Page 131 - Read Online

greater pathogenicity in familial PD than simple sequence mutations. Cell 2002;111:209‑18.
Neurology 2009;73:279‑86. 115. Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G,
100. Valente EM, Abou‑Sleiman PM, Caputo V, Muqit MM, Harvey K, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C,
Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH. The
Nussbaum R, González‑Maldonado R, Deller T, Salvi S, Cortelli P, ubiquitin pathway in Parkinson’s disease. Nature 1998;395:451‑2.
Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, 116. Maraganore DM, Lesnick TG, Elbaz A, Chartier‑Harlin MC, Gasser T,
Wood NW. Hereditary early‑onset Parkinson’s disease caused by Krüger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T,
mutations in PINK1. Science 2004;304:1158‑60. Wang J, Ioannidis JP, de Andrade M, Rocca WA; UCHL1 Global
101. Tan EK, Yew K, Chua E, Puvan K, Shen H, Lee E, Puong KY, Zhao Y, Genetics Consortium. UCHL1 is a Parkinson’s disease susceptibility
Pavanni R, Wong MC, Jamora D, de Silva D, Moe KT, Woon FP, gene. Ann Neurol 2004;55:512‑21.
Yuen Y, Tan L. PINK1 mutations in sporadic early‑onset Parkinson’s 117. Healy DG, Abou‑Sleiman PM, Casas JP, Ahmadi KR, Lynch T,
disease. Mov Disord 2006;21:789‑93. Gandhi S, Muqit MM, Foltynie T, Barker R, Bhatia KP, Quinn NP,
102. Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Lees AJ, Gibson JM, Holton JL, Revesz T, Goldstein DB, Wood NW.
Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, UCHL‑1 is not a Parkinson’s disease susceptibility gene. Ann Neurol
Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, 2006;59:627‑33.
Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, 118. Gray CW, Ward RV, Karran E, Turconi S, Rowles A, Viglienghi D,
Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian Southan C, Barton A, Fantom KG, West A, Savopoulos J,
PD Study Group. PINK1 heterozygous rare variants: prevalence, Hassan NJ, Clinkenbeard H, Hanning C, Amegadzie B, Davis JB,
significance and phenotypic spectrum. Hum Mutat 2008;29:565. Dingwall C, Livi GP, Creasy CL. Characterization of human HtrA2,
103. Plun‑Favreau H, Hardy J. PINK1 in mitochondrial function. Proc a novel serine protease involved in the mammalian cellular stress
Natl Acad Sci U S A 2008;105:11041‑2. response. Eur J Biochem 2000;267:5699‑710.
104. Valente EM, Abou‑Sleiman PM, Caputo V, Muqit MM, Harvey K, 119. Park HJ, Seong YM, Choi JY, Kang S, Rhim H. Alzheimer’s
Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, disease‑associated amyloid beta interacts with the human serine
Nussbaum R, González‑Maldonado R, Deller T, Salvi S, Cortelli P, protease HtrA2/Omi. Neurosci Lett 2004;357:63‑7.
Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, 120. Martins LM, Morrison A, Klupsch K, Fedele V, Moisoi N, Teismann P,
Wood NW. Hereditary early‑onset Parkinson’s disease caused by Abuin A, Grau E, Geppert M, Livi GP, Creasy CL, Martin A,
mutations in PINK1. Science 2004;304:1158‑60. Hargreaves I, Heales SJ, Okada H, Brandner S, Schulz JB, Mak T,
105. Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Downward J. Neuroprotective role of the Reaper‑related serine
Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, protease HtrA2/Omi revealed by targeted deletion in mice. Mol
Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Cell Biol 2004;24:9848‑62.
Maat‑Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, 121. Strauss KM, Martins LM, Plun‑Favreau H, Marx FP, Kautzmann S,
Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Berg D, Gasser T, Wszolek Z, Müller T, Bornemann A, Wolburg H,
Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Downward J, Riess O, Schulz JB, Krüger R. Loss of function
Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson mutations in the gene encoding Omi/HtrA2 in Parkinson’s disease.
