-
1
-
-
0345490853
-
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe
-
Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, OostraBA, Fabrizio E, Böhme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum Mol Genet 8:567-574
-
(1999)
Hum Mol Genet
, vol.8
, pp. 567-574
-
-
Abbas, N.1
Lücking, C.B.2
Ricard, S.3
Dürr, A.4
Bonifati, V.5
De Michele, G.6
Bouley, S.7
Vaughan, J.R.8
Gasser, T.9
Marconi, R.10
Broussolle, E.11
Brefel-Courbon, C.12
Harhangi, B.S.13
Oostra, B.A.14
Fabrizio, E.15
Böhme, G.A.16
Pradier, L.17
Wood, N.W.18
Filla, A.19
Meco, G.20
Denefle, P.21
Agid, Y.22
Brice, A.23
more..
-
2
-
-
33750598457
-
A heterozygous effect for PINK1 mutations in Parkinsons 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 (2006a) A heterozygous effect for PINK1 mutations in Parkinsons disease? Ann Neurol 60:414-419
-
(2006)
Ann Neurol
, vol.60
, pp. 414-419
-
-
Abou-Sleiman, P.M.1
Muqit, M.M.2
McDonald, N.Q.3
Yang, Y.X.4
Gandhi, S.5
Healy, D.G.6
Harvey, K.7
Harvey, R.J.8
Deas, E.9
Bhatia, K.10
Quinn, N.11
Lees, A.12
Latchman, D.S.13
Wood, N.W.14
-
3
-
-
33644543761
-
Expanding insights of mitochondrial dysfunction in Parkinsons disease
-
Abou-Sleiman PM, Muqit MM, Wood NW (2006b) Expanding insights of mitochondrial dysfunction in Parkinsons disease. Nat Rev Neurosci 7:207-219
-
(2006)
Nat Rev Neurosci
, vol.7
, pp. 207-219
-
-
Abou-Sleiman, P.M.1
Muqit, M.M.2
Wood, N.W.3
-
4
-
-
0242353332
-
Identification and characterization of acommon set of complex i assembly intermediates in mitochondriafrom patients with complex i deficiency
-
Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA (2003) Identification and characterization of acommon set of complex I assembly intermediates in mitochondriafrom patients with complex I deficiency. J Biol Chem 278:43081-43088
-
(2003)
J Biol Chem
, vol.278
, pp. 43081-43088
-
-
Antonicka, H.1
Ogilvie, I.2
Taivassalo, T.3
Anitori, R.P.4
Haller, R.G.5
Vissing, J.6
Kennaway, N.G.7
Shoubridge, E.A.8
-
5
-
-
0344736798
-
Loss of m-AAA protease in mitochondriacauses complex i deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
-
Atorino L, Silvestri L, Koppen M, CassinaL, Ballabio A, Marconi R, Langer T, Casari G (2003) Loss of m-AAA protease in mitochondriacauses complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163:777-787
-
(2003)
J Cell Biol
, vol.163
, pp. 777-787
-
-
Atorino, L.1
Silvestri, L.2
Koppen, M.3
Cassinal Ballabio, A.4
Marconi, R.5
Langer, T.6
Casari, G.7
-
6
-
-
0034988212
-
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex i deficiency
-
Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A (2001) Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 68:1344-1352
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1344-1352
-
-
Bénit, P.1
Chretien, D.2
Kadhom, N.3
De Lonlay-Debeney, P.4
Cormier-Daire, V.5
Cabral, A.6
Peudenier, S.7
Rustin, P.8
Munnich, A.9
Rötig, A.10
-
7
-
-
0037903268
-
Mutant NDUFV2 subunit of mitochondrial complex i causes early onset hypertrophic cardiomyopathy and encephalopathy
-
Bénit P, Beugnot R, Chretien D, GiurgeaI, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rötig A, Munnich A (2003) Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat 21:582-586
-
(2003)
Hum Mutat
, vol.21
, pp. 582-586
-
-
Bénit, P.1
Beugnot, R.2
Chretien, D.3
Giurgea, I.4
De Lonlay-Debeney, P.5
Issartel, J.P.6
Corral-Debrinski, M.7
Kerscher, S.8
Rustin, P.9
Rötig, A.10
Munnich, A.11
-
8
-
-
9144221957
-
Mutant NDUFS3 subunit of mitochondrial complex i causes Leigh syndrome
-
Bénit P, Slama A, Cartault F, GiurgeaI, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P (2004) Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet 41:14-17
-
(2004)
J Med Genet
, vol.41
, pp. 14-17
-
-
Bénit, P.1
Slama Cartault, A.F.2
Giurgeai Chretien, D.3
Lebon, S.4
Marsac, C.5
Munnich, A.6
Rötig, A.7
Rustin, P.8
-
9
-
-
41849090449
-
Mitochondrial complex i deficiency caused by adeleterious NDUFA11 mutation
-
Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O (2008) Mitochondrial complex I deficiency caused by adeleterious NDUFA11 mutation. Ann Neurol 63:405-408
-
(2008)
Ann Neurol
, vol.63
, pp. 405-408
-
-
Berger, I.1
Hershkovitz, E.2
Shaag, A.3
Edvardson, S.4
Saada, A.5
Elpeleg, O.6
-
10
-
-
22044432781
-
Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes
-
Network Italian Parkinson Genetics
-
Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, MontagnaP, Toni V, Guidi M, DallaLiberaA, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, BarbosaE, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, OostraBA, Network Italian Parkinson Genetics (2005) Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65:87-95
-
(2005)
Neurology
, vol.65
, pp. 87-95
-
-
Bonifati, V.1
Rohé, C.F.2
Breedveld, G.J.3
Fabrizio, E.4
De Mari, M.5
Tassorelli, C.6
Tavella, A.7
Marconi, R.8
Nicholl, D.J.9
Chien, H.F.10
Fincati, E.11
Abbruzzese, G.12
Marini, P.13
De Gaetano, A.14
Horstink, M.W.15
Maat-Kievit, J.A.16
Sampaio, C.17
Antonini, A.18
Stocchi, F.19
Montagnap Toni, V.20
Guidi, M.21
Dallalibera, A.22
Tinazzi, M.23
De Pandis, F.24
Fabbrini, G.25
Goldwurm, S.26
De Klein, A.27
Barbosae Lopiano, L.28
Martignoni, E.29
Lamberti, P.30
Vanacore, N.31
Meco, G.32
Oostra, B.A.33
more..
