-
1
-
-
84860840558
-
Mitochondrial diseases
-
A.H.V. Schapira Mitochondrial diseases Lancet 379 2012 1825 1834
-
(2012)
Lancet
, vol.379
, pp. 1825-1834
-
-
Schapira, A.H.V.1
-
3
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
S. DiMauro, and E. Schon Mitochondrial respiratory-chain diseases N. Engl. J. Med. 348 2003 2656
-
(2003)
N. Engl. J. Med.
, vol.348
, pp. 2656
-
-
Dimauro, S.1
Schon, E.2
-
4
-
-
49749141079
-
Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders
-
D.M. Kirby, and D.R. Thorburn Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders Twin Res. Hum. Genet. 11 2008 395 411
-
(2008)
Twin Res. Hum. Genet.
, vol.11
, pp. 395-411
-
-
Kirby, D.M.1
Thorburn, D.R.2
-
5
-
-
84858376953
-
Mitochondria: In sickness and in health
-
J. Nunnari, and A. Suomalainen Mitochondria: in sickness and in health Cell 148 2012 1145 1159
-
(2012)
Cell
, vol.148
, pp. 1145-1159
-
-
Nunnari, J.1
Suomalainen, A.2
-
6
-
-
84857918871
-
Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases
-
S. Papa, D.D. Rasmo, Z. Technikova-Dobrova, D. Panelli, A. Signorile, S. Scacco, V. Petruzzella, F. Papa, G. Palmisano, A. Gnoni, L. Micelli, and A.M. Sardanelli Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases FEBS Lett. 586 2012 568 577
-
(2012)
FEBS Lett.
, vol.586
, pp. 568-577
-
-
Papa, S.1
Rasmo, D.D.2
Technikova-Dobrova, Z.3
Panelli, D.4
Signorile, A.5
Scacco, S.6
Petruzzella, V.7
Papa, F.8
Palmisano, G.9
Gnoni, A.10
Micelli, L.11
Sardanelli, A.M.12
-
9
-
-
59649115254
-
Glia - More than just brain glue
-
N. Allen, and B. Barres Glia - more than just brain glue Nature 457 2009 675 677
-
(2009)
Nature
, vol.457
, pp. 675-677
-
-
Allen, N.1
Barres, B.2
-
10
-
-
84868369392
-
The metabolism of neurons and astrocytes through mathematical models
-
E. Somersalo, Y. Cheng, and D. Calvetti The metabolism of neurons and astrocytes through mathematical models Ann. Biomed. Eng. 40 2012 2328 2344
-
(2012)
Ann. Biomed. Eng.
, vol.40
, pp. 2328-2344
-
-
Somersalo, E.1
Cheng, Y.2
Calvetti, D.3
-
11
-
-
82455199255
-
Astrocytic energy metabolism and glutamate formation-relevance for 13C-NMR spectroscopy and importance of cytosolic/mitochondrial trafficking
-
L. Hertz Astrocytic energy metabolism and glutamate formation-relevance for 13C-NMR spectroscopy and importance of cytosolic/mitochondrial trafficking Magn. Reson. Imaging 29 2011 1319 1329
-
(2011)
Magn. Reson. Imaging
, vol.29
, pp. 1319-1329
-
-
Hertz, L.1
-
12
-
-
33846423878
-
Energy metabolism in astrocytes: High rate of oxidative metabolism and spatiotemporal dependence on glycolysis/glycogenolysis
-
L. Hertz, L. Peng, and G.A. Dienel Energy metabolism in astrocytes: high rate of oxidative metabolism and spatiotemporal dependence on glycolysis/glycogenolysis J. Cereb. Blood Flow Metab. 27 2007 219 249
-
(2007)
J. Cereb. Blood Flow Metab.
, vol.27
, pp. 219-249
-
-
Hertz, L.1
Peng, L.2
Dienel, G.A.3
-
13
-
-
84882479655
-
Astrocytic energetics during excitatory neurotransmission: What are contributions of glutamate oxidation and glycolysis?
-
G.A. Dienel Astrocytic energetics during excitatory neurotransmission: What are contributions of glutamate oxidation and glycolysis? Neurochem. Int. 63 2013 244 258
-
(2013)
Neurochem. Int.
, vol.63
, pp. 244-258
-
-
Dienel, G.A.1
-
14
-
-
41449089840
-
Mice with mitochondrial complex i deficiency develop a fatal encephalomyopathy
-
S.E. Kruse, W.C. Watt, D.J. Marcinek, R.P. Kapur, K.A. Schenkman, and R.D. Palmiter Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy Cell Metab. 7 2008 312 320
-
(2008)
Cell Metab.
, vol.7
, pp. 312-320
-
-
Kruse, S.E.1
Watt, W.C.2
Marcinek, D.J.3
Kapur, R.P.4
Schenkman, K.A.5
Palmiter, R.D.6
-
15
-
-
84862001736
-
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene
-
D.W. Leong, J.C. Komen, C.A. Hewitt, E. Arnaud, M. McKenzie, B. Phipson, M. Bahlo, A. Laskowski, S.A. Kinkel, G.M. Davey, W.R. Heath, A.K. Voss, R.P. Zahedi, J.J. Pitt, R. Chrast, A. Sickmann, M.T. Ryan, G.K. Smyth, D.R. Thorburn, and H.S. Scott Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene J. Biol. Chem. 287 2012 20652 20663
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 20652-20663
-
-
Leong, D.W.1
Komen, J.C.2
Hewitt, C.A.3
Arnaud, E.4
McKenzie, M.5
Phipson, B.6
Bahlo, M.7
Laskowski, A.8
Kinkel, S.A.9
Davey, G.M.10
Heath, W.R.11
Voss, A.K.12
Zahedi, R.P.13
Pitt, J.J.14
Chrast, R.15
Sickmann, A.16
Ryan, M.T.17
Smyth, G.K.18
Thorburn, D.R.19
Scott, H.S.20
more..
-
16
-
-
84863537072
-
Fatal breathing dysfunction in a mouse model of Leigh syndrome
-
A. Quintana, S. Zanella, H. Koch, S.E. Kruse, D. Lee, J.M. Ramirez, and R.D. Palmiter Fatal breathing dysfunction in a mouse model of Leigh syndrome J. Clin. Invest. 122 2012 2359
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 2359
-
-
Quintana, A.1
Zanella, S.2
Koch, H.3
Kruse, S.E.4
Lee, D.5
Ramirez, J.M.6
Palmiter, R.D.7
-
17
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
S. Rahman, R.B. Blok, H.H. Dahl, D.M. Danks, D.M. Kirby, C.W. Chow, J. Christodoulou, and D.R. Thorburn Leigh syndrome: clinical features and biochemical and DNA abnormalities Ann. Neurol. 39 1996 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
-
18
-
-
84870623870
-
Mouse mtDNA mutant model of Leber hereditary optic neuropathy
-
C.S. Lin, M.S. Sharpley, W. Fan, K.G. Waymire, A.A. Sadun, V. Carelli, F.N. Ross-Cisneros, P. Baciu, E. Sung, M.J. McManus, B.X. Pan, D.W. Gil, G.R. MacGregor, and D.C. Wallace Mouse mtDNA mutant model of Leber hereditary optic neuropathy Proc. Natl. Acad. Sci. 109 2012 20065 20070
-
(2012)
Proc. Natl. Acad. Sci.
, vol.109
, pp. 20065-20070
-
-
Lin, C.S.1
Sharpley, M.S.2
Fan, W.3
Waymire, K.G.4
Sadun, A.A.5
Carelli, V.6
Ross-Cisneros, F.N.7
Baciu, P.8
Sung, E.9
McManus, M.J.10
Pan, B.X.11
Gil, D.W.12
Macgregor, G.R.13
Wallace, D.C.14
-
19
-
-
84863315789
-
Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in mice
-
H. Yu, S.S. Ozdemir, R.D. Koilkonda, T.-H. Chou, V. Porciatti, V. Chiodo, S.L. Boye, W.W. Hauswirth, A.S. Lewin, and J. Guy Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in mice Mol. Vis. 18 2012 1668 1683
-
(2012)
Mol. Vis.
, vol.18
, pp. 1668-1683
-
-
Yu, H.1
Ozdemir, S.S.2
Koilkonda, R.D.3
Chou, T.-H.4
Porciatti, V.5
Chiodo, V.6
Boye, S.L.7
Hauswirth, W.W.8
Lewin, A.S.9
Guy, J.10
-
20
-
-
0034658226
-
Cloning of neuronal mtDNA variants in cultured cells by synaptosome fusion with mtDNA-less cells
-
I.A. Trounce, J. Schmiedel, H.C. Yen, S. Hosseini, M.D. Brown, J.J. Olson, and D.C. Wallace Cloning of neuronal mtDNA variants in cultured cells by synaptosome fusion with mtDNA-less cells Nucleic Acids Res. 28 2000 2164 2170
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 2164-2170
-
-
Trounce, I.A.1
Schmiedel, J.2
Yen, H.C.3
Hosseini, S.4
Brown, M.D.5
Olson, J.J.6
Wallace, D.C.7
-
21
-
-
33845997794
-
Cybrid models of mtDNA disease and transmission, from cells to mice
-
I.A. Trounce, and C.A. Pinkert Cybrid models of mtDNA disease and transmission, from cells to mice Curr. Top. Dev. Biol. 77 2007 157 183
-
(2007)
Curr. Top. Dev. Biol.
