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Figure Legends Table 1. ACCEPTED MANUSCRIPT PD-associated loci and genes with conclusive evidence Figure 1. Parkin, PINK1 and mitochondrial dynamics. A. Key players of the mitochondrial fusion and fission machinery. For reviews on mitochondrial dynamics see [319-322] B. Transient downregulation of parkin or PINK1 by RNA interference induces alterations in mitochondrial morphology in human SH-SY5Y cells. Control siRNA-transfected cells show a network of tubular mitochondria. Parkin or PINK1 loss of function results in mitochondrial fragmentation, which also occurs in Mfn2- deficient cells due to an relative increase in mitochondrial fission. Figure 2. Mitochondrial alterations associated with PD. ACCEPTED MANUSCRIPT 39
References ACCEPTED MANUSCRIPT [1] M.G. Spillantini, M.L. Schmidt, V.M. Lee, J.Q. Trojanowski, R. Jakes, M. Goedert, Alpha-synuclein in Lewy bodies, Nature 388 (1997) 839-840. [2] J. Hardy, P. Lewis, T. Revesz, A. Lees, C. Paisan-Ruiz, The genetics of Parkinson's syndromes: a critical review, Current opinion in genetics & development 19 (2009) 254-265. [3] V. Bogaerts, J. Theuns, C. van Broeckhoven, Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?, Genes, brain, and behavior 7 (2008) 129-151. [4] C. Henchcliffe, M.F. Beal, Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis, Nature clinical practice 4 (2008) 600-609. [5] V.S. Van Laar, S.B. Berman, Mitochondrial dynamics in Parkinson's disease, Experimental neurology (2009). [6] A.H. Schapira, Mitochondria in the aetiology and pathogenesis of Parkinson's disease, Lancet neurology 7 (2008) 97-109. [7] P.M. Abou-Sleiman, M.M. Muqit, N.W. Wood, Expanding insights of mitochondrial dysfunction in Parkinson's disease, Nature reviews 7 (2006) 207-219. ACCEPTED MANUSCRIPT [8] W. Mandemakers, V.A. Morais, B. De Strooper, A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases, Journal of cell science 120 (2007) 1707-1716. [9] H. Bueler, Impaired mitochondrial dynamics and function in the pathogenesis of Parkinson's disease, Experimental neurology (2009). [10] M. Vila, D. Ramonet, C. Perier, Mitochondrial alterations in Parkinson's disease: new clues, Journal of neurochemistry 107 (2008) 317-328. 40
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Page 39: Acknowledgements ACCEPTED MANUSCRIP
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Page 45 and 46: ACCEPTED MANUSCRIPT biological chem
Page 47 and 48: ACCEPTED MANUSCRIPT [47] B. Janetzk
Page 49 and 50: 486-517. ACCEPTED MANUSCRIPT [63] B
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Page 53 and 54: ACCEPTED MANUSCRIPT variants in idi
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Page 63 and 64: ACCEPTED MANUSCRIPT [163] C. Hampe,
Page 65 and 66: 114-122. ACCEPTED MANUSCRIPT [179]
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