-
11
-
-
33746329868
-
Energy converting NADH: Quinone oxidoreductase (complex I)
-
Brandt U (2006) Energy converting NADH: quinone oxidoreductase (complex I). Annu Rev Biochem 75:69-92
-
(2006)
Annu Rev Biochem
, vol.75
, pp. 69-92
-
-
Brandt, U.1
-
12
-
-
0034682974
-
Combined enzymatic complex i and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene
-
Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA (2000) Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun 275:63-68
-
(2000)
Biochem Biophys Res Commun
, vol.275
, pp. 63-68
-
-
Budde, S.M.1
Van Den Heuvel, L.P.2
Janssen, A.J.3
Smeets, R.J.4
Buskens, C.A.5
Demeirleir, L.6
Van Coster, R.7
Baethmann, M.8
Voit, T.9
Trijbels, J.M.10
Smeitink, J.A.11
-
13
-
-
67649756320
-
Impaired mitochondrial dynamics and function in the pathogenesis of Parkinsons disease
-
Büeler H (2009) Impaired mitochondrial dynamics and function in the pathogenesis of Parkinsons disease. Exp Neurol 218:235-246
-
(2009)
Exp Neurol
, vol.218
, pp. 235-246
-
-
Büeler, H.1
-
14
-
-
9644275464
-
Clinical and molecular findings in children with complex i deficiency
-
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, FarinaL, SpadaM, Donati MA, Uziel G, Zeviani M (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659:136-147
-
(2004)
Biochim Biophys Acta
, vol.1659
, pp. 136-147
-
-
Bugiani, M.1
Invernizzi, F.2
Alberio, S.3
Briem, E.4
Lamantea, E.5
Carrara, F.6
Moroni, I.7
Farina, L.8
Spada, M.9
Donati, M.A.10
Uziel, G.11
Zeviani, M.12
-
15
-
-
0033028388
-
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Lebers hereditary optic neuropathy
-
Carelli V, Ghelli A, Bucchi L, MontagnaP, De Negri A, Leuzzi V, Carducci C, Lenaz G, Lugaresi E, Degli Esposti M (1999) Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Lebers hereditary optic neuropathy. Ann Neurol 45:320-328
-
(1999)
Ann Neurol
, vol.45
, pp. 320-328
-
-
Carelli, V.1
Ghelli, A.2
Bucchi, L.3
Montagna, P.4
De Negri, A.5
Leuzzi, V.6
Carducci, C.7
Lenaz, G.8
Lugaresi, E.9
Degli Esposti, M.10
-
16
-
-
0035182136
-
The mitochondrial ND6 gene is ahot spot for mutations that cause Lebers hereditary optic neuropathy
-
Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-EvaP, Lindley J, Applegarth DA, Turnbull DM, Howell N (2001) The mitochondrial ND6 gene is ahot spot for mutations that cause Lebers hereditary optic neuropathy. Brain 124:209-218
-
(2001)
Brain
, vol.124
, pp. 209-218
-
-
Chinnery, P.F.1
Brown, D.T.2
Andrews, R.M.3
Singh-Kler, R.4
Riordan-Eva, P.5
Lindley, J.6
Applegarth, D.A.7
Turnbull, D.M.8
Howell, N.9
-
18
-
-
40849092781
-
Mitochondrial energetics and insulin resistance
-
Civitarese AE, Ravussin E (2008) Mitochondrial energetics and insulin resistance. Endocrinology 149:950-954
-
(2008)
Endocrinology
, vol.149
, pp. 950-954
-
-
Civitarese, A.E.1
Ravussin, E.2
-
19
-
-
33745589773
-
Drosophilapink1 is required for mitochondrial function and interacts genetically with parkin
-
Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH, Yoo SJ, Hay BA, Guo M (2006) Drosophilapink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441:1163-1166
-
(2006)
Nature
, vol.441
, pp. 1163-1166
-
-
Clark, I.E.1
Dodson, M.W.2
Jiang, C.3
Cao, J.H.4
Huh, J.R.5
Seol, J.H.6
Yoo, S.J.7
Hay, B.A.8
Guo, M.9
-
20
-
-
33748351613
-
PINK1 homozygous W437X mutation in apatient with apparent dominant transmission of parkinsonism
-
Criscuolo C, Volpe G, De Rosa A, Varrone A, Marongiu R, Mancini P, Salvatore E, Dallapiccola B, Filla A, Valente EM, De Michele G (2006) PINK1 homozygous W437X mutation in apatient with apparent dominant transmission of parkinsonism. Mov Disord 21:1265-1267
-
(2006)
Mov Disord
, vol.21
, pp. 1265-1267
-
-
Criscuolo, C.1
Volpe, G.2
De Rosa, A.3
Varrone, A.4
Marongiu, R.5
Mancini, P.6
Salvatore, E.7
Dallapiccola, B.8
Filla, A.9
Valente, E.M.10
De Michele, G.11
-
21
-
-
4043086952
-
Mitochondriain health and disease: Perspectives on anew mitochondrial biology
-
Duchen MR (2004) Mitochondriain health and disease: perspectives on anew mitochondrial biology. Mol Aspects Med 25:365-451
-
(2004)
Mol Aspects Med
, vol.25
, pp. 365-451
-
-
Duchen, M.R.1
-
22
-
-
34447312250
-
Human CIA30 is involved in the early assembly of mitochondrial complex i and mutations in its gene cause disease
-
Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT (2007) Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. EMBO J 26:3227-3237
-
(2007)
EMBO J
, vol.26
, pp. 3227-3237
-
-
Dunning, C.J.1
McKenzie, M.2
Sugiana Lazarou, C.M.3
Silke, J.4
Connelly, A.5
Fletcher, J.M.6
Kirby, D.M.7
Thorburn, D.R.8
Ryan, M.T.9
-
23
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF (2008) Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 83:254-260
-
(2008)
Am J Hum Genet
, vol.83
, pp. 254-260
-
-
Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
Relton, C.L.4
Chinnery, P.F.5
-
24
-
-
33645116252
-
Genetics of Parkinson disease: Paradigm shifts and future prospects
-
Farrer MJ (2006) Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 7:306-318
-
(2006)
Nat Rev Genet
, vol.7
, pp. 306-318
-
-
Farrer, M.J.1
-
25
-
-
33846846449
-
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
-
Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J (2007) X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol 61:73-83
-
(2007)
Ann Neurol
, vol.61
, pp. 73-83
-
-
Fernandez-Moreira, D.1
Ugalde, C.2
Smeets, R.3
Rodenburg, R.J.4
Lopez-Laso, E.5
Ruiz-Falco, M.L.6
Briones, P.7
Martin, M.A.8
Smeitink, J.A.9
Arenas, J.10
-
26
-
-
55949128232
-
Emerging pathways in genetic Parkinsons disease: Autosomal-recessive genes in Parkinsons disease-acommon pathway?