, vol.77
, pp. 157-183
-
-
Trounce, I.A.1
Pinkert, C.A.2
-
22
-
-
33747195353
-
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
-
K. Takahashi, and S. Yamanaka Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors Cell 126 2006 663 676
-
(2006)
Cell
, vol.126
, pp. 663-676
-
-
Takahashi, K.1
Yamanaka, S.2
-
23
-
-
0032079517
-
Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1
-
J. Kong, and Z. Xu Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1 J. Neurosci. 18 1998 3241 3250
-
(1998)
J. Neurosci.
, vol.18
, pp. 3241-3250
-
-
Kong, J.1
Xu, Z.2
-
24
-
-
0036830072
-
Mitochondrial electron transport chain complex dysfunction in a transgenic mouse model for amyotrophic lateral sclerosis
-
C. Jung, C.M.J. Higgins, and Z. Xu Mitochondrial electron transport chain complex dysfunction in a transgenic mouse model for amyotrophic lateral sclerosis J. Neurochem. 83 2002 535 545
-
(2002)
J. Neurochem.
, vol.83
, pp. 535-545
-
-
Jung, C.1
Higgins, C.M.J.2
Xu, Z.3
-
25
-
-
77955961922
-
Misfolded mutant SOD1 directly inhibits VDAC1 conductance in a mouse model of inherited ALS
-
A. Israelson, N. Arbel, S. Da Cruz, H. Ilieva, K. Yamanaka, V. Shoshan-Barmatz, and D.W. Cleveland Misfolded Mutant SOD1 Directly Inhibits VDAC1 Conductance in a Mouse Model of Inherited ALS Neuron 67 2010 575 587
-
(2010)
Neuron
, vol.67
, pp. 575-587
-
-
Israelson, A.1
Arbel, N.2
Da Cruz, S.3
Ilieva, H.4
Yamanaka, K.5
Shoshan-Barmatz, V.6
Cleveland, D.W.7
-
26
-
-
79960276613
-
Decreased glutathione accelerates neurological deficit and mitochondrial pathology in familial ALS-linked hSOD1(G93A) mice model
-
M.R. Vargas, D.A. Johnson, and J.A. Johnson Decreased glutathione accelerates neurological deficit and mitochondrial pathology in familial ALS-linked hSOD1(G93A) mice model Neurobiol. Dis. 43 2011 543 551
-
(2011)
Neurobiol. Dis.
, vol.43
, pp. 543-551
-
-
Vargas, M.R.1
Johnson, D.A.2
Johnson, J.A.3
-
27
-
-
0034192352
-
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
-
M. Cossée, H. Puccio, A. Gansmuller, H. Koutnikova, A. Dierich, M. LeMeur, K. Fischbeck, P. Dollé, and M. Koenig Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation Hum. Mol. Genet. 9 2000 1219 1226
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1219-1226
-
-
Cossée, M.1
Puccio, H.2
Gansmuller, A.3
Koutnikova, H.4
Dierich, A.5
Lemeur, M.6
Fischbeck, K.7
Dollé, P.8
Koenig, M.9
-
28
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
H. Puccio, D. Simon, M. Cossée, P. Criqui-Filipe, F. Tiziano, J. Melki, C. Hindelang, R. Matyas, P. Rustin, and M. Koenig Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits Nat. Genet. 27 2001 181 186
-
(2001)
Nat. Genet.
, vol.27
, pp. 181-186
-
-
Puccio, H.1
Simon, D.2
Cossée, M.3
Criqui-Filipe, P.4
Tiziano, F.5
Melki, J.6
Hindelang, C.7
Matyas, R.8
Rustin, P.9
Koenig, M.10
-
29
-
-
18244408334
-
Frataxin knockin mouse
-
C.J. Miranda, M.M. Santos, K. Ohshima, J. Smith, L. Li, M. Bunting, M. Cossée, M. Koenig, J. Sequeiros, J. Kaplan, and M. Pandolfo Frataxin knockin mouse FEBS Lett. 512 2002 291 297
-
(2002)
FEBS Lett.
, vol.512
, pp. 291-297
-
-
Miranda, C.J.1
Santos, M.M.2
Ohshima, K.3
Smith, J.4
Li, L.5
Bunting, M.6
Cossée, M.7
Koenig, M.8
Sequeiros, J.9
Kaplan, J.10
Pandolfo, M.11
-
30
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
S. Al-Mahdawi, R.M. Pinto, P. Ruddle, C. Carroll, Z. Webster, and M. Pook GAA repeat instability in Friedreich ataxia YAC transgenic mice Genomics 84 2004 301 310
-
(2004)
Genomics
, vol.84
, pp. 301-310
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ruddle, P.3
Carroll, C.4
Webster, Z.5
Pook, M.6
-
31
-
-
33845652267
-
The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
-
R.M. Clark, I. De Biase, A.P. Malykhina, S. Al-Mahdawi, M. Pook, and S.I. Bidichandani The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model Hum. Genet. 120 2007 633 640
-
(2007)
Hum. Genet.
, vol.120
, pp. 633-640
-
-
Clark, R.M.1
De Biase, I.2
Malykhina, A.P.3
Al-Mahdawi, S.4
Pook, M.5
Bidichandani, S.I.6
-
32
-
-
84877830055
-
Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia
-
A. Hick, M. Wattenhofer-Donzé, S. Chintawar, P. Tropel, J.P. Simard, N. Vaucamps, D. Gall, L. Lambot, C. André, L. Reutenauer, M. Rai, M. Teletin, N. Messaddeq, S.N. Schiffmann, S. Viville, C.E. Pearson, M. Pandolfo, and H. Puccio Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia Dis. Model. Mech. 6 2012 608 621
-
(2012)
Dis. Model. Mech.
, vol.6
, pp. 608-621
-
-
Hick, A.1
Wattenhofer-Donzé, M.2
Chintawar, S.3
Tropel, P.4
Simard, J.P.5
Vaucamps, N.6
Gall, D.7
Lambot, L.8
André, C.9
Reutenauer, L.10
Rai, M.11
Teletin, M.12
Messaddeq, N.13
Schiffmann, S.N.14
Viville, S.15
Pearson, C.E.16
Pandolfo, M.17
Puccio, H.18
-
33
-
-
0031008228
-
The ATP synthase-A splendid molecular machine
-
P. Boyer The ATP synthase-a splendid molecular machine Annu. Rev. Biochem. 66 1997 717
-
(1997)
Annu. Rev. Biochem.
, vol.66
, pp. 717
-
-
Boyer, P.1
-
34
-
-
0142150051
-
Mitochondrial formation of reactive oxygen species
-
J.F. Turrens Mitochondrial formation of reactive oxygen species J. Physiol. Lond. 552 2003 335 344
-
(2003)
J. Physiol. Lond.
, vol.552
, pp. 335-344
-
-
Turrens, J.F.1
-
35
-
-
34548313688
-
OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L
-
Z. Song, H. Chen, M. Fiket, C. Alexander, and D.C. Chan OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L J. Cell Biol. 178 2007 749 755
-
(2007)
J. Cell Biol.
, vol.178
, pp. 749-755
-
-
Song, Z.1
Chen, H.2
Fiket, M.3
Alexander, C.4
Chan, D.C.5
-
36
-
-
2542495840
-
Calcium and mitochondria
-
T.E. Gunter, D.I. Yule, K.K. Gunter, R.A. Eliseev, and J.D. Salter Calcium and mitochondria FEBS Lett. 567 2004 96 102
-
(2004)
FEBS Lett.
, vol.567
, pp. 96-102
-
-
Gunter, T.E.1
Yule, D.I.2
Gunter, K.K.3
Eliseev, R.A.4
Salter, J.D.5
-
38
-
-
77953811579
-
The regulation of OXPHOS by extramitochondrial calcium
-
F. Gellerich, Z. Gizatullina, S. Trumbeckaite, H. Nguyen, T. Pallas, O. Arandarcikaite, S. Vielhaber, E. Seppet, and F. Striggow The regulation of OXPHOS by extramitochondrial calcium Biochim. Biophys. Acta Bioenerg. 1797 2010 1018 1027
-
(2010)
Biochim. Biophys. Acta Bioenerg.
