal-title":"Parkinsonism Rel Disord"},{"key":"30_CR82","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1002\/ana.10795","volume":"55","author":"J.J. Zarranz","year":"2004","unstructured":"Zarranz JJ, Alegre J, G\u00e9mez-Esteban J, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atar\u00e9s B, Llorens V, Tortosa EG, del Ser T, Mu\u00f1iz DG, de Yebenes JG (2004) The new mutation, E46K, of alpha-synuclein causes Parkinsona dn Lewy body dementia. Ann Neurol 55: 164\u2013173","journal-title":"Ann Neurol"},{"key":"30_CR83","doi-asserted-by":"publisher","first-page":"13354","DOI":"10.1073\/pnas.240347797","volume":"21","author":"Y. Zhang","year":"2000","unstructured":"Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM (2000) Parkin functions as an E2 dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle associated protein, CDCrel-1. Proc Natl Acad Sci USA 21: 13354\u201313359","journal-title":"Proc Natl Acad Sci USA"},{"key":"30_CR84","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1016\/j.neuron.2004.11.005","volume":"44","author":"A. Zimprich","year":"2004","unstructured":"Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44: 601\u2013607","journal-title":"Neuron"}],"container-title":["Parkinson\u2019s Disease and Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-211-45295-0_30","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,16]],"date-time":"2019-05-16T04:07:49Z","timestamp":1557979669000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-211-45295-0_30"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"ISBN":["9783211289273","9783211452950"],"references-count":84,"URL":"https:\/\/doi.org\/10.1007\/978-3-211-45295-0_30","relation":{},"subject":[],"published":{"date-parts":[[2006]]}}}