-
1
-
-
33750347347
-
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
-
Lin MT, Beal MF. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature. 2006;443:787-795.
-
(2006)
Nature
, vol.443
, pp. 787-795
-
-
Lin, M.T.1
Beal, M.F.2
-
2
-
-
0029816017
-
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
-
Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 1996;59:481-485.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 481-485
-
-
Mackey, D.A.1
Oostra, R.J.2
Rosenberg, T.3
-
3
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000; 26:211-215.
-
(2000)
Nat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
-
4
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin J, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000;26:207-210.
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.3
-
5
-
-
79955634098
-
Optic Disc Evaluation in Optic Neuropathies The Optic Disc Assessment Project
-
O'Neill EC, Danesh-Meyer HV, Kong GX, et al. Optic Disc Evaluation in Optic Neuropathies The Optic Disc Assessment Project. Ophthalmology. 2011;118(5):964-970.
-
(2011)
Ophthalmology
, vol.118
, Issue.5
, pp. 964-970
-
-
O'Neill, E.C.1
Danesh-Meyer, H.V.2
Kong, G.X.3
-
6
-
-
0028679484
-
Genetic risk factor in primary open-angle glaucoma: A case-control study
-
Charliat G, Jolly D, Blanchard F. Genetic risk factor in primary open-angle glaucoma: a case-control study. Ophthalmic Epidemiol. 1994;1:131-138.
-
(1994)
Ophthalmic Epidemiol
, vol.1
, pp. 131-138
-
-
Charliat, G.1
Jolly, D.2
Blanchard, F.3
-
7
-
-
33745675536
-
Mitochondrial abnormalities in patients with primary open-angle glaucoma
-
Abu-Amero KK, Morales J, Bosley TM. Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006;47:2533-2541.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 2533-2541
-
-
Abu-Amero, K.K.1
Morales, J.2
Bosley, T.M.3
-
8
-
-
79960323487
-
Increase in mitochondrial DNA mutations impairs retinal function and renders the retina vulnerable to injury
-
Kong YX, Van Bergen N, Trounce IA, et al. Increase in mitochondrial DNA mutations impairs retinal function and renders the retina vulnerable to injury. Aging Cell. 2011;10(4): 572-583.
-
(2011)
Aging Cell
, vol.10
, Issue.4
, pp. 572-583
-
-
Kong, Y.X.1
van Bergen, N.2
Trounce, I.A.3
-
9
-
-
0036590018
-
Investigating the association between OPA1 polymorphisms and glaucoma: Comparison between normal tension and high tension primary open angle glaucoma
-
Aung T, Ocaka L, Ebenezer ND, et al. Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Hum Genet. 2002;110:513-514.
-
(2002)
Hum Genet
, vol.110
, pp. 513-514
-
-
Aung, T.1
Ocaka, L.2
Ebenezer, N.D.3
-
10
-
-
0036461078
-
A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene
-
Aung T, Ocaka L, Ebenezer ND, et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet. 2002;110:52-56.
-
(2002)
Hum Genet
, vol.110
, pp. 52-56
-
-
Aung, T.1
Ocaka, L.2
Ebenezer, N.D.3
-
11
-
-
33845496314
-
The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma
-
Mabuchi F, Tang S, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am J Ophthalmol. 2007;143:125-130.
-
(2007)
Am J Ophthalmol
, vol.143
, pp. 125-130
-
-
Mabuchi, F.1
Tang, S.2
Kashiwagi, K.3
Yamagata, Z.4
Iijima, H.5
Tsukahara, S.6
-
12
-
-
0346039157
-
Polymorphisms in OPA1 are associated with normal tension glaucoma
-
Powell BL, Toomes C, Scott S, et al. Polymorphisms in OPA1 are associated with normal tension glaucoma. Mol Vis. 2003;9: 460-464.
