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UCHL1 is a Parkinson's disease susceptibility gene.
Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, Krüger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JP, de Andrade M, Rocca WA; UCHL1 Global Genetics Consortium. Maraganore DM, et al. Among authors: kruger r. Ann Neurol. 2004 Apr;55(4):512-21. doi: 10.1002/ana.20017. Ann Neurol. 2004. PMID: 15048890
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Müller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Krüger R. Strauss KM, et al. Among authors: kruger r. Hum Mol Genet. 2005 Aug 1;14(15):2099-111. doi: 10.1093/hmg/ddi215. Epub 2005 Jun 16. Hum Mol Genet. 2005. PMID: 15961413
Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin.
Exner N, Treske B, Paquet D, Holmström K, Schiesling C, Gispert S, Carballo-Carbajal I, Berg D, Hoepken HH, Gasser T, Krüger R, Winklhofer KF, Vogel F, Reichert AS, Auburger G, Kahle PJ, Schmid B, Haass C. Exner N, et al. Among authors: kruger r. J Neurosci. 2007 Nov 7;27(45):12413-8. doi: 10.1523/JNEUROSCI.0719-07.2007. J Neurosci. 2007. PMID: 17989306 Free PMC article.
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
Elstner M, Morris CM, Heim K, Lichtner P, Bender A, Mehta D, Schulte C, Sharma M, Hudson G, Goldwurm S, Giovanetti A, Zeviani M, Burn DJ, McKeith IG, Perry RH, Jaros E, Krüger R, Wichmann HE, Schreiber S, Campbell H, Wilson JF, Wright AF, Dunlop M, Pistis G, Toniolo D, Chinnery PF, Gasser T, Klopstock T, Meitinger T, Prokisch H, Turnbull DM. Elstner M, et al. Among authors: kruger r. Ann Neurol. 2009 Dec;66(6):792-8. doi: 10.1002/ana.21780. Ann Neurol. 2009. PMID: 20035503 Free PMC article.
1,068 results