-
Fitzgerald JC, Plun-Favreau H (2008) Emerging pathways in genetic Parkinsons disease: autosomal-recessive genes in Parkinsons disease-acommon pathway? FEBS J 275:5758-5766
-
(2008)
FEBS J
, vol.275
, pp. 5758-5766
-
-
Fitzgerald, J.C.1
Plun-Favreau, H.2
-
27
-
-
3042535032
-
The gross structure of the respiratory complex I: ALego System
-
Friedrich T, Böttcher B (2004) The gross structure of the respiratory complex I: aLego System. Biochim Biophys Acta 1657:71-83
-
(2004)
Biochim Biophys Acta
, vol.1657
, pp. 71-83
-
-
Friedrich, T.1
Böttcher, B.2
-
28
-
-
33745087689
-
PINK1 protein in normal human brain and Parkinsons disease
-
Gandhi S, Muqit MM, Stanyer L, Healy DG, Abou-Sleiman PM, Hargreaves I, Heales S, Ganguly M, Parsons L, Lees AJ, Latchman DS, Holton JL, Wood NW, Revesz T (2006) PINK1 protein in normal human brain and Parkinsons disease. Brain 129:1720-1731
-
(2006)
Brain
, vol.129
, pp. 1720-1731
-
-
Gandhi, S.1
Muqit, M.M.2
Stanyer, L.3
Healy, D.G.4
Abou-Sleiman, P.M.5
Hargreaves, I.6
Heales, S.7
Ganguly, M.8
Parsons, L.9
Lees, A.J.10
Latchman, D.S.11
Holton, J.L.12
Wood, N.W.13
Revesz, T.14
-
29
-
-
75949130828
-
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
-
Geisler S, Holmström KM, Skujat D, Fiesel FC, Rothfuss OC, Kahle PJ, Springer W (2010) PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol 12:119-131
-
(2010)
Nat Cell Biol
, vol.12
, pp. 119-131
-
-
Geisler, S.1
Holmström, K.M.2
Skujat, D.3
Fiesel, F.C.4
Rothfuss, O.C.5
Kahle, P.J.6
Springer, W.7
-
30
-
-
28844458065
-
Free radicalsmediated damage in transmitochondrial cells harbouring the T14487C mutation in the ND6 gene of mtDNA
-
Gonzalo R, Garcia-Arumi E, Llige D, Marti R, Solano A, MontoyaJ, Arenas J, Andreu AL (2005) Free radicalsmediated damage in transmitochondrial cells harbouring the T14487C mutation in the ND6 gene of mtDNA. FEBS Lett 579:6909-6913
-
(2005)
FEBS Lett
, vol.579
, pp. 6909-6913
-
-
Gonzalo, R.1
Garcia-Arumi, E.2
Llige, D.3
Marti, R.4
Solano, A.5
Montoyaj Arenas, J.6
Andreu, A.L.7
-
31
-
-
7244261867
-
Distribution, type, and origin of Parkin mutations: Review and case studies
-
Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-SantanaH, 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 19:1146-1157
-
(2004)
Mov Disord
, vol.19
, pp. 1146-1157
-
-
Hedrich, K.1
Eskelson, C.2
Wilmot, B.3
Marder, K.4
Harris, J.5
Garrels, J.6
Meija-Santana, H.7
Vieregge, P.8
Jacobs, H.9
Bressman, S.B.10
Lang, A.E.11
Kann, M.12
Abbruzzese, G.13
Martinelli, P.14
Schwinger, E.15
Ozelius, L.J.16
Pramstaller, P.P.17
Klein, C.18
Kramer, P.19
-
32
-
-
0038771142
-
The nuclear encoded subunits of complex i from bovine heart mitochondria
-
Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE (2003) The nuclear encoded subunits of complex I from bovine heart mitochondria. Biochim Biophys Acta 1604:135-150
-
(2003)
Biochim Biophys Acta
, vol.1604
, pp. 135-150
-
-
Hirst, J.1
Carroll, J.2
Fearnley, I.M.3
Shannon, R.J.4
Walker, J.E.5
-
33
-
-
44449163314
-
NDUFA2 complex i mutation leads to Leigh disease
-
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP (2008) NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet 82:1306-1315
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1306-1315
-
-
Hoefs, S.J.1
Dieteren, C.E.2
Distelmaier, F.3
Janssen, R.J.4
Epplen, A.5
Swarts, H.G.6
Forkink, M.7
Rodenburg, R.J.8
Nijtmans, L.G.9
Willems, P.H.10
Smeitink, J.A.11
Van Den Heuvel, L.P.12
-
34
-
-
43249112094
-
ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis
-
Ishikawa K, Takenaga K, Akimoto M, Koshikawa N, Yamaguchi A, Imanishi H, Nakada K, Honma Y, Hayashi J (2008) ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis. Science 320:661-664
-
(2008)
Science
, vol.320
, pp. 661-664
-
-
Ishikawa, K.1
Takenaga, K.2
Akimoto, M.3
Koshikawa, N.4
Yamaguchi, A.5
Imanishi, H.6
Nakada, K.7
Honma, Y.8
Hayashi, J.9
-
35
-
-
34547623918
-
Quality control of eukaryotic mRNA: Safeguarding cells from abnormal mRNA function
-
Isken O, Maquat LE (2007) Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev 21:1833-1856
-
(2007)
Genes Dev
, vol.21
, pp. 1833-1856
-
-
Isken, O.1
Maquat, L.E.2
-
36
-
-
33744515907
-
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex i
-
Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M, Papa S (2006) Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. J Biol Chem 281:10374-10380
-
(2006)
J Biol Chem
, vol.281
, pp. 10374-10380
-
-
Iuso, A.1
Scacco, S.2
Piccoli, C.3
Bellomo, F.4
Petruzzella, V.5
Trentadue, R.6
Minuto, M.7
Ripoli, M.8
Capitanio, N.9
Zeviani, M.10
Papa, S.11
-
38
-
-
33646948530
-
Parkinsons disease brain mitochondrial complex i has oxidatively damaged subunits and is functionally impaired and misassembled
-
Keeney PM, Xie J, Capaldi RA, Bennett JP Jr (2006) Parkinsons disease brain mitochondrial complex I has oxidatively damaged subunits and is functionally impaired and misassembled. J Neurosci 26(19):5256-5264
-
(2006)
J Neurosci
, vol.26
, Issue.19
, pp. 5256-5264
-
-
Keeney, P.M.1
Xie, J.2
Capaldi, R.A.3
Bennett, Jr.J.P.4
-
39
-
-
56049091236
-
PINK1 controls mitochondrial localization of Parkin through direct phosphorylation
-
Kim Y, Park J, Kim S, Song S, Kwon SK, Lee SH, Kitada T, Kim JM, Chung J (2008) PINK1 controls mitochondrial localization of Parkin through direct phosphorylation. Biochem Biophys Res Commun 377:975-980
-
(2008)
Biochem Biophys Res Commun
, vol.377
, pp. 975-980
-
-
Kim, Y.1
Park, J.2
Kim, S.3
Song, S.4
Kwon, S.K.5
Lee, S.H.6
Kitada, T.7
Kim, J.M.8
Chung, J.9
-
40
-
-
0032893995
-
Respiratory chain complex i defi-ciency: An underdiagnosed energy generation disorder
-
Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR (1999) Respiratory chain complex I defi-ciency: an underdiagnosed energy generation disorder. Neurology 52:1255-1264
-
(1999)
Neurology
, vol.52
, pp. 1255-1264
-
-
Kirby, D.M.1
Crawford, M.2
Cleary, M.A.3
Dahl, H.H.4
Dennett, X.5
Thorburn, D.R.6
-
41
-
-
8844244960
-
NDUFS6 mutations are anovel cause of lethal neonatal mitochondrial complex i deficiency
-