-
(2003)
Mol Vis
, vol.9
, pp. 460-464
-
-
Powell, B.L.1
Toomes, C.2
Scott, S.3
-
13
-
-
77349113820
-
OPA1 increases the risk of normal but not high tension glaucoma
-
Yu-Wai-Man P, Stewart JD, Hudson G, et al. OPA1 increases the risk of normal but not high tension glaucoma. J Med Genet. 2010;47(2):120-125.
-
(2010)
J Med Genet
, vol.47
, Issue.2
, pp. 120-125
-
-
Yu-Wai-Man, P.1
Stewart, J.D.2
Hudson, G.3
-
14
-
-
0034704125
-
Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
-
Brown MD, Trounce IA, Jun AS, Allen JC, Wallace DC. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem. 2000; 275:39831-39836.
-
(2000)
J Biol Chem
, vol.275
, pp. 39831-39836
-
-
Brown, M.D.1
Trounce, I.A.2
Jun, A.S.3
Allen, J.C.4
Wallace, D.C.5
-
15
-
-
0035892808
-
Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
-
Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet. 2001;104: 331-338.
-
(2001)
Am J Med Genet
, vol.104
, pp. 331-338
-
-
Brown, M.D.1
Allen, J.C.2
van Stavern, G.P.3
Newman, N.J.4
Wallace, D.C.5
-
16
-
-
79959418295
-
Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy
-
Van Bergen N, Crowston J, Kearns L, et al. Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy. PLoS One. 2011;6:e21347.
-
(2011)
PLoS One
, vol.6
-
-
van Bergen, N.1
Crowston, J.2
Kearns, L.3
-
19
-
-
13544267711
-
CEPH individuals are representative of the European American population: Implications for pharmacogenetics
-
Meucci MA, Marsh S, Watters JW, McLeod HL. CEPH individuals are representative of the European American population: implications for pharmacogenetics. Pharmacogenomics. 2005;6:59-63.
-
(2005)
Pharmacogenomics
, vol.6
, pp. 59-63
-
-
Meucci, M.A.1
Marsh, S.2
Watters, J.W.3
McLeod, H.L.4
-
20
-
-
29744438814
-
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
-
Garcia-Barcelo M, So MT, Lau DK, et al. Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Clin Chem. 2006;52:46-52.
-
(2006)
Clin Chem
, vol.52
, pp. 46-52
-
-
Garcia-Barcelo, M.1
So, M.T.2
Lau, D.K.3
-
21
-
-
34548809118
-
Expression of SMARCB1 modulates steroid sensitivity in human lymphoblastoid cells: Identification of a promoter SNP that alters PARP1 binding and SMARCB1 expression
-
Pottier N, Cheok MH, Yang W, et al. Expression of SMARCB1 modulates steroid sensitivity in human lymphoblastoid cells: identification of a promoter SNP that alters PARP1 binding and SMARCB1 expression. Hum Mol Genet. 2007;16:2261-2271.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2261-2271
-
-
Pottier, N.1
Cheok, M.H.2
Yang, W.3
-
22
-
-
69349091330
-
Germline genomic variants associated with childhood acute lymphoblastic leukemia
-
Trevino LR, Yang W, French D, et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet. 2009;41:1001-1005.
-
(2009)
Nat Genet
, vol.41
, pp. 1001-1005
-
-
Trevino, L.R.1
Yang, W.2
French, D.3
-
23
-
-
0026457218
-
Nonviability of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts
-
Robinson BH, Petrova-Benedict R, Buncic JR, Wallace DC. Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. Biochem Med Metab Biol. 1992;48:122-126.
-
(1992)
Biochem Med Metab Biol
, vol.48
, pp. 122-126
-
-
Robinson, B.H.1
Petrova-Benedict, R.2
Buncic, J.R.3
Wallace, D.C.4
-
24
-
-
33745700213
-
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III
-
Bonora E, Porcelli AM, Gasparre G, et al. Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III. Cancer Res. 2006;66:6087-6096.