, vol.1797
, pp. 1018-1027
-
-
Gellerich, F.1
Gizatullina, Z.2
Trumbeckaite, S.3
Nguyen, H.4
Pallas, T.5
Arandarcikaite, O.6
Vielhaber, S.7
Seppet, E.8
Striggow, F.9
-
39
-
-
84865771586
-
NDUFA4 Is a subunit of clement IV of the Mammalian Electron Transport Chain
-
E. Balsa, R. Marco, E. Perales-Clemente, R. Szklarczyk, E. Calvo, M.O. Landázuri, and J.A. Enriquez NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain Cell Metab. 16 2012 378 386
-
(2012)
Cell Metab.
, vol.16
, pp. 378-386
-
-
Balsa, E.1
Marco, R.2
Perales-Clemente, E.3
Szklarczyk, R.4
Calvo, E.5
Landázuri, M.O.6
Enriquez, J.A.7
-
40
-
-
77952979824
-
The architecture of respiratory complex i
-
R.G. Efremov, R. Baradaran, and L.A. Sazanov The architecture of respiratory complex I Nature 465 2010 441 445
-
(2010)
Nature
, vol.465
, pp. 441-445
-
-
Efremov, R.G.1
Baradaran, R.2
Sazanov, L.A.3
-
41
-
-
33644872938
-
Structure of the hydrophilic domain of respiratory complex i from Thermus thermophilus
-
L. Sazanov, and P. Hinchliffe Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus Science 311 2006 1430
-
(2006)
Science
, vol.311
, pp. 1430
-
-
Sazanov, L.1
Hinchliffe, P.2
-
42
-
-
84863741781
-
Assembly factors of human mitochondrial respiratory chain complexes: Physiology and pathophysiology
-
D. Ghezzi, and M. Zeviani Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology Adv. Exp. Med. Biol. 748 2012 65 106
-
(2012)
Adv. Exp. Med. Biol.
, vol.748
, pp. 65-106
-
-
Ghezzi, D.1
Zeviani, M.2
-
43
-
-
54449089025
-
Mitochondrial complex i inhibition is not required for dopaminergic neuron death induced by rotenone, MPP +, or paraquat
-
W.-S. Choi, S.E. Kruse, R.D. Palmiter, and Z. Xia Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP +, or paraquat Proc. Natl. Acad. Sci. 105 2008 15136 15141
-
(2008)
Proc. Natl. Acad. Sci.
, vol.105
, pp. 15136-15141
-
-
Choi, W.-S.1
Kruse, S.E.2
Palmiter, R.D.3
Xia, Z.4
-
44
-
-
77954638436
-
Complex i deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome
-
A. Quintana, S.E. Kruse, R.P. Kapur, E. Sanz, and R.D. Palmiter Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome Proc. Natl. Acad. Sci. 107 2010 10996 11001
-
(2010)
Proc. Natl. Acad. Sci.
, vol.107
, pp. 10996-11001
-
-
Quintana, A.1
Kruse, S.E.2
Kapur, R.P.3
Sanz, E.4
Palmiter, R.D.5
-
45
-
-
79952368703
-
Loss of mitochondrial complex i activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson's disease model
-
W. Choi, R. Palmiter, and Z. Xia Loss of mitochondrial complex I activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson's disease model J. Cell Biol. 192 2011 873
-
(2011)
J. Cell Biol.
, vol.192
, pp. 873
-
-
Choi, W.1
Palmiter, R.2
Xia, Z.3
-
46
-
-
34548379004
-
Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology
-
V. El Ghouzzi, Z. Csaba, P. Olivier, B. Lelouvier, L. Schwendimann, P. Dournaud, C. Verney, P. Rustin, and P. Gressens Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology J. Neuropathol. Exp. Neurol. 66 2007 838 847
-
(2007)
J. Neuropathol. Exp. Neurol.
, vol.66
, pp. 838-847
-
-
El Ghouzzi, V.1
Csaba, Z.2
Olivier, P.3
Lelouvier, B.4
Schwendimann, L.5
Dournaud, P.6
Verney, C.7
Rustin, P.8
Gressens, P.9
-
47
-
-
10644244369
-
AIF deficiency compromises oxidative phosphorylation
-
N. Vahsen, C. Candé, J.-J. Brière, P. Bénit, N. Joza, N. Larochette, P.G. Mastroberardino, M.O. Pequignot, N. Casares, V. Lazar, O. Feraud, N. Debili, S. Wissing, S. Engelhardt, F. Madeo, M. Piacentini, J.M. Penninger, H. Schägger, P. Rustin, and G. Kroemer AIF deficiency compromises oxidative phosphorylation EMBO J. 23 2004 4679 4689
-
(2004)
EMBO J.
, vol.23
, pp. 4679-4689
-
-
Vahsen, N.1
Candé, C.2
Brière, J.-J.3
Bénit, P.4
Joza, N.5
Larochette, N.6
Mastroberardino, P.G.7
Pequignot, M.O.8
Casares, N.9
Lazar, V.10
Feraud, O.11
Debili, N.12
Wissing, S.13
Engelhardt, S.14
Madeo, F.15
Piacentini, M.16
Penninger, J.M.17
Schägger, H.18
Rustin, P.19
Kroemer, G.20
more..
-
48
-
-
33745628783
-
Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal
-
D. Brown, B.D. Yu, N. Joza, P. Bénit, J. Meneses, M. Firpo, P. Rustin, J.M. Penninger, and G.R. Martin Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal Proc. Natl. Acad. Sci. U. S. A. 103 2006 9918 9923
-
(2006)
Proc. Natl. Acad. Sci. U. S. A.
, vol.103
, pp. 9918-9923
-
-
Brown, D.1
Yu, B.D.2
Joza, N.3
Bénit, P.4
Meneses, J.5
Firpo, M.6
Rustin, P.7
Penninger, J.M.8
Martin, G.R.9
-
49
-
-
77955872123
-
Assembly factors of human mitochondrial complex i and their defects in disease
-
M. McKenzie, and M. Ryan Assembly factors of human mitochondrial complex I and their defects in disease IUBMB Life 62 2010 497 502
-
(2010)
IUBMB Life
, vol.62
, pp. 497-502
-
-
McKenzie, M.1
Ryan, M.2
-
50
-
-
82255162594
-
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing
-
I. Berger, Z. Ben-Neriah, T. Dor-Wolman, A. Shaag, A. Saada, S. Zenvirt, A. Raas-Rothschild, M. Nadjari, K.H. Kaestner, and O. Elpeleg Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing Mol. Genet. Metab. 104 2011 517 520
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 517-520
-
-
Berger, I.1
Ben-Neriah, Z.2
Dor-Wolman, T.3
Shaag, A.4
Saada, A.5
Zenvirt, S.6
Raas-Rothschild, A.7
Nadjari, M.8
Kaestner, K.H.9
Elpeleg, O.10
-
51
-
-
77950326171
-
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
-
D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti, M. Mora, P. D'Adamo, F. Novara, O. Zuffardi, G. Uziel, and M. Zeviani Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor Am. J. Hum. Genet. 86 2010 639 649
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 639-649
-
-
Ghezzi, D.1
Sevrioukova, I.2
Invernizzi, F.3
Lamperti, C.4
Mora, M.5
D'Adamo, P.6
Novara, F.7
Zuffardi, O.8
Uziel, G.9
Zeviani, M.10
-
52
-
-
34447636774
-
Novel mutations of ND genes in complex i deficiency associated with mitochondrial encephalopathy
-
E. Malfatti, M. Bugiani, F. Invernizzi, C.F.-M. de Souza, L. Farina, F. Carrara, E. Lamantea, C. Antozzi, P. Confalonieri, M.T. Sanseverino, R. Giugliani, G. Uziel, and M. Zeviani Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy Brain 130 2007 1894 1904
-
(2007)
Brain
, vol.130
, pp. 1894-1904
-
-
Malfatti, E.1
Bugiani, M.2
Invernizzi, F.3
De Souza, C.F.-M.4
Farina, L.5
Carrara, F.6
Lamantea, E.7
Antozzi, C.8
Confalonieri, P.9
Sanseverino, M.T.10
Giugliani, R.11
Uziel, G.12
Zeviani, M.13
-
53
-
-
67649994021
-
Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation
-
D.M. Kirby, K.J. Rennie, T.K. Smulders-Srinivasan, R. Acin-Perez, M. Whittington, J.-A. Enriquez, A.J. Trevelyan, D.M. Turnbull, and R.N. Lightowlers Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation Cell Prolif. 42 2009 413 424
-
(2009)
Cell Prolif.
, vol.42
, pp. 413-424
-
-
Kirby, D.M.1
Rennie, K.J.2
Smulders-Srinivasan, T.K.3
Acin-Perez, R.4
Whittington, M.5
Enriquez, J.-A.6
Trevelyan, A.J.7
Turnbull, D.M.8
Lightowlers, R.N.9
-
54
-
-
0043269302
-
Function and structure of complex II of the respiratory chain
-
G. Cecchini Function and structure of complex II of the respiratory chain Annu. Rev. Biochem. 72 2003 77 109
-
(2003)
Annu. Rev. Biochem.