Kirby DM, Salemi R, Sugiana C, Ohta Ke A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR (2004) NDUFS6 mutations are anovel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 114:837-845
-
(2004)
J Clin Invest
, vol.114
, pp. 837-845
-
-
Kirby, D.M.1
Salemi, R.2
Sugiana, C.3
Ohta, Ke.A.4
Parry, L.5
Bell, K.M.6
Kirk, E.P.7
Boneh, A.8
Taylor, R.W.9
Dahl, H.H.10
Ryan, M.T.11
Thorburn, D.R.12
-
42
-
-
0032499264
-
Mutations in the Parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Mutations in the Parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
Matsumine, H.4
Yamamura, Y.5
Minoshima, S.6
Yokochi, M.7
Mizuno, Y.8
Shimizu, N.9
-
43
-
-
0032497504
-
Parkinsons disease. First of two parts
-
Lang AE, Lozano AM (1998) Parkinsons disease. First of two parts. N Engl J Med 339:1044-1053
-
(1998)
N Engl J Med
, vol.339
, pp. 1044-1053
-
-
Lang, A.E.1
Lozano, A.M.2
-
44
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
45
-
-
33750347347
-
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
-
Lin MT, Beal MF (2006) Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 443:787-795
-
(2006)
Nature
, vol.443
, pp. 787-795
-
-
Lin, M.T.1
Beal, M.F.2
-
46
-
-
0032471351
-
The first nuclear-encoded complex i mutation in apatient with Leigh syndrome
-
Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L (1998) The first nuclear-encoded complex I mutation in apatient with Leigh syndrome. Am J Hum Genet 63:1598-1608
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1598-1608
-
-
Loeffen, J.1
Smeitink, J.2
Triepels, R.3
Smeets, R.4
Schuelke, M.5
Sengers, R.6
Trijbels, F.7
Hamel, B.8
Mullaart, R.9
Van Den Heuvel, L.10
-
47
-
-
0033967568
-
Isolated complex i deficiency in children: Clinical, biochemical and genetic aspects
-
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP (2000) Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 15:123-134
-
(2000)
Hum Mutat
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
Janssen, A.J.4
Triepels, R.H.5
Sengers, R.C.6
Van Den Heuvel, L.P.7
-
48
-
-
0035132188
-
Mutations in the complex i NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
-
Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stöckler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L (2001) Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. Ann Neurol 49:195-201
-
(2001)
Ann Neurol
, vol.49
, pp. 195-201
-
-
Loeffen, J.1
Elpeleg, O.2
Smeitink, J.3
Smeets, R.4
Stöckler-Ipsiroglu, S.5
Mandel, H.6
Sengers, R.7
Trijbels, F.8
Van Den Heuvel, L.9
-
49
-
-
0342368772
-
Association between early-onset Parkinsons disease and mutations in the Parkin gene
-
French Parkinsons Disease Genetics Study Group, European Consortium on Genetic Susceptibility in Parkinsons Disease
-
Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denèfle P, Wood NW, Agid Y, Brice A, French Parkinsons Disease Genetics Study Group, European Consortium on Genetic Susceptibility in Parkinsons Disease (2000) Association between early-onset Parkinsons disease and mutations in the Parkin gene. N Engl J Med 342:1560-1567
-
(2000)
N Engl J Med
, vol.342
, pp. 1560-1567
-
-
Lücking, C.B.1
Dürr, A.2
Bonifati, V.3
Vaughan, J.4
De Michele, G.5
Gasser, T.6
Harhangi, B.S.7
Meco, G.8
Denèfle, P.9
Wood, N.W.10
Agid, Y.11
Brice, A.12
-
50
-
-
0035845715
-
Pseudo-dominant inheritance and exon 2 triplication in afamily with parkin gene mutations
-
Lücking CB, Bonifati V, Periquet M, Vanacore N, Brice A, Meco G (2001) Pseudo-dominant inheritance and exon 2 triplication in afamily with parkin gene mutations. Neurology 57:924-927
-
(2001)
Neurology
, vol.57
, pp. 924-927
-
-
Lücking, C.B.1
Bonifati, V.2
Periquet, M.3
Vanacore, N.4
Brice, A.5
Meco, G.6
-
51
-
-
78651126508
-
A case of severe hypermetabolism of nonthyroid origin with adefect in the maintenance of mitochondrial respiratory control: Acorrelated clinical, biochemical, and morphological study
-
Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B (1962) A case of severe hypermetabolism of nonthyroid origin with adefect in the maintenance of mitochondrial respiratory control: acorrelated clinical, biochemical, and morphological study. J Clin Invest 41:1776-1804
-
(1962)
J Clin Invest
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
52
-
-
0028017694
-
Diphenyleneiodonium inhibits reduction of iron-sulfur clusters in the mitochondrial NADH-ubiquinone oxidoreductase (Complex I)
-
Majander A, Finel M, Wikstrom M (1994) Diphenyleneiodonium inhibits reduction of iron-sulfur clusters in the mitochondrial NADH-ubiquinone oxidoreductase (Complex I). J Biol Chem 269:21037-21042
-
(1994)
J Biol Chem
, vol.269
, pp. 21037-21042
-
-
Majander, A.1
Finel, M.2
Wikstrom, M.3
-
53
-
-
77951181836
-
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondriaand activates latent Parkin for mitophagy
-
MatsudaN, Sato S, ShibaK, Okatsu K, Saisho K, Gautier CA, Sou Y, Saiki S, Kawajiri S, Sato F, Kimura M, Komatsu M, Hattori N, Tanaka K (2010) PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondriaand activates latent Parkin for mitophagy. J Cell Biol 189:211-221
-
(2010)
J Cell Biol
, vol.189
, pp. 211-221
-
-
Matsuda, N.1
Sato, S.2
Shiba, K.3
Okatsu, K.4
Saisho, K.5
Gautier, C.A.6
Sou, Y.7
Saiki, S.8
Kawajiri, S.9
Sato, F.10
Kimura, M.11
Komatsu, M.12
Hattori, N.13
Tanaka, K.14
-
54
-
-
58149302896
-
Parkin mitochondriain the autophagosome
-
McBride HM (2008) Parkin mitochondriain the autophagosome. J Cell Biol 183:757-759
-
(2008)
J Cell Biol
, vol.183
, pp. 757-759
-
-
McBride, H.M.1
-
55
-
-
57749100375
-
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts
-
Mortiboys H, Thomas KJ, Koopman WJ, Klaffke S, Abou-Sleiman P, Olpin S, Wood NW, Willems PH, Smeitink JA, Cookson MR, Bandmann O (2008) Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol 64:555-565
-
(2008)
Ann Neurol
, vol.64
, pp. 555-565
-
-
Mortiboys, H.1
Thomas, K.J.2
Koopman, W.J.3
Klaffke, S.4
Abou-Sleiman, P.5
Olpin, S.6
Wood, N.W.7
Willems, P.H.8
Smeitink, J.A.9
Cookson, M.R.10
Bandmann, O.11
-
56
-
-
4544326057
-
Mitochondrial complex i and IV activities in leukocytes from patients with parkin mutations