-
(2006)
Cancer Res
, vol.66
, pp. 6087-6096
-
-
Bonora, E.1
Porcelli, A.M.2
Gasparre, G.3
-
25
-
-
24644461049
-
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G
-
Zanna C, Ghelli A, Porcelli AM, Martinuzzi A, Carelli V, Rugolo M. Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. Apoptosis. 2005;10:997-1007.
-
(2005)
Apoptosis
, vol.10
, pp. 997-1007
-
-
Zanna, C.1
Ghelli, A.2
Porcelli, A.M.3
Martinuzzi, A.4
Carelli, V.5
Rugolo, M.6
-
27
-
-
29744454546
-
High-resolution respirometry-a modern tool in aging research
-
Hutter E, Unterluggauer H, Garedew A, Jansen-Durr P, Gnaiger E. High-resolution respirometry-a modern tool in aging research. Exp Gerontol. 2006;41:103-109.
-
(2006)
Exp Gerontol
, vol.41
, pp. 103-109
-
-
Hutter, E.1
Unterluggauer, H.2
Garedew, A.3
Jansen-Durr, P.4
Gnaiger, E.5
-
28
-
-
0037184606
-
H2O2-mediated oxidative stress versus cold ischemia-reperfusion: Mitochondrial respiratory defects in cultured human endothelial cells
-
Stadlmann S, Rieger G, Amberger A, Kuznetsov AV, Margreiter R, Gnaiger E. H2O2-mediated oxidative stress versus cold ischemia-reperfusion: mitochondrial respiratory defects in cultured human endothelial cells. Transplantation. 2002;74: 1800-1803.
-
(2002)
Transplantation
, vol.74
, pp. 1800-1803
-
-
Stadlmann, S.1
Rieger, G.2
Amberger, A.3
Kuznetsov, A.V.4
Margreiter, R.5
Gnaiger, E.6
-
31
-
-
0035349906
-
The genetics and pathology of oxidative phosphorylation
-
Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet. 2001; 2:342-352.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 342-352
-
-
Smeitink, J.1
van den Heuvel, L.2
Dimauro, S.3
-
32
-
-
46749111893
-
Hereditary optic neuropathies share a common mitochondrial coupling defect
-
Chevrollier A, Guillet V, Loiseau D, et al. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol. 2008;63:794-798.
-
(2008)
Ann Neurol
, vol.63
, pp. 794-798
-
-
Chevrollier, A.1
Guillet, V.2
Loiseau, D.3
-
33
-
-
34250630964
-
Mitochondrial optic neuropathies: How two genomes may kill the same cell type?
-
Carelli V, La Morgia C, Iommarini L, et al. Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Biosci Rep. 2007;27:173-184.
-
(2007)
Biosci Rep
, vol.27
, pp. 173-184
-
-
Carelli, V.1
la Morgia, C.2
Iommarini, L.3
-
34
-
-
33745028132
-
The role of mitochondria in inherited neurodegenerative diseases
-
Kwong JQ, Beal MF, Manfredi G. The role of mitochondria in inherited neurodegenerative diseases. J Neurochem. 2006;97: 1659-1675.
-
(2006)
J Neurochem
, vol.97
, pp. 1659-1675
-
-
Kwong, J.Q.1
Beal, M.F.2
Manfredi, G.3
-
35
-
-
77954657877
-
Complex I: Inhibitors, inhibition and neurodegeneration
-
Schapira AH. Complex I: inhibitors, inhibition and neurodegeneration. Experimental neurology. 2010;224:331-335.
-
(2010)
Experimental Neurology
, vol.224
, pp. 331-335
-
-
Schapira, A.H.1
-
37
-
-
0035136729
-
Oxygen distribution and consumption within the retina in vascularised and avascular retinas and in animal models of retinal disease
-
Yu DY, Cringle SJ. Oxygen distribution and consumption within the retina in vascularised and avascular retinas and in animal models of retinal disease. Prog Retin Eye Res. 2001;20: 175-208.