, vol.72
, pp. 77-109
-
-
Cecchini, G.1
-
55
-
-
77952885778
-
Succinate dehydrogenase-Assembly, regulation and role in human disease
-
J. Rutter, D.R. Winge, and J.D. Schiffman Succinate dehydrogenase- Assembly, regulation and role in human disease Mitochondrion 10 2010 393 401
-
(2010)
Mitochondrion
, vol.10
, pp. 393-401
-
-
Rutter, J.1
Winge, D.R.2
Schiffman, J.D.3
-
56
-
-
78650018619
-
Mitochondrial reactive oxygen species generation by the SDHC V69E mutation causes low birth weight and neonatal growth retardation
-
T. Ishii, M. Miyazawa, A. Onodera, K. Yasuda, N. Kawabe, M. Kirinashizawa, S. Yoshimura, N. Maruyama, P.S. Hartman, and N. Ishii Mitochondrial reactive oxygen species generation by the SDHC V69E mutation causes low birth weight and neonatal growth retardation Mitochondrion 11 2011 155 165
-
(2011)
Mitochondrion
, vol.11
, pp. 155-165
-
-
Ishii, T.1
Miyazawa, M.2
Onodera, A.3
Yasuda, K.4
Kawabe, N.5
Kirinashizawa, M.6
Yoshimura, S.7
Maruyama, N.8
Hartman, P.S.9
Ishii, N.10
-
57
-
-
56349124605
-
Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects, Biochimica et Biophysica Acta (BBA)-Molecular
-
E. Fernández-Vizarra, V. Tiranti, and M. Zeviani Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects, Biochimica Et Biophysica Acta (BBA)-Molecular Cell Res. 1793 2009 200 211
-
(2009)
Cell Res.
, vol.1793
, pp. 200-211
-
-
Fernández-Vizarra, E.1
Tiranti, V.2
Zeviani, M.3
-
58
-
-
84873995203
-
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation
-
N. Miyake, S. Yano, C. Sakai, H. Hatakeyama, Y. Matsushima, M. Shiina, Y. Watanabe, J. Bartley, J.E. Abdenur, R.Y. Wang, R. Chang, Y. Tsurusaki, H. Doi, M. Nakashima, H. Saitsu, K. Ogata, Y.-I. Goto, and N. Matsumoto Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation Hum. Mutat. 34 2013 446 452
-
(2013)
Hum. Mutat.
, vol.34
, pp. 446-452
-
-
Miyake, N.1
Yano, S.2
Sakai, C.3
Hatakeyama, H.4
Matsushima, Y.5
Shiina, M.6
Watanabe, Y.7
Bartley, J.8
Abdenur, J.E.9
Wang, R.Y.10
Chang, R.11
Tsurusaki, Y.12
Doi, H.13
Nakashima, M.14
Saitsu, H.15
Ogata, K.16
Goto, Y.-I.17
Matsumoto, N.18
-
59
-
-
84881660387
-
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia
-
P. Gaignard, M. Menezes, M. Schiff, A. Bayot, M. Rak, H. Ogier de Baulny, C.-H. Su, M. Gilleron, A. Lombès, H. Abida, A. Tzagoloff, L. Riley, S.T. Cooper, K. Mina, P. Sivadorai, M.R. Davis, R.J.N. Allcock, N. Kresoje, N.G. Laing, and D.R. Thorburn et al. Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia Am. J. Hum. Genet. 93 2013 384 389
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 384-389
-
-
Gaignard, P.1
Menezes, M.2
Schiff, M.3
Bayot, A.4
Rak, M.5
Ogier De Baulny, H.6
Su, C.-H.7
Gilleron, M.8
Lombès, A.9
Abida, H.10
Tzagoloff, A.11
Riley, L.12
Cooper, S.T.13
Mina, K.14
Sivadorai, P.15
Davis, M.R.16
Allcock, R.J.N.17
Kresoje, N.18
Laing, N.G.19
Thorburn, D.R.20
more..
-
60
-
-
84869003478
-
A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions
-
F. Diaz, S. Garcia, K.R. Padgett, and C.T. Moraes A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions Hum. Mol. Genet. 21 2012 5066 5077
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 5066-5077
-
-
Diaz, F.1
Garcia, S.2
Padgett, K.R.3
Moraes, C.T.4
-
61
-
-
0142154270
-
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
-
H. Antonicka, S.C. Leary, G.-H. Guercin, J.N. Agar, R. Horvath, N.G. Kennaway, C.O. Harding, M. Jaksch, and E.A. Shoubridge Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency Hum. Mol. Genet. 12 2003 2693 2702
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2693-2702
-
-
Antonicka, H.1
Leary, S.C.2
Guercin, G.-H.3
Agar, J.N.4
Horvath, R.5
Kennaway, N.G.6
Harding, C.O.7
Jaksch, M.8
Shoubridge, E.A.9
-
62
-
-
0037440750
-
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
-
A. Agostino, F. Invernizzi, C. Tiveron, G. Fagiolari, A. Prelle, E. Lamantea, A. Giavazzi, G. Battaglia, L. Tatangelo, V. Tiranti, and M. Zeviani Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice Hum. Mol. Genet. 12 2003 399 413
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 399-413
-
-
Agostino, A.1
Invernizzi, F.2
Tiveron, C.3
Fagiolari, G.4
Prelle, A.5
Lamantea, E.6
Giavazzi, A.7
Battaglia, G.8
Tatangelo, L.9
Tiranti, V.10
Zeviani, M.11
-
63
-
-
33847304164
-
Increased longevity and refractoriness to Ca(2 +)-dependent neurodegeneration in Surf1 knockout mice
-
C. Dell'agnello, S. Leo, A. Agostino, G. Szabadkai, C. Tiveron, A. Zulian, A. Prelle, P. Roubertoux, R. Rizzuto, and M. Zeviani Increased longevity and refractoriness to Ca(2 +)-dependent neurodegeneration in Surf1 knockout mice Hum. Mol. Genet. 16 2007 431 444
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 431-444
-
-
Dell'Agnello, C.1
Leo, S.2
Agostino, A.3
Szabadkai, G.4
Tiveron, C.5
Zulian, A.6
Prelle, A.7
Roubertoux, P.8
Rizzuto, R.9
Zeviani, M.10
-
64
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
R.W. Taylor, and D.M. Turnbull Mitochondrial DNA mutations in human disease Nat. Rev. Genet. 6 2005 389 402
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
65
-
-
0034951975
-
Diseases caused by nuclear genes affecting mtDNA stability
-
A. Suomalainen, and J. Kaukonen Diseases caused by nuclear genes affecting mtDNA stability Am. J. Med. Genet. 106 2001 53 61
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 53-61
-
-
Suomalainen, A.1
Kaukonen, J.2
-
66
-
-
68149099553
-
The pathophysiology of mitochondrial disease as modeled in the mouse
-
D.C. Wallace, and W. Fan The pathophysiology of mitochondrial disease as modeled in the mouse Genes Dev. 23 2009 1714 1736
-
(2009)
Genes Dev.
, vol.23
, pp. 1714-1736
-
-
Wallace, D.C.1
Fan, W.2
-
67
-
-
48249149059
-
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
-
H.O. Akman, B. Dorado, L.C. López, A. García-Cazorla, M.R. Vilà, L.M. Tanabe, W.T. Dauer, E. Bonilla, K. Tanji, and M. Hirano Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance Hum. Mol. Genet. 17 2008 2433 2440
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2433-2440
-
-
Akman, H.O.1
Dorado, B.2
López, L.C.3
García-Cazorla, A.4
Vilà, M.R.5
Tanabe, L.M.6
Dauer, W.T.7
Bonilla, E.8
Tanji, K.9
Hirano, M.10
-
68
-
-
58949094557
-
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
-
L.C. López, H.O. Akman, A. García-Cazorla, B. Dorado, R. Martí, I. Nishino, S. Tadesse, G. Pizzorno, D. Shungu, E. Bonilla, K. Tanji, and M. Hirano Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice Hum. Mol. Genet. 18 2009 714 722
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 714-722
-
-
López, L.C.1
Akman, H.O.2
García-Cazorla, A.3
Dorado, B.4
Martí, R.5
Nishino, I.6
Tadesse, S.7
Pizzorno, G.8
Shungu, D.9
Bonilla, E.10
Tanji, K.11
Hirano, M.12
-
69
-
-
0035887745
-
Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice
-
L. Sörensen, M. Ekstrand, J.P. Silva, E. Lindqvist, B. Xu, P. Rustin, L. Olson, and N.G. Larsson Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice J. Neurosci. 21 2001 8082 8090
-
(2001)
J. Neurosci.
, vol.21
, pp. 8082-8090
-
-
Sörensen, L.1
Ekstrand, M.2
Silva, J.P.3
Lindqvist, E.4
Xu, B.5
Rustin, P.6
Olson, L.7
Larsson, N.G.8
-
70
-
-
66049104206
-
MTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription
-
T. Wenz, C. Luca, A. Torraco, and C.T. Moraes mTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription Cell Metab. 9 2009 499 511
-
(2009)
Cell Metab.