-
Muftuoglu M, Elibol B, Dalmizrak O, Ercan A, Kulaksiz G, Ogus H, Dalkara T, Ozer N (2004) Mitochondrial complex I and IV activities in leukocytes from patients with parkin mutations. Mov Disord 19:544-548
-
(2004)
Mov Disord
, vol.19
, pp. 544-548
-
-
Muftuoglu, M.1
Elibol, B.2
Dalmizrak, O.3
Ercan, A.4
Kulaksiz, G.5
Ogus, H.6
Dalkara, T.7
Ozer, N.8
-
57
-
-
58149314211
-
Parkin is recruited selectively to impaired mitochondriaand promotes their autophagy
-
Narendra D, Tanaka A, Suen DF, Youle RJ (2008) Parkin is recruited selectively to impaired mitochondriaand promotes their autophagy. J Cell Biol 183:795-803
-
(2008)
J Cell Biol
, vol.183
, pp. 795-803
-
-
Narendra, D.1
Tanaka, A.2
Suen, D.F.3
Youle, R.J.4
-
58
-
-
26444488636
-
A molecular chaperone for mitochondrial complex i assembly is mutated in aprogressive encephalopathy
-
Ogilvie I, Kennaway NG, Shoubridge EA (2005) A molecular chaperone for mitochondrial complex I assembly is mutated in aprogressive encephalopathy. J Clin Invest 115:2784-2792
-
(2005)
J Clin Invest
, vol.115
, pp. 2784-2792
-
-
Ogilvie, I.1
Kennaway, N.G.2
Shoubridge, E.A.3
-
59
-
-
0032490089
-
Iron-sulfur clusters/semiquinones in complex i
-
Ohnishi T (1998) Iron-sulfur clusters/semiquinones in complex I. Biochim Biophys Acta 1364:186-206
-
(1998)
Biochim Biophys Acta 1364
, pp. 186-206
-
-
Ohnishi, T.1
-
60
-
-
24044481623
-
Conformation-driven and semiquinone-gated proton-pump mechanism in the NADHubiquinone oxidoreductase (complex I)
-
Ohnishi T, Salerno JC (2005) Conformation-driven and semiquinone-gated proton-pump mechanism in the NADHubiquinone oxidoreductase (complex I). FEBS Lett 579:4555-4561
-
(2005)
FEBS Lett
, vol.579
, pp. 4555-4561
-
-
Ohnishi, T.1
Salerno, J.C.2
-
61
-
-
0034962860
-
Mitochondriaand degenerative disorders
-
Orth M, Schapira AHV (2001) Mitochondriaand degenerative disorders. Am J Med Genet 106:27-36
-
(2001)
Am J Med Genet
, vol.106
, pp. 27-36
-
-
Orth, M.1
Ahv, S.2
-
62
-
-
46349103594
-
A mitochondrial protein compendium elucidates complex i disease biology
-
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell 134:112-123
-
(2008)
Cell
, vol.134
, pp. 112-123
-
-
Pagliarini, D.J.1
Calvo, S.E.2
Chang, B.3
Sheth, S.A.4
Vafai, S.B.5
Ong, S.E.6
Walford, G.A.7
Sugiana, C.8
Boneh, A.9
Chen, W.K.10
Hill, D.E.11
Vidal, M.12
Evans, J.G.13
Thorburn, D.R.14
Carr, S.A.15
Mootha, V.K.16
-
63
-
-
2442481789
-
Mitochondrial dysfunction and oxidative damage in parkin-deficient mice
-
Palacino JJ, Sagi D, Goldberg MS, Krauss S, Motz C, Wacker M, Klose J, Shen J (2004) Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J Biol Chem 279:18614-18622
-
(2004)
J Biol Chem
, vol.279
, pp. 18614-18622
-
-
Palacino, J.J.1
Sagi, D.2
Goldberg, M.S.3
Krauss, S.4
Motz, C.5
Wacker, M.6
Klose, J.7
Shen, J.8
-
64
-
-
50949095466
-
The regulation of PTC containing transcripts of the human NDUFS4 gene of complex i of respiratory chain and the impact of pathological mutations
-
Panelli D, Petruzzella V, Vitale R, De Rasmo D, Munnich A, Rötig A, Papa S (2008) The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations. Biochimie 90:1452-1460
-
(2008)
Biochimie
, vol.90
, pp. 1452-1460
-
-
Panelli, D.1
Petruzzella, V.2
Vitale, R.3
De Rasmo, D.4
Munnich, A.5
Rötig, A.6
Papa, S.7
-
65
-
-
0030581498
-
Mitochondrial oxidative phosphorylation changes in the life span. Molecular aspects and physiopathological implications
-
Papa S (1996) Mitochondrial oxidative phosphorylation changes in the life span. Molecular aspects and physiopathological implications. Biochim Biophys Acta 1276 87-105
-
(1996)
Biochim Biophys Acta
, vol.1276
, pp. 87-105
-
-
Papa, S.1
-
66
-
-
46349109572
-
Proton pumps of respiratory chain enzymes
-
Papa S, Guerrieri F, Tager JM (eds) Plenum Press, London/New York
-
Papa S, Capitanio N, Villani G (1999) Proton pumps of respiratory chain enzymes. In: Papa S, Guerrieri F, Tager JM (eds) Frontiers of cellular bioenenergetics: molecular biology, biochemistry and physiopathology. Plenum Press, London/New York, pp 49-88
-
(1999)
Frontiers of Cellular Bioenenergetics: Molecular Biology, Biochemistry and Physiopathology
, pp. 49-88
-
-
Papa, S.1
Capitanio, N.2
Villani, G.3
-
67
-
-
0035793474
-
Mutation in the NDUFS4 gene of complex i abolishes cAMP-dependent activation of the complex in achild with fatal neurological syndrome
-
Papa S, Scacco S, Sardanelli AM, Vergari R, Papa F, Budde S, van den Heuvel L, Smeitink J (2001) Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in achild with fatal neurological syndrome. FEBS Lett 489:259-262
-
(2001)
FEBS Lett
, vol.489
, pp. 259-262
-
-
Papa, S.1
Scacco, S.2
Sardanelli, A.M.3
Vergari, R.4
Papa, F.5
Budde, S.6
Van Den Heuvel, L.7
Smeitink, J.8
-
68
-
-
84900972913
-
Structure, redox-coupled protonmotive activity and pathological disorders of respiratory chain complexes
-
Gibson G, Dienel GA (eds) 3rd edn Springer, Berlin/Heidelberg
-
Papa S, Petruzzella V, Scacco S (2007) Structure, redox-coupled protonmotive activity and pathological disorders of respiratory chain complexes. In: Gibson G, Dienel GA (eds) Handbook of neurochemistry and molecular neurobiology, vol 5, 3rd edn. Springer, Berlin/Heidelberg, pp 94-118
-
(2007)
Handbook of Neurochemistry and Molecular Neurobiology
, vol.5
, pp. 94-118
-
-
Papa, S.1
Petruzzella, V.2
Scacco, S.3
-
69
-
-
76949107596
-
Mitochondrial respiratory dysfunction and mutations in mitochondrial DNA in PINK1 familial parkinsonism
-
Papa S, Sardanelli AM, Capitanio N, Piccoli C (2009a) Mitochondrial respiratory dysfunction and mutations in mitochondrial DNA in PINK1 familial parkinsonism. J Bioenerg Biomembr 41:509-516
-
(2009)
J Bioenerg Biomembr
, vol.41
, pp. 509-516
-
-
Papa, S.1
Sardanelli, A.M.2
Capitanio, N.3
Piccoli, C.4
-
70
-
-
65449188311
-
Pathogenetic mechanisms in hereditary dysfunctions of complex i of the respiratory chain in neurological diseases
-
