-
1
-
-
20344366079
-
Mitochondrial DNA and disease
-
Dimauro S., and Davidzon G. Mitochondrial DNA and disease. Ann Med 37 (2005) 222-232
-
(2005)
Ann Med
, vol.37
, pp. 222-232
-
-
Dimauro, S.1
Davidzon, G.2
-
2
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
This comprehensive review of mtDNA disease covers mitochondrial genetics, clinical features, cellular and animal models, and mtDNA involvement in aging and cancer.
-
Taylor R.W., and Turnbull D.M. Mitochondrial DNA mutations in human disease. Nat Rev Genet 6 (2005) 389-402. This comprehensive review of mtDNA disease covers mitochondrial genetics, clinical features, cellular and animal models, and mtDNA involvement in aging and cancer.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
3
-
-
25444474703
-
Mitochondria take center stage in aging and neurodegeneration
-
Beal M.F. Mitochondria take center stage in aging and neurodegeneration. Ann Neurol 58 (2005) 495-505
-
(2005)
Ann Neurol
, vol.58
, pp. 495-505
-
-
Beal, M.F.1
-
4
-
-
1342310772
-
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
-
Ferreirinha F., Quattrini A., Pirozzi M., Valsecchi V., Dina G., Broccoli V., Auricchio A., Piemonte F., Tozzi G., Gaeta L., et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113 (2004) 231-242
-
(2004)
J Clin Invest
, vol.113
, pp. 231-242
-
-
Ferreirinha, F.1
Quattrini, A.2
Pirozzi, M.3
Valsecchi, V.4
Dina, G.5
Broccoli, V.6
Auricchio, A.7
Piemonte, F.8
Tozzi, G.9
Gaeta, L.10
-
5
-
-
77049268148
-
Synapses in the central nervous system
-