, vol.9
, pp. 499-511
-
-
Wenz, T.1
Luca, C.2
Torraco, A.3
Moraes, C.T.4
-
71
-
-
29144486726
-
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
-
H. Tyynismaa, K.P. Mjosund, S. Wanrooij, I. Lappalainen, E. Ylikallio, A. Jalanko, J.N. Spelbrink, A. Paetau, and A. Suomalainen Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice Proc. Natl. Acad. Sci. U. S. A. 102 2005 17687 17692
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 17687-17692
-
-
Tyynismaa, H.1
Mjosund, K.P.2
Wanrooij, S.3
Lappalainen, I.4
Ylikallio, E.5
Jalanko, A.6
Spelbrink, J.N.7
Paetau, A.8
Suomalainen, A.9
-
72
-
-
27444447841
-
Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation
-
J.K. Sandhu, C. Sodja, K. McRae, Y. Li, P. Rippstein, Y.-H. Wei, B. Lach, F. Lee, S. Bucurescu, M.-E. Harper, and M. Sikorska Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation Biochem. J. 391 2005 191 202
-
(2005)
Biochem. J.
, vol.391
, pp. 191-202
-
-
Sandhu, J.K.1
Sodja, C.2
McRae, K.3
Li, Y.4
Rippstein, P.5
Wei, Y.-H.6
Lach, B.7
Lee, F.8
Bucurescu, S.9
Harper, M.-E.10
Sikorska, M.11
-
73
-
-
84859034463
-
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS
-
V. Desquiret-Dumas, N. Gueguen, M. Barth, A. Chevrollier, S. Hancock, D.C. Wallace, P. Amati-Bonneau, D. Henrion, D. Bonneau, P. Reynier, and V. Procaccio Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS Biochim. Biophys. Acta 1822 2012 1019 1029
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1019-1029
-
-
Desquiret-Dumas, V.1
Gueguen, N.2
Barth, M.3
Chevrollier, A.4
Hancock, S.5
Wallace, D.C.6
Amati-Bonneau, P.7
Henrion, D.8
Bonneau, D.9
Reynier, P.10
Procaccio, V.11
-
74
-
-
77952492113
-
Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration
-
S. Bartesaghi, J. Betts-Henderson, K. Cain, D. Dinsdale, X. Zhou, A. Karlsson, P. Salomoni, and P. Nicotera Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration Hum. Mol. Genet. 19 2010 1669 1677
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 1669-1677
-
-
Bartesaghi, S.1
Betts-Henderson, J.2
Cain, K.3
Dinsdale, D.4
Zhou, X.5
Karlsson, A.6
Salomoni, P.7
Nicotera, P.8
-
75
-
-
77749330821
-
Mitochondrial DNA toxicity in forebrain neurons causes apoptosis, neurodegeneration, and impaired behavior
-
K.H. Lauritzen, O. Moldestad, L. Eide, H. Carlsen, G. Nesse, J.F. Storm, I.M. Mansuy, L.H. Bergersen, and A. Klungland Mitochondrial DNA toxicity in forebrain neurons causes apoptosis, neurodegeneration, and impaired behavior Mol. Cell. Biol. 30 2010 1357 1367
-
(2010)
Mol. Cell. Biol.
, vol.30
, pp. 1357-1367
-
-
Lauritzen, K.H.1
Moldestad, O.2
Eide, L.3
Carlsen, H.4
Nesse, G.5
Storm, J.F.6
Mansuy, I.M.7
Bergersen, L.H.8
Klungland, A.9
-
76
-
-
79957959532
-
Friedreich's ataxia: Past, present and future
-
D. Marmolino Friedreich's ataxia: Past, present and future Brain Res. Rev. 67 2011 311 330
-
(2011)
Brain Res. Rev.
, vol.67
, pp. 311-330
-
-
Marmolino, D.1
-
77
-
-
84858054466
-
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models
-
A. Martelli, M. Napierala, and H. Puccio Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models Dis. Model. Mech. 5 2012 165 176
-
(2012)
Dis. Model. Mech.
, vol.5
, pp. 165-176
-
-
Martelli, A.1
Napierala, M.2
Puccio, H.3
-
78
-
-
47249142777
-
Iron-sulfur cluster biogenesis and human disease
-
T.A. Rouault, and W.-H. Tong Iron-sulfur cluster biogenesis and human disease Trends Genet. 24 2008 398 407
-
(2008)
Trends Genet.
, vol.24
, pp. 398-407
-
-
Rouault, T.A.1
Tong, W.-H.2
-
79
-
-
1442324707
-
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
-
D. Simon, H. Seznec, A. Gansmuller, N. Carelle, P. Weber, D. Metzger, P. Rustin, M. Koenig, and H. Puccio Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia J. Neurosci. 24 2004 1987 1995
-
(2004)
J. Neurosci.
, vol.24
, pp. 1987-1995
-
-
Simon, D.1
Seznec, H.2
Gansmuller, A.3
Carelle, N.4
Weber, P.5
Metzger, D.6
Rustin, P.7
Koenig, M.8
Puccio, H.9
-
80
-
-
0036086130
-
Free radicals in the physiological control of cell function
-
W. Droge Free radicals in the physiological control of cell function Physiol. Rev. 82 2002 47
-
(2002)
Physiol. Rev.
, vol.82
, pp. 47
-
-
Droge, W.1
-
82
-
-
77955972189
-
Is Amyotrophic Lateral Sclerosis a Mitochondrial Channelopathy?
-
V. Le Verche, and S. Przedborski Is Amyotrophic Lateral Sclerosis a Mitochondrial Channelopathy? Neuron 67 2010 523 524
-
(2010)
Neuron
, vol.67
, pp. 523-524
-
-
Le Verche, V.1
Przedborski, S.2
-
83
-
-
84879872504
-
Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction
-
G. Benard, T. Trian, N. Bellance, P. Berger, J. Lavie, C. Espil-Taris, C. Rocher, S. Eimer-Bouillot, C. Goizet, K. Nouette-Gaulain, T. Letellier, D. Lacombe, and R. Rossignol Adaptative Capacity of Mitochondrial Biogenesis and of Mitochondrial Dynamics in Response to Pathogenic Respiratory Chain Dysfunction Antioxid. Redox Signal. 19 2013 350 365
-
(2013)
Antioxid. Redox Signal.
, vol.19
, pp. 350-365
-
-
Benard, G.1
Trian, T.2
Bellance, N.3
Berger, P.4
Lavie, J.5
Espil-Taris, C.6
Rocher, C.7
Eimer-Bouillot, S.8
Goizet, C.9
Nouette-Gaulain, K.10
Letellier, T.11
Lacombe, D.12
Rossignol, R.13
-
84
-
-
84871749760
-
Mitochondrial morphology in mitophagy and macroautophagy
-
L.C. Gomes, and L. Scorrano Mitochondrial morphology in mitophagy and macroautophagy Mol. Cell Res. 1833 2013 205 212
-
(2013)
Mol. Cell Res.
, vol.1833
, pp. 205-212
-
-
Gomes, L.C.1
Scorrano, L.2
-
85
-
-
84871807044
-
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse
-
E. Sarzi, C. Angebault, M. Seveno, N. Gueguen, B. Chaix, G. Bielicki, N. Boddaert, A.-L. Mausset-Bonnefont, C. Cazevieille, V. Rigau, J.-P. Renou, J. Wang, C. Delettre, P. Brabet, J.-L. Puel, C.P. Hamel, P. Reynier, and G. Lenaers The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse Brain 135 2012 3599 3613
-
(2012)
Brain
, vol.135
, pp. 3599-3613
-
-
Sarzi, E.1
Angebault, C.2
Seveno, M.3
Gueguen, N.4
Chaix, B.5
Bielicki, G.6
Boddaert, N.7
Mausset-Bonnefont, A.-L.8
Cazevieille, C.9
Rigau, V.10
Renou, J.-P.11
Wang, J.12
Delettre, C.13
Brabet, P.14
Puel, J.-L.15
Hamel, C.P.16
Reynier, P.17
Lenaers, G.18
-
86
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
C. Alexander, M. Votruba, U.E. Pesch, D.L. Thiselton, S. Mayer, A. Moore, M. Rodriguez, U. Kellner, B. Leo-Kottler, G. Auburger, S.S. Bhattacharya, and B. Wissinger OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 Nat. Genet. 26 2000 211 215
-
(2000)
Nat. Genet.