Papa S, Petruzzella V, Scacco S, Sardanelli AM, Iuso A, Panelli D, Vitale R, Trentadue R, De Rasmo D, Capitanio N, Piccoli C, Papa F, Scivetti M, Bertini E, Rizza T, De Michele G (2009b) Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases. Biochim Biophys Acta 1787:502-517
-
(2009)
Biochim Biophys Acta
, vol.1787
, pp. 502-517
-
-
Papa, S.1
Petruzzella, V.2
Scacco, S.3
Sardanelli, A.M.4
Iuso, A.5
Panelli, D.6
Vitale, R.7
Trentadue, R.8
De Rasmo, D.9
Capitanio, N.10
Piccoli, C.11
Papa Scivetti, F.M.12
Bertini, E.13
Rizza, T.14
De Michele, G.15
-
71
-
-
41749104745
-
Complex i deficiency in Parkinsons disease frontal cortex
-
Parker WD Jr, Parks JK, Swerdlow RH (2008) Complex I deficiency in Parkinsons disease frontal cortex. Brain Res 1189:215-218
-
(2008)
Brain Res
, vol.1189
, pp. 215-218
-
-
Parker Jr., W.D.1
Parks, J.K.2
Swerdlow, R.H.3
-
72
-
-
38149079945
-
Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex i affect ubiquinone reduction kinetics in abacterial model of the enzyme
-
Pätsi J, Kervinen M, Finel M, Hassinen IE (2008) Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in abacterial model of the enzyme. Biochem J 409:129-137
-
(2008)
Biochem J
, vol.409
, pp. 129-137
-
-
Pätsi, J.1
Kervinen, M.2
Finel, M.3
Hassinen, I.E.4
-
73
-
-
0037648357
-
Parkin mutations are frequent in patients with isolated early-onset parkinsonism
-
French Parkinsons Disease Genetics Study Group, European Consortium on Genetic Susceptibility in Parkinsons Disease
-
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A, French Parkinsons Disease Genetics Study Group, European Consortium on Genetic Susceptibility in Parkinsons Disease (2003) Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126:1271-1278
-
(2003)
Brain
, vol.126
, pp. 1271-1278
-
-
Periquet, M.1
Latouche, M.2
Lohmann, E.3
Rawal, N.4
De Michele, G.5
Ricard, S.6
Teive, H.7
Fraix, V.8
Vidailhet, M.9
Nicholl, D.10
Barone, P.11
Wood, N.W.12
Raskin, S.13
Deleuze, J.F.14
Agid, Y.15
Dürr, A.16
Brice, A.17
-
74
-
-
0035283150
-
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa(AQDQ) subunit of complex i abolishes assembly and activity of the complex in apatient with Leigh-like syndrome
-
Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S (2001) A nonsense mutation in the NDUFS4 gene encoding the 18 kDa(AQDQ) subunit of complex I abolishes assembly and activity of the complex in apatient with Leigh-like syndrome. Hum Mol Genet 10:529-535
-
(2001)
Hum Mol Genet
, vol.10
, pp. 529-535
-
-
Petruzzella, V.1
Vergari, R.2
Puzziferri, I.3
Boffoli, D.4
Lamantea, E.5
Zeviani, M.6
Papa, S.7
-
75
-
-
10744226414
-
Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit
-
Petruzzella V, Di Giacinto G, Scacco S, Piemonte F, Torraco A, Carrozzo R, Vergari R, Dionisi-Vici C, Longo D, Tessa A, Papa S, Bertini E (2003) Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit. Neurology 61:1017-1018
-
(2003)
Neurology
, vol.61
, pp. 1017-1018
-
-
Petruzzella, V.1
Di Giacinto, G.2
Scacco, S.3
Piemonte, F.4
Torraco, A.5
Carrozzo, R.6
Vergari, R.7
Dionisi-Vici, C.8
Longo, D.9
Tessa, A.10
Papa, S.11
Bertini, E.12
-
76
-
-
21244452397
-
Mutations in the NDUFS4 gene of mitochondrial complex i alter stability of the splice variants
-
Petruzzella V, Panelli D, Torraco A, Stella A, Papa S (2005) Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. FEBS Lett 579:3770-3776
-
(2005)
FEBS Lett
, vol.579
, pp. 3770-3776
-
-
Petruzzella, V.1
Panelli, D.2
Torraco, A.3
Stella, A.4
Papa, S.5
-
77
-
-
56349137588
-
Mitochondrial respiratory dysfunction in familiar Parkinsonism associated with PINK1 mutation
-
Piccoli C, Sardanelli AM, Scrima R, Ripoli M, Quarato G, DAprile A, Bellomo F, Scacco S, De Michele G, Filla A, Iuso A, Boffoli D, Capitanio N, Papa S (2008a) Mitochondrial respiratory dysfunction in familiar Parkinsonism associated with PINK1 mutation. Neurochem Res 33:2565-2574
-
(2008)
Neurochem Res
, vol.33
, pp. 2565-2574
-
-
Piccoli, C.1
Sardanelli, A.M.2
Scrima Ripoli, R.M.3
Quarato, G.4
Daprile, A.5
Bellomo, F.6
Scacco, S.7
De Michele, G.8
Filla, A.9
Iuso, A.10
Boffoli, D.11
Capitanio, N.12
Papa, S.13
-
78
-
-
51849137779
-
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism
-
Piccoli C, Ripoli M, Quarato G, Scrima R, DAprile A, Boffoli D, Margaglione M, Criscuolo C, De Michele G, Sardanelli AM, Papa S, Capitanio N (2008b) Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. J Med Genet 45:596-602
-
(2008)
J Med Genet
, vol.45
, pp. 596-602
-
-
Piccoli, C.1
Ripoli, M.2
Quarato, G.3
Scrima, R.4
Daprile, A.5
Boffoli, D.6
Margaglione, M.7
Criscuolo, C.8
De Michele, G.9
Sardanelli, A.M.10
Papa, S.11
Capitanio, N.12
-
79
-
-
0029817733
-
NADH-coenzyme Q reductase (complex I) defi-ciency: Heterogeneity in phenotype and biochemical findings
-
Pitkanen S, Feigenbaum A, Laframboise R, Robinson BH (1996) NADH-coenzyme Q reductase (complex I) defi-ciency: heterogeneity in phenotype and biochemical findings. J Inherit Metab Dis 19:675-686
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 675-686
-
-
Pitkanen, S.1
Feigenbaum, A.2
Laframboise, R.3
Robinson, B.H.4
-
80
-
-
35748935851
-
The mitochondrial protease HtrA2 is regulated by Parkinsons diseaseassociated kinase PINK1
-
Plun-Favreau H, Klupsch K, Moisoi N, Gandhi S, Kjaer S, Frith D, Harvey K, Deas E, Harvey RJ, McDonald N, Wood NW, Martins LM, Downward J (2007) The mitochondrial protease HtrA2 is regulated by Parkinsons diseaseassociated kinase PINK1. Nat Cell Biol 9:1243-1252
-
(2007)
Nat Cell Biol
, vol.9
, pp. 1243-1252
-
-
Plun-Favreau, H.1
Klupsch, K.2
Moisoi, N.3
Gandhi, S.4
Kjaer, S.5
Frith, D.6
Harvey, K.7
Deas, E.8
Harvey, R.J.9
McDonald, N.10
Wood, N.W.11
Martins, L.M.12
Downward, J.13
-
81
-
-
34547127902
-
PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1
-
Pridgeon JW, Olzmann JA, Chin LS, Li L (2007) PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. PLoS Biol 5:e172
-
(2007)
PLoS Biol
, vol.5
-
-
Pridgeon, J.W.1
Olzmann, J.A.2
Chin, L.S.3
Li, L.4
-
82
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351
-
(1996)
Ann Neurol
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.H.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
83
-
-
0032490099
-