-
(2001)
Prog Retin Eye Res
, vol.20
, pp. 175-208
-
-
Yu, D.Y.1
Cringle, S.J.2
-
38
-
-
0033008908
-
Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina
-
Andrews RM, Griffiths PG, Johnson MA, Turnbull DM. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina. Br J Ophthalmol. 1999;83: 231-235.
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 231-235
-
-
Andrews, R.M.1
Griffiths, P.G.2
Johnson, M.A.3
Turnbull, D.M.4
-
39
-
-
0036275652
-
The distribution of mitochondrial activity in relation to optic nerve structure
-
Bristow EA, Griffiths PG, Andrews RM, Johnson MA, Turnbull DM. The distribution of mitochondrial activity in relation to optic nerve structure. Arch Ophthalmol. 2002;120:791-796.
-
(2002)
Arch Ophthalmol
, vol.120
, pp. 791-796
-
-
Bristow, E.A.1
Griffiths, P.G.2
Andrews, R.M.3
Johnson, M.A.4
Turnbull, D.M.5
-
40
-
-
0028826436
-
Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in humans and other mammals
-
Hollander H, Makarov F, Stefani FH, Stone J. Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in humans and other mammals. Ophthalmic Res. 1995;27:296-309.
-
(1995)
Ophthalmic Res
, vol.27
, pp. 296-309
-
-
Hollander, H.1
Makarov, F.2
Stefani, F.H.3
Stone, J.4
-
41
-
-
0017370816
-
Orthograde and retrograde axoplasmic transport during acute ocular hyper-tension in the monkey
-
Minckler DS, Bunt AH, Johanson GW. Orthograde and retrograde axoplasmic transport during acute ocular hyper-tension in the monkey. Invest Ophthalmol Vis Sci. 1977;16: 426-441.
-
(1977)
Invest Ophthalmol Vis Sci
, vol.16
, pp. 426-441
-
-
Minckler, D.S.1
Bunt, A.H.2
Johanson, G.W.3
-
42
-
-
0031822283
-
Focal accumulation of intra-axonal mitochondria in demyelination of the cat optic nerve
-
Mutsaers SE, Carroll WM. Focal accumulation of intra-axonal mitochondria in demyelination of the cat optic nerve. Acta Neuropathol. 1998;96:139-143.
-
(1998)
Acta Neuropathol
, vol.96
, pp. 139-143
-
-
Mutsaers, S.E.1
Carroll, W.M.2
-
43
-
-
84855420843
-
Auditory processing deficits in individuals with primary open-angle glaucoma
-
Rance G, O'Hare F, O'Leary S, et al. Auditory processing deficits in individuals with primary open-angle glaucoma. Int J Audiol. 2012;51:10-15.
-
(2012)
Int J Audiol
, vol.51
, pp. 10-15
-
-
Rance, G.1
O'Hare, F.2
O'Leary, S.3
-
44
-
-
34250164631
-
Elevated hydrostatic pressure triggers mitochondrial fission and decreases cellular ATP in differentiated RGC-5 cells
-
Ju WK, Liu Q, Kim KY, et al. Elevated hydrostatic pressure triggers mitochondrial fission and decreases cellular ATP in differentiated RGC-5 cells. Invest Ophthalmol Vis Sci. 2007; 48:2145-2151.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 2145-2151
-
-
Ju, W.K.1
Liu, Q.2
Kim, K.Y.3
-
45
-
-
77951595956
-
Metabolic vulnerability disposes retinal ganglion cell axons to dysfunction in a model of glaucomatous degeneration
-
Baltan S, Inman DM, Danilov CA, Morrison RS, Calkins DJ, Horner PJ. Metabolic vulnerability disposes retinal ganglion cell axons to dysfunction in a model of glaucomatous degeneration. J Neurosci. 2010;30:5644-5652.
-
(2010)
J Neurosci
, vol.30
, pp. 5644-5652
-
-
Baltan, S.1
Inman, D.M.2
Danilov, C.A.3
Morrison, R.S.4
Calkins, D.J.5
Horner, P.J.6
|