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
Rodriguez, M.7
Kellner, U.8
Leo-Kottler, B.9
Auburger, G.10
Bhattacharya, S.S.11
Wissinger, B.12
-
87
-
-
34547601410
-
Mitochondrial fusion protects against neurodegeneration in the cerebellum
-
H. Chen, J.M. McCaffery, and D.C. Chan Mitochondrial fusion protects against neurodegeneration in the cerebellum Cell 130 2007 548 562
-
(2007)
Cell
, vol.130
, pp. 548-562
-
-
Chen, H.1
McCaffery, J.M.2
Chan, D.C.3
-
88
-
-
84864193527
-
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations
-
V. Agier, P. Oliviero, J. Lainé, C. L'Hermitte-Stead, S. Girard, S. Fillaut, C. Jardel, F. Bouillaud, A.L. Bulteau, and A. Lombès Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations Biochim. Biophys. Acta 1822 2012 1570 1580
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1570-1580
-
-
Agier, V.1
Oliviero, P.2
Lainé, J.3
L'Hermitte-Stead, C.4
Girard, S.5
Fillaut, S.6
Jardel, C.7
Bouillaud, F.8
Bulteau, A.L.9
Lombès, A.10
-
89
-
-
0035344460
-
Versatility of the mitochondrial protein import machinery
-
N. Pfanner, and A. Geissler Versatility of the mitochondrial protein import machinery Nat. Rev. Mol. Cell Biol. 2 2001 339 349
-
(2001)
Nat. Rev. Mol. Cell Biol.
, vol.2
, pp. 339-349
-
-
Pfanner, N.1
Geissler, A.2
-
90
-
-
24644462789
-
Mitochondria and calcium signaling
-
D.G. Nicholls Mitochondria and calcium signaling Cell Calcium 38 2005 311 317
-
(2005)
Cell Calcium
, vol.38
, pp. 311-317
-
-
Nicholls, D.G.1
-
91
-
-
77950221314
-
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations
-
A.Y. Abramov, T.K. Smulders-Srinivasan, D.M. Kirby, R. Acin-Perez, J.A. Enriquez, R.N. Lightowlers, M.R. Duchen, and D.M. Turnbull Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations Brain 133 2010 797 807
-
(2010)
Brain
, vol.133
, pp. 797-807
-
-
Abramov, A.Y.1
Smulders-Srinivasan, T.K.2
Kirby, D.M.3
Acin-Perez, R.4
Enriquez, J.A.5
Lightowlers, R.N.6
Duchen, M.R.7
Turnbull, D.M.8
-
92
-
-
0032483497
-
Functional F1-ATPase essential in maintaining growth and membrane potential of human mitochondrial DNA-depleted rho degrees cells
-
K. Buchet, and C. Godinot Functional F1-ATPase essential in maintaining growth and membrane potential of human mitochondrial DNA-depleted rho degrees cells J. Biol. Chem. 273 1998 22983 22989
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 22983-22989
-
-
Buchet, K.1
Godinot, C.2
-
93
-
-
34547146580
-
Impaired mitochondrial Ca2 + homeostasis in respiratory chain-deficient cells but efficient compensation of energetic disadvantage by enhanced anaerobic glycolysis due to low ATP steady state levels
-
J.-C. von Kleist-Retzow, H.-T. Hornig-Do, M. Schauen, S. Eckertz, T.A.D. Dinh, F. Stassen, N. Lottmann, M. Bust, B. Galunska, K. Wielckens, W. Hein, J. Beuth, J.-M. Braun, J.H. Fischer, V.Y. Ganitkevich, K. Maniura-Weber, and R.J. Wiesner Impaired mitochondrial Ca2 + homeostasis in respiratory chain-deficient cells but efficient compensation of energetic disadvantage by enhanced anaerobic glycolysis due to low ATP steady state levels Exp. Cell Res. 313 2007 3076 3089
-
(2007)
Exp. Cell Res.
, vol.313
, pp. 3076-3089
-
-
Von Kleist-Retzow, J.-C.1
Hornig-Do, H.-T.2
Schauen, M.3
Eckertz, S.4
Dinh, T.A.D.5
Stassen, F.6
Lottmann, N.7
Bust, M.8
Galunska, B.9
Wielckens, K.10
Hein, W.11
Beuth, J.12
Braun, J.-M.13
Fischer, J.H.14
Ganitkevich, V.Y.15
Maniura-Weber, K.16
Wiesner, R.J.17
-
94
-
-
0023544901
-
Energy metabolism and contractile function in rat heart during graded, isovolumic perfusion using 31P nuclear magnetic resonance spectroscopy
-
K. Clarke, and R.J. Willis Energy metabolism and contractile function in rat heart during graded, isovolumic perfusion using 31P nuclear magnetic resonance spectroscopy J. Mol. Cell. Cardiol. 19 1987 1153 1160
-
(1987)
J. Mol. Cell. Cardiol.
, vol.19
, pp. 1153-1160
-
-
Clarke, K.1
Willis, R.J.2
-
95
-
-
9444226972
-
Control of mitochondrial motility and distribution by the calcium signal: A homeostatic circuit
-
M. Yi, D. Weaver, and G. Hajnóczky Control of mitochondrial motility and distribution by the calcium signal: a homeostatic circuit J. Cell Biol. 167 2004 661 672
-
(2004)
J. Cell Biol.
, vol.167
, pp. 661-672
-
-
Yi, M.1
Weaver, D.2
Hajnóczky, G.3
-
96
-
-
77950279988
-
Mitochondrial DNA mutations affect calcium handling in differentiated neurons
-
A.J. Trevelyan, D.M. Kirby, T.K. Smulders-Srinivasan, M. Nooteboom, R. Acin-Perez, J.A. Enriquez, M.A. Whittington, R.N. Lightowlers, and D.M. Turnbull Mitochondrial DNA mutations affect calcium handling in differentiated neurons Brain 133 2010 787 796
-
(2010)
Brain
, vol.133
, pp. 787-796
-
-
Trevelyan, A.J.1
Kirby, D.M.2
Smulders-Srinivasan, T.K.3
Nooteboom, M.4
Acin-Perez, R.5
Enriquez, J.A.6
Whittington, M.A.7
Lightowlers, R.N.8
Turnbull, D.M.9
-
97
-
-
68649096406
-
Modulation of calcium signalling by mitochondria
-
C. Walsh, S. Barrow, S. Voronina, M. Chvanov, O.H. Petersen, and A. Tepikin Modulation of calcium signalling by mitochondria Biochim. Biophys. Acta 1787 2009 1374 1382
-
(2009)
Biochim. Biophys. Acta
, vol.1787
, pp. 1374-1382
-
-
Walsh, C.1
Barrow, S.2
Voronina, S.3
Chvanov, M.4
Petersen, O.H.5
Tepikin, A.6
-
98
-
-
67749122635
-
An ER-mitochondria tethering complex revealed by a synthetic biology screen
-
B. Kornmann, E. Currie, S.R. Collins, M. Schuldiner, J. Nunnari, J.S. Weissman, and P. Walter An ER-mitochondria tethering complex revealed by a synthetic biology screen Science 325 2009 477 481
-
(2009)
Science
, vol.325
, pp. 477-481
-
-
Kornmann, B.1
Currie, E.2
Collins, S.R.3
Schuldiner, M.4
Nunnari, J.5
Weissman, J.S.6
Walter, P.7
-
99
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
S. Züchner, I.V. Mersiyanova, M. Muglia, N. Bissar-Tadmouri, J. Rochelle, E.L. Dadali, M. Zappia, E. Nelis, A. Patitucci, J. Senderek, Y. Parman, O. Evgrafov, P.D. Jonghe, Y. Takahashi, S. Tsuji, M.A. Pericak-Vance, A. Quattrone, E. Battaloglu, A.V. Polyakov, and V. Timmerman et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A Nat. Genet. 36 2004 449 451
-
(2004)
Nat. Genet.
, vol.36
, pp. 449-451
-
-
Züchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
Zappia, M.7
Nelis, E.8
Patitucci, A.9
Senderek, J.10
Parman, Y.11
Evgrafov, O.12
Jonghe, P.D.13
Takahashi, Y.14
Tsuji, S.15
Pericak-Vance, M.A.16
Quattrone, A.17
Battaloglu, E.18
Polyakov, A.V.19
Timmerman, V.20
more..