Human complex i deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect
-
Robinson BH (1998) Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim Biophys Acta 1364:271-286
-
(1998)
Biochim Biophys Acta
, vol.1364
, pp. 271-286
-
-
Robinson, B.H.1
-
84
-
-
38749144436
-
C6ORF66 is an assembly factor of mitochondrial complex i
-
Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O (2008) C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet 82:32-38
-
(2008)
Am J Hum Genet
, vol.82
, pp. 32-38
-
-
Saada, A.1
Edvardson, S.2
Rapoport, M.3
Shaag, A.4
Amry, K.5
Miller, C.6
Lorberboum-Galski, H.7
Elpeleg, O.8
-
85
-
-
33644872938
-
Structure of the hydrophilic domain of respiratory complex i from Thermus thermophilus
-
Sazanov LA, Hinchliffe P (2006) Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus . Science 311:1430-1436
-
(2006)
Science
, vol.311
, pp. 1430-1436
-
-
Sazanov, L.A.1
Hinchliffe, P.2
-
86
-
-
0242414752
-
Pathological mutations of the human NDUFS4 gene of the 18-kDa(AQDQ) subunit of complex i affect the expression of the protein and the assembly and function of the complex
-
Scacco S, Petruzzella V, Budde S, Vergari R, Tamborra R, Panelli D, van den Heuvel LP, Smeitink JA, Papa S (2003) Pathological mutations of the human NDUFS4 gene of the 18-kDa(AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex. J Biol Chem 278:44161-44167
-
(2003)
J Biol Chem
, vol.278
, pp. 44161-44167
-
-
Scacco, S.1
Petruzzella, V.2
Budde, S.3
Vergari, R.4
Tamborra, R.5
Panelli, D.6
Van Den Heuvel, L.P.7
Smeitink, J.A.8
Papa, S.9
-
87
-
-
37049004489
-
Mitochondriain the aetiology and pathogenesis of Parkinsons disease
-
Schapira AH (2008) Mitochondriain the aetiology and pathogenesis of Parkinsons disease. Lancet Neurol 7:97-109
-
(2008)
Lancet Neurol
, vol.7
, pp. 97-109
-
-
Schapira, A.H.1
-
88
-
-
9644268262
-
Molecular genetics of complex I-deficient Chinese hamster cell lines
-
Scheffler IE, Yadava N, Potluri P (2004) Molecular genetics of complex I-deficient Chinese hamster cell lines. Biochim Biophys Acta 1659:160-171
-
(2004)
Biochim Biophys Acta
, vol.1659
, pp. 160-171
-
-
Scheffler, I.E.1
Yadava, N.2
Potluri, P.3
-
89
-
-
0032977683
-
Mutant NDUFV1 subunit of mitochondrial complex i causes leukodystrophy and myoclonic epilepsy
-
Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L (1999) Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21:260-261
-
(1999)
Nat Genet
, vol.21
, pp. 260-261
-
-
Schuelke, M.1
Smeitink, J.2
Mariman, E.3
Loeffen, J.4
Plecko, B.5
Trijbels, F.6
Stöckler-Ipsiroglu, S.7
Van Den Heuvel, L.8
-
90
-
-
27944444154
-
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
-
Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G (2005) Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet 14:3477-3492
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3477-3492
-
-
Silvestri, L.1
Caputo, V.2
Bellacchio, E.3
Atorino, L.4
Dallapiccola, B.5
Valente, E.M.6
Casari, G.7
-
91
-
-
33750220194
-
C-terminal truncation and Parkinsons disease associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1
-
Sim CH, Lio DS, Mok SS, Masters CL, Hill AF, Culvenor JG, Cheng HC (2006) C-terminal truncation and Parkinsons disease associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1. Hum Mol Genet 15:3251-3262
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3251-3262
-
-
Sim, C.H.1
Lio, D.S.2
Mok, S.S.3
Masters, C.L.4
Hill, A.F.5
Culvenor, J.G.6
Cheng, H.C.7
-
93
-
-
34249946941
-
Mono-and double-mutant mouse models of Parkinsons disease display severe mitochondrial damage
-
Stichel CC, Zhu XR, Bader V, Linnartz B, Schmidt S, Lubbert H (2007) Mono-and double-mutant mouse models of Parkinsons disease display severe mitochondrial damage. Hum Mol Genet 16:2377-2393
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2377-2393
-
-
Stichel, C.C.1
Zhu, X.R.2
Bader, V.3
Linnartz, B.4
Schmidt, S.5
Lubbert, H.6
-
94
-
-
53049098744
-
Mutation of C20orf7 disrupts complex i assembly and causes lethal neonatal mitochondrial disease
-
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR (2008) Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 83:468-478
-
(2008)
Am J Hum Genet
, vol.83
, pp. 468-478
-
-
Sugiana, C.1
Pagliarini, D.J.2
McKenzie, M.3
Kirby, D.M.4
Salemi, R.5
Abu-Amero, K.K.6
Dahl, H.H.7
Hutchison, W.M.8
Vascotto, K.A.9
Smith, S.M.10
Newbold, R.F.11
Christodoulou, J.12
Calvo, S.13
Mootha Ryan, V.K.M.T.14
Thorburn, D.R.15
-
95
-
-
0034808577
-
Parkin is linked to the ubiquitin pathway
-
Tanaka K, Suzuki T, Chiba T, Shimura H, Hattori N, Mizuno Y (2001) Parkin is linked to the ubiquitin pathway. J Mol Med 79:482-494
-
(2001)
J Mol Med
, vol.79
, pp. 482-494
-
-
Tanaka, K.1
Suzuki, T.2
Chiba, T.3
Shimura, H.4
Hattori, N.5
Mizuno, Y.6
-
96
-
-
37349004102
-
Parkinsons disease
-
Thomas B, Beal MF (2007) Parkinsons disease. Hum Mol Genet 16(2):183-194
-
(2007)
Hum Mol Genet
, vol.16
, Issue.2
, pp. 183-194
-
-
Thomas, B.1
Beal, M.F.2
-
97
-
-
0033050180
-
Leigh syndrome associated with amutation in the NDUFS7 nuclear encoded subunit of complex i
-
Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA (1999) Leigh syndrome associated with amutation in the NDUFS7 nuclear encoded subunit of complex I. Ann Neurol 45:787-790
-
(1999)
Ann Neurol
, vol.45
, pp. 787-790
-
-
Triepels, R.H.1
Van Den Heuvel, L.P.2
Loeffen, J.L.3
Buskens, C.A.4
Smeets, R.J.5
Rubio Gozalbo, M.E.6
Budde, S.M.7
Mariman, E.C.8
Wijburg, F.A.9
Barth, P.G.10
Trijbels, J.M.11
Smeitink, J.A.12
-
98
-
-
2442668926
-
Hereditary early-onset Parkinsons 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 (2004) Hereditary early-onset Parkinsons disease caused by mutations in PINK1. Science 304:1158-1160
-
(2004)
Science
, vol.304
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
Muqit, M.M.4
Harvey, K.5
Gispert, S.6
Ali, Z.7
Del Turco, D.8
Bentivoglio, A.R.9
Healy, D.G.10
Albanese, A.11
Nussbaum, R.12
González-Maldonado, R.13
Deller, T.14
Salvi, S.15
Cortelli, P.16
Gilks, W.P.17
Latchman, D.S.18
Harvey, R.J.19
Dallapiccola, B.20
Auburger, G.21
Wood, N.W.22
more..