Genetics Network. Early‑onset parkinsonism associated with PINK1 Hum Mol Genet 2005;14:2099‑111.
mutations: frequency, genotypes, and phenotypes. Neurology 122. Simón‑Sánchez J, Singleton AB. Sequencing analysis of OMI/HTRA2
2005;65:87‑95. shows previously reported pathogenic mutations in neurologically
106. Ibáñez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, normal controls. Hum Mol Genet 2008;17:1988‑93.
Agid Y, Dürr A, Brice A; French Parkinson’s Disease Genetics 123. Bogaerts V, Nuytemans K, Reumers J, Pals P, Engelborghs S,
Study Group. Mutational analysis of the PINK1 gene in early‑onset Pickut B, Corsmit E, Peeters K, Schymkowitz J, De Deyn PP, Cras P,
parkinsonism in Europe and North Africa. Brain 2006;129:686‑94. Rousseau F, Theuns J, Van Broeckhoven C. Genetic variability in
107. Nagakubo D, Taira T, Kitaura H, Ikeda M, Tamai K, Iguchi‑Ariga SM, the mitochondrial serine protease HTRA2 contributes to risk for
Ariga H. DJ‑1, a novel oncogene which transforms mouse Parkinson disease. Hum Mutat 2008;29:832‑40.
NIH3T3 cells in cooperation with ras. Biochem Biophys Res 124. Krüger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C,
Commun 1997;231:509‑13. Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A,
108. Kim RH, Peters M, Jang Y, Shi W, Pintilie M, Fletcher GC, DeLuca C, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM,
Liepa J, Zhou L, Snow B, Binari RC, Manoukian AS, Bray MR, Hattori N, Ioannidis JP, Jasinska‑Myga B, Klein C, Lambert JC,
Liu FF, Tsao MS, Mak TW. DJ‑1, a novel regulator of the tumor Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G,
suppressor PTEN. Cancer Cell 2005;7:263‑73. Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK,
109. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G,
Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Maraganore DM; Genetic Epidemiology of Parkinson’s disease
Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, consortium. A large‑scale genetic association study to evaluate
Oostra BA, Heutink P. Mutations in the DJ‑1 gene associated the contribution of Omi/HtrA2 (PARK13) to Parkinson’s disease.
with autosomal recessive early‑onset parkinsonism. Science Neurobiol Aging 2011;32:548.e9‑18.
2003;299:256‑9. 125. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C,
110. Abou‑Sleiman PM, Healy DG, Wood NW. Causes of Parkinson’s Conneally PM, Foroud T; Parkinson Study Group. Genome screen
disease: genetics of DJ‑1. Cell Tissue Res 2004;318:185‑8. to identify susceptibility genes for Parkinson disease in a sample
111. Lev N, Ickowicz D, Melamed E, Offen D. Oxidative insults without parkin mutations. Am J Hum Genet 2002;71:124‑35.
induce DJ‑1 upregulation and redistribution: implications for 126. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C,
neuroprotection. Neurotoxicology 2008;29:397‑405. Conneally PM, Foroud T; Parkinson Study Group. Significant linkage
112. Bonifati V, Oostra BA, Heutink P. Linking DJ‑1 to neurodegeneration of Parkinson disease to chromosome 2q36‑37. Am J Hum Genet
offers novel insights for understanding the pathogenesis of 2003;72:1053‑7.
Parkinson’s disease. J Mol Med (Berl) 2004;82:163‑74. 127. Lautier C, Goldwurm S, Dürr A, Giovannone B, Tsiaras WG,
113. Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, Toda T, Hattori N. Pezzoli G, Brice A, Smith RJ. Mutations in the GIGYF2 (TNRC15)
Mutation analysis for DJ‑1 in sporadic and familial parkinsonism: gene at the PARK11 locus in familial Parkinson disease. Am J Hum
screening strategy in parkinsonism. Neurosci Lett 2009;455:159‑61. Genet 2008;82:822‑33.
114. Liu Y, Fallon L, Lashuel HA, Liu Z, Lansbury PT Jr. The UCH‑L1 128. Bras J, Simón‑Sánchez J, Federoff M, Morgadinho A, Januario C,
gene encodes two opposing enzymatic activities that affect Ribeiro M, Cunha L, Oliveira C, Singleton AB. Lack of replication
alpha‑synuclein degradation and Parkinson’s disease susceptibility. of association between GIGYF2 variants and Parkinson disease.

Neuroimmunol Neuroinflammation | Volume 1 | Issue 3 | December 2014 125