-
100
-
-
38349185051
-
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
-
S.A. Detmer, C. Vande Velde, D.W. Cleveland, and D.C. Chan Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A Hum. Mol. Genet. 17 2008 367 375
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 367-375
-
-
Detmer, S.A.1
Vande Velde, C.2
Cleveland, D.W.3
Chan, D.C.4
-
101
-
-
77951896551
-
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A
-
R. Cartoni, E. Arnaud, J.-J. Médard, O. Poirot, D.S. Courvoisier, R. Chrast, and J.-C. Martinou Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A Brain 133 2010 1460 1469
-
(2010)
Brain
, vol.133
, pp. 1460-1469
-
-
Cartoni, R.1
Arnaud, E.2
Médard, J.-J.3
Poirot, O.4
Courvoisier, D.S.5
Chrast, R.6
Martinou, J.-C.7
-
102
-
-
34249693479
-
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy
-
M.V. Alavi, S. Bette, S. Schimpf, F. Schuettauf, U. Schraermeyer, H.F. Wehrl, L. Ruttiger, S.C. Beck, F. Tonagel, B.J. Pichler, M. Knipper, T. Peters, J. Laufs, and B. Wissinger A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy Brain 130 2007 1029 1042
-
(2007)
Brain
, vol.130
, pp. 1029-1042
-
-
Alavi, M.V.1
Bette, S.2
Schimpf, S.3
Schuettauf, F.4
Schraermeyer, U.5
Wehrl, H.F.6
Ruttiger, L.7
Beck, S.C.8
Tonagel, F.9
Pichler, B.J.10
Knipper, M.11
Peters, T.12
Laufs, J.13
Wissinger, B.14
-
103
-
-
66849124209
-
OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy
-
K.E. White, V.J. Davies, V.E. Hogan, M.J. Piechota, P.P. Nichols, D.M. Turnbull, and M. Votruba OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy Invest. Ophthalmol. Vis. Sci. 50 2009 2567 2571
-
(2009)
Invest. Ophthalmol. Vis. Sci.
, vol.50
, pp. 2567-2571
-
-
White, K.E.1
Davies, V.J.2
Hogan, V.E.3
Piechota, M.J.4
Nichols, P.P.5
Turnbull, D.M.6
Votruba, M.7
-
104
-
-
69849097192
-
Mitochondrial generation of free radicals and hypoxic signaling
-
R.O. Poyton, K.A. Ball, and P.R. Castello Mitochondrial generation of free radicals and hypoxic signaling Trends Endocrinol. Metab. 20 2009 332 340
-
(2009)
Trends Endocrinol. Metab.
, vol.20
, pp. 332-340
-
-
Poyton, R.O.1
Ball, K.A.2
Castello, P.R.3
-
105
-
-
34247158550
-
Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases
-
E. Trushina, and C.T. McMurray Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases Neuroscience 145 2007 1233 1248
-
(2007)
Neuroscience
, vol.145
, pp. 1233-1248
-
-
Trushina, E.1
McMurray, C.T.2
-
106
-
-
0030056515
-
Mitochondrial complex i deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase
-
S. Pitkanen, and B.H. Robinson Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase J. Clin. Investig. 98 1996 345 351
-
(1996)
J. Clin. Investig.
, vol.98
, pp. 345-351
-
-
Pitkanen, S.1
Robinson, B.H.2
-
107
-
-
38149079945
-
Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex i affect ubiquinone reduction kinetics in a bacterial model of the enzyme
-
J. Pätsi, M. Kervinen, M. Finel, and I.E. Hassinen Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme Biochem. J. 409 2008 129 137
-
(2008)
Biochem. J.
, vol.409
, pp. 129-137
-
-
Pätsi, J.1
Kervinen, M.2
Finel, M.3
Hassinen, I.E.4
-
108
-
-
0037179691
-
The harlequin mouse mutation downregulates apoptosis-inducing factor
-
J.A. Klein, C.M. Longo-Guess, M.P. Rossmann, K.L. Seburn, R.E. Hurd, W.N. Frankel, R.T. Bronson, and S.L. Ackerman The harlequin mouse mutation downregulates apoptosis-inducing factor Nature 419 2002 367 374
-
(2002)
Nature
, vol.419
, pp. 367-374
-
-
Klein, J.A.1
Longo-Guess, C.M.2
Rossmann, M.P.3
Seburn, K.L.4
Hurd, R.E.5
Frankel, W.N.6
Bronson, R.T.7
Ackerman, S.L.8
-
110
-
-
64149085276
-
Catalase delivery for inhibiting ROS-mediated tissue injury and tumor metastasis
-
M. Nishikawa, M. Hashida, and Y. Takakura Catalase delivery for inhibiting ROS-mediated tissue injury and tumor metastasis Adv. Drug Deliv. Rev. 61 2009 319 326
-
(2009)
Adv. Drug Deliv. Rev.
, vol.61
, pp. 319-326
-
-
Nishikawa, M.1
Hashida, M.2
Takakura, Y.3
-
111
-
-
34447316414
-
Trends in oxidative aging theories
-
F.L. Muller, M.S. Lustgarten, Y. Jang, A. Richardson, and H. Van Remmen Trends in oxidative aging theories Free Radic. Biol. Med. 43 2007 477 503
-
(2007)
Free Radic. Biol. Med.
, vol.43
, pp. 477-503
-
-
Muller, F.L.1
Lustgarten, M.S.2
Jang, Y.3
Richardson, A.4
Van Remmen, H.5
-
112
-
-
0029838063
-
Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice
-
R.M. Lebovitz, H. Zhang, H. Vogel, J. Cartwright, L. Dionne, N. Lu, S. Huang, and M.M. Matzuk Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice Proc. Natl. Acad. Sci. U. S. A. 93 1996 9782 9787
-
(1996)
Proc. Natl. Acad. Sci. U. S. A.
, vol.93
, pp. 9782-9787
-
-
Lebovitz, R.M.1
Zhang, H.2
Vogel, H.3
Cartwright, J.4
Dionne, L.5
Lu, N.6
Huang, S.7
Matzuk, M.M.8
-
113
-
-
0031940986
-
A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase
-
S. Melov, J.A. Schneider, B.J. Day, D. Hinerfeld, P. Coskun, S.S. Mirra, J.D. Crapo, and D.C. Wallace A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase Nat. Genet. 18 1998 159 163
-
(1998)
Nat. Genet.
, vol.18
, pp. 159-163
-
-
Melov, S.1
Schneider, J.A.2
Day, B.J.3
Hinerfeld, D.4
Coskun, P.5
Mirra, S.S.6
Crapo, J.D.7
Wallace, D.C.8
-
114
-
-
33745154155
-
Conditional knockout of Mn superoxide dismutase in postnatal motor neurons reveals resistance to mitochondrial generated superoxide radicals
-
H. Misawa, K. Nakata, J. Matsuura, Y. Moriwaki, K. Kawashima, T. Shimizu, T. Shirasawa, and R. Takahashi Conditional knockout of Mn superoxide dismutase in postnatal motor neurons reveals resistance to mitochondrial generated superoxide radicals Neurobiol. Dis. 23 2006 169 177
-
(2006)
Neurobiol. Dis.
, vol.23
, pp. 169-177
-
-
Misawa, H.1
Nakata, K.2
Matsuura, J.3
Moriwaki, Y.4
Kawashima, K.5
Shimizu, T.6
Shirasawa, T.7
Takahashi, R.8
-
115
-
-
13044285432
-
Mitochondrial disease in superoxide dismutase 2 mutant mice
-
S. Melov, P. Coskun, M. Patel, R. Tuinstra, B. Cottrell, A.S. Jun, T.H. Zastawny, M. Dizdaroglu, S.I. Goodman, T.T. Huang, H. Miziorko, C.J. Epstein, and D.C. Wallace Mitochondrial disease in superoxide dismutase 2 mutant mice Proc. Natl. Acad. Sci. U. S. A. 96 1999 846 851
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 846-851
-
-
Melov, S.1
Coskun, P.2
Patel, M.3
Tuinstra, R.4
Cottrell, B.5
Jun, A.S.6
Zastawny, T.H.7
Dizdaroglu, M.8
Goodman, S.I.9
Huang, T.T.10
Miziorko, H.11
Epstein, C.J.12
Wallace, D.C.13
-
116
-
-
0041808717
-
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells
-
G. Tan Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells Hum. Mol. Genet. 12 2003 1699 1711
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1699-1711
-
-
Tan, G.1
-
117
-
-
33749638768
-
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
-
S. Al-Mahdawi, R.M. Pinto, D. Varshney, L. Lawrence, M.B. Lowrie, S. Hughes, Z. Webster, J. Blake, J.M. Cooper, R. King, and M.A. Pook GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology Genomics 88 2006 580 590
-
(2006)
Genomics
, vol.88
, pp. 580-590
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Varshney, D.3
Lawrence, L.4
Lowrie, M.B.5
Hughes, S.6
Webster, Z.7
Blake, J.8
Cooper, J.M.9
King, R.10
Pook, M.A.11
-
118
-
-
79956319776
-
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation
-
B. Dorado, E. Area, H.O. Akman, and M. Hirano Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation Hum. Mol. Genet. 20 2011 155 164
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 155-164
-
-
Dorado, B.1
Area, E.2
Akman, H.O.3
Hirano, M.4
-
119
-
-
48049104077
-
Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice
-
X. Zhou, N. Solaroli, M. Bjerke, J.B. Stewart, B. Rozell, M. Johansson, and A. Karlsson Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice Hum. Mol. Genet. 17 2008 2329 2335
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2329-2335
-
-
Zhou, X.1
Solaroli, N.2
Bjerke, M.3
Stewart, J.B.4
Rozell, B.5
Johansson, M.6
Karlsson, A.7
-
120
-
-
29144458899
-
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production
-
A. Trifunovic, A. Hansson, A. Wredenberg, A.T. Rovio, E. Dufour, I. Khvorostov, J.N. Spelbrink, R. Wibom, H.T. Jacobs, and N.-G. Larsson Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production Proc. Natl. Acad. Sci. U. S. A. 102 2005 17993 17998
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 17993-17998
-
-
Trifunovic, A.1
Hansson, A.2
Wredenberg, A.3
Rovio, A.T.4
Dufour, E.5
Khvorostov, I.6
Spelbrink, J.N.7
Wibom, R.8
Jacobs, H.T.9
Larsson, N.-G.10
-
121
-
-
84865086994
-
Altered Anesthetic Sensitivity of Mice Lacking Ndufs4, a Subunit of Mitochondrial Complex i
-
A. Quintana, P.G. Morgan, S.E. Kruse, R.D. Palmiter, and M.M. Sedensky Altered Anesthetic Sensitivity of Mice Lacking Ndufs4, a Subunit of Mitochondrial Complex I PLoS ONE 7 2012 e42904
-
(2012)
PLoS ONE
, vol.7
, pp. 42904
-
-
Quintana, A.1
Morgan, P.G.2
Kruse, S.E.3
Palmiter, R.D.4
Sedensky, M.M.5
-
122
-
-
44949183554
-
Loss of apoptosis-inducing factor results in cell-type-specific neurogenesis defects
-
R. Ishimura, G.R. Martin, and S.L. Ackerman Loss of apoptosis-inducing factor results in cell-type-specific neurogenesis defects J. Neurosci. 28 2008 4938 4948
-
(2008)