-
99
-
-
17344365132
-
Demonstration of anew pathogenic mutation in human complex i deficiency: A5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
-
van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J (1998) Demonstration of anew pathogenic mutation in human complex I deficiency: a5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 62:262-268
-
(1998)
Am J Hum Genet
, vol.62
, pp. 262-268
-
-
Van Den Heuvel, L.1
Ruitenbeek, W.2
Smeets, R.3
Gelman-Kohan, Z.4
Elpeleg, O.5
Loeffen, J.6
Trijbels, F.7
Mariman, E.8
De Bruijn, D.9
Smeitink, J.10
-
100
-
-
0037085019
-
Control of oxidative phosphorylation by Complex i in rat liver mitochondria: Implications for aging
-
Ventura B, Genova ML, Bovina C, Formiggini G, Lenaz G (2002) Control of oxidative phosphorylation by Complex I in rat liver mitochondria: implications for aging. Biochim Biophys Acta 1553:249-260
-
(2002)
Biochim Biophys Acta
, vol.1553
, pp. 249-260
-
-
Ventura, B.1
Genova, M.L.2
Bovina, C.3
Formiggini, G.4
Lenaz, G.5
-
101
-
-
75949098487
-
PINK1-dependent recruitment of Parkin to mitochondriain mitophagy
-
Vives-Bauza C, Zhou C, Huang Y, Cui M, de Vries RL, Kim J, May J, Tocilescu MA, Liu W, Ko HS, Magrané J, Moore DJ, Dawson VL, Grailhe R, Dawson TM, Li C, Tieu K, Przedborski S (2010) PINK1-dependent recruitment of Parkin to mitochondriain mitophagy. Proc Natl Acad Sci USA 107(1):378-383
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.1
, pp. 378-383
-
-
Vives-Bauza, C.1
Zhou, C.2
Huang, Y.3
Cui, M.4
De Vries, R.L.5
Kim, J.6
May, J.7
Tocilescu, M.A.8
Liu, W.9
Ko, H.S.10
Magrané, J.11
Moore, D.J.12
Dawson, V.L.13
Grailhe, R.14
Dawson, T.M.15
Li, C.16
Tieu, K.17
Przedborski, S.18
-
102
-
-
34848911639
-
Human mitochondrial complex i assembly: Adynamic and versatile process
-
Vogel RO, Smeitink JA, Nijtmans LG (2007) Human mitochondrial complex I assembly: adynamic and versatile process. Biochim Biophys Acta 1767:1215-1227
-
(2007)
Biochim Biophys Acta
, vol.1767
, pp. 1215-1227
-
-
Vogel, R.O.1
Smeitink, J.A.2
Nijtmans, L.G.3
-
103
-
-
0027104114
-
The NADH: Ubiquinone oxidoreductase (complex I) of respiratory chains
-
Walker JE (1992) The NADH: ubiquinone oxidoreductase (complex I) of respiratory chains. Q Rev Biophys 25:232-253
-
(1992)
Q Rev Biophys
, vol.25
, pp. 232-253
-
-
Walker, J.E.1
-
104
-
-
0037418550
-
The proton-translocating NADH-quinone oxidoreductase in the respiratory chain: The secret unlocked
-
Yagi T, Matsuno-Yagi A (2003) The proton-translocating NADH-quinone oxidoreductase in the respiratory chain: the secret unlocked. Biochemistry 42:2266-2274
-
(2003)
Biochemistry
, vol.42
, pp. 2266-2274
-
-
Yagi, T.1
Matsuno-Yagi, A.2
-
105
-
-
44349195101
-
Pink1 regulates mitochondrial dynamics through interaction with the fission/fusion machinery
-
Yang Y, Ouyang Y, Yang L, Beal MF, McQuibban A, Vogel H, Lu B (2008) Pink1 regulates mitochondrial dynamics through interaction with the fission/fusion machinery. Proc Natl Acad Sci USA 10(5):7070-7073
-
(2008)
Proc Natl Acad Sci USA
, vol.10
, Issue.5
, pp. 7070-7073
-
-
Yang, Y.1
Ouyang, Y.2
Yang, L.3
Beal, M.F.4
McQuibban, A.5
Vogel, H.6
Lu, B.7
-
106
-
-
33745597470
-
Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinsons disease patients
-
Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St George-Hyslop P, Klein C, Lang AE (2006) Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinsons disease patients. Mov Disord 21:875-879
-
(2006)
Mov Disord
, vol.21
, pp. 875-879
-
-
Zadikoff, C.1
Rogaeva, E.2
Djarmati, A.3
Sato, C.4
Salehi-Rad, S.5
St George-Hyslop, P.6
Klein, C.7
Lang, A.E.8
-
107
-
-
50149121528
-
The kinase domain of mitochondrial PINK1 faces the cytoplasm
-
Zhou C, Huang Y, Shao Y, May J, Prou D, Perier C, Dauer W, Schon EA, Przedborski S (2008) The kinase domain of mitochondrial PINK1 faces the cytoplasm. Proc Natl Acad Sci USA 105:2022-2027
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 2022-2027
-
-
Zhou, C.1
Huang, Y.2
Shao, Y.3
May, J.4
Prou, D.5
Perier, C.6
Dauer, W.7
Schon, E.A.8
Przedborski, S.9
|