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Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
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, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Valente EM, et al. Among authors: harvey k, harvey rj. Science. 2004 May 21;304(5674):1158-60. doi: 10.1126/science.1096284. Epub 2004 Apr 15. Science. 2004. PMID: 15087508
A heterozygous effect for PINK1 mutations in Parkinson's disease?
Abou-Sleiman PM, Muqit MM, McDonald NQ, Yang YX, Gandhi S, Healy DG, Harvey K, Harvey RJ, Deas E, Bhatia K, Quinn N, Lees A, Latchman DS, Wood NW. Abou-Sleiman PM, et al. Among authors: harvey k, harvey rj. Ann Neurol. 2006 Oct;60(4):414-9. doi: 10.1002/ana.20960. Ann Neurol. 2006. PMID: 16969854
Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress.
Muqit MM, Abou-Sleiman PM, Saurin AT, Harvey K, Gandhi S, Deas E, Eaton S, Payne Smith MD, Venner K, Matilla A, Healy DG, Gilks WP, Lees AJ, Holton J, Revesz T, Parker PJ, Harvey RJ, Wood NW, Latchman DS. Muqit MM, et al. Among authors: harvey k, harvey rj. J Neurochem. 2006 Jul;98(1):156-69. doi: 10.1111/j.1471-4159.2006.03845.x. J Neurochem. 2006. PMID: 16805805 Free article.
PINK1 cleavage at position A103 by the mitochondrial protease PARL.
Deas E, Plun-Favreau H, Gandhi S, Desmond H, Kjaer S, Loh SH, Renton AE, Harvey RJ, Whitworth AJ, Martins LM, Abramov AY, Wood NW. Deas E, et al. Among authors: harvey rj. Hum Mol Genet. 2011 Mar 1;20(5):867-79. doi: 10.1093/hmg/ddq526. Epub 2010 Dec 6. Hum Mol Genet. 2011. PMID: 21138942 Free PMC article.
GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization.
Harvey RJ, Depner UB, Wässle H, Ahmadi S, Heindl C, Reinold H, Smart TG, Harvey K, Schütz B, Abo-Salem OM, Zimmer A, Poisbeau P, Welzl H, Wolfer DP, Betz H, Zeilhofer HU, Müller U. Harvey RJ, et al. Among authors: harvey k. Science. 2004 May 7;304(5672):884-7. doi: 10.1126/science.1094925. Science. 2004. PMID: 15131310 Free article.
Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control.
Strobbe D, Robinson AA, Harvey K, Rossi L, Ferraina C, de Biase V, Rodolfo C, Harvey RJ, Campanella M. Strobbe D, et al. Among authors: harvey k, harvey rj. Front Mol Neurosci. 2018 Mar 15;11:68. doi: 10.3389/fnmol.2018.00068. eCollection 2018. Front Mol Neurosci. 2018. PMID: 29599708 Free PMC article.
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. Kumar RA, et al. Among authors: harvey k, harvey rj. Hum Mol Genet. 2010 Jul 15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12. Hum Mol Genet. 2010. PMID: 20466733 Free PMC article.
524 results