J. Neurosci.
, vol.28
, pp. 4938-4948
-
-
Ishimura, R.1
Martin, G.R.2
Ackerman, S.L.3
-
123
-
-
33846636481
-
Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons
-
M.I. Ekstrand, M. Terzioglu, D. Galter, S. Zhu, C. Hofstetter, E. Lindqvist, S. Thams, A. Bergstrand, F.S. Hansson, A. Trifunovic, B. Hoffer, S. Cullheim, A.H. Mohammed, L. Olson, and N.-G. Larsson Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons Proc. Natl. Acad. Sci. U. S. A. 104 2007 1325 1330
-
(2007)
Proc. Natl. Acad. Sci. U. S. A.
, vol.104
, pp. 1325-1330
-
-
Ekstrand, M.I.1
Terzioglu, M.2
Galter, D.3
Zhu, S.4
Hofstetter, C.5
Lindqvist, E.6
Thams, S.7
Bergstrand, A.8
Hansson, F.S.9
Trifunovic, A.10
Hoffer, B.11
Cullheim, S.12
Mohammed, A.H.13
Olson, L.14
Larsson, N.-G.15
-
124
-
-
77949342539
-
MitoPark mice mirror the slow progression of key symptoms and L-DOPA response in Parkinson's disease
-
D. Galter, K. Pernold, T. Yoshitake, E. Lindqvist, B. Hoffer, J. Kehr, N.G. Larsson, and L. Olson MitoPark mice mirror the slow progression of key symptoms and L-DOPA response in Parkinson's disease Genes Brain Behav. 9 2010 173 181
-
(2010)
Genes Brain Behav.
, vol.9
, pp. 173-181
-
-
Galter, D.1
Pernold, K.2
Yoshitake, T.3
Lindqvist, E.4
Hoffer, B.5
Kehr, J.6
Larsson, N.G.7
Olson, L.8
-
125
-
-
51649126499
-
Reverse of age-dependent memory impairment and mitochondrial DNA damage in microglia by an overexpression of human mitochondrial transcription factor a in mice
-
Y. Hayashi, M. Yoshida, M. Yamato, T. Ide, Z. Wu, M. Ochi-Shindou, T. Kanki, D. Kang, K. Sunagawa, H. Tsutsui, and H. Nakanishi Reverse of age-dependent memory impairment and mitochondrial DNA damage in microglia by an overexpression of human mitochondrial transcription factor a in mice J. Neurosci. 28 2008 8624 8634
-
(2008)
J. Neurosci.
, vol.28
, pp. 8624-8634
-
-
Hayashi, Y.1
Yoshida, M.2
Yamato, M.3
Ide, T.4
Wu, Z.5
Ochi-Shindou, M.6
Kanki, T.7
Kang, D.8
Sunagawa, K.9
Tsutsui, H.10
Nakanishi, H.11
-
126
-
-
35248837377
-
Somatic mtDNA mutations cause progressive hearing loss in the mouse
-
X. Niu, A. Trifunovic, N.-G. Larsson, and B. Canlon Somatic mtDNA mutations cause progressive hearing loss in the mouse Exp. Cell Res. 313 2007 3924 3934
-
(2007)
Exp. Cell Res.
, vol.313
, pp. 3924-3934
-
-
Niu, X.1
Trifunovic, A.2
Larsson, N.-G.3
Canlon, B.4
-
127
-
-
22344456832
-
Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging
-
G.C. Kujoth Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging Science 309 2005 481 484
-
(2005)
Science
, vol.309
, pp. 481-484
-
-
Kujoth, G.C.1
-
128
-
-
0036291870
-
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
-
M. Haraguchi, H. Tsujimoto, M. Fukushima, I. Higuchi, H. Kuribayashi, H. Utsumi, A. Nakayama, Y. Hashizume, J. Hirato, H. Yoshida, H. Hara, S. Hamano, H. Kawaguchi, T. Furukawa, K. Miyazono, F. Ishikawa, H. Toyoshima, T. Kaname, M. Komatsu, and Z.-S. Chen et al. Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice Mol. Cell. Biol. 22 2002 5212 5221
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 5212-5221
-
-
Haraguchi, M.1
Tsujimoto, H.2
Fukushima, M.3
Higuchi, I.4
Kuribayashi, H.5
Utsumi, H.6
Nakayama, A.7
Hashizume, Y.8
Hirato, J.9
Yoshida, H.10
Hara, H.11
Hamano, S.12
Kawaguchi, H.13
Furukawa, T.14
Miyazono, K.15
Ishikawa, F.16
Toyoshima, H.17
Kaname, T.18
Komatsu, M.19
Chen, Z.-S.20
more..
-
129
-
-
71549168988
-
Retinal ganglion cells are primarily affected in an animal model of OPA1 associated autosomal dominant optic atrophy
-
P. Heiduschka, S. Schnichels, N. Fuhrmann, S. Hofmeister, U. Schraermeyer, B. Wissinger, and M.V. Alavi Retinal ganglion cells are primarily affected in an animal model of OPA1 associated autosomal dominant optic atrophy Invest. Ophthalmol. Vis. Sci. 2009
-
(2009)
Invest. Ophthalmol. Vis. Sci.
-
-
Heiduschka, P.1
Schnichels, S.2
Fuhrmann, N.3
Hofmeister, S.4
Schraermeyer, U.5
Wissinger, B.6
Alavi, M.V.7
-
130
-
-
71549143796
-
Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy
-
M.V. Alavi, N. Fuhrmann, H.P. Nguyen, P. Yu-Wai-Man, P. Heiduschka, P.F. Chinnery, and B. Wissinger Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy Exp. Neurol. 220 2009 404 409
-
(2009)
Exp. Neurol.
, vol.220
, pp. 404-409
-
-
Alavi, M.V.1
Fuhrmann, N.2
Nguyen, H.P.3
Yu-Wai-Man, P.4
Heiduschka, P.5
Chinnery, P.F.6
Wissinger, B.7
-
131
-
-
22544451586
-
Disruption of fusion results in mitochondrial heterogeneity and dysfunction
-
H. Chen, A. Chomyn, and D.C. Chan Disruption of fusion results in mitochondrial heterogeneity and dysfunction J. Biol. Chem. 280 2005 26185 26192
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 26185-26192
-
-
Chen, H.1
Chomyn, A.2
Chan, D.C.3
-
132
-
-
0037455575
-
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
-
H. Chen, S.A. Detmer, A.J. Ewald, E.E. Griffin, S.E. Fraser, and D.C. Chan Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development J. Cell Biol. 160 2003 189 200
-
(2003)
J. Cell Biol.
, vol.160
, pp. 189-200
-
-
Chen, H.1
Detmer, S.A.2
Ewald, A.J.3
Griffin, E.E.4
Fraser, S.E.5
Chan, D.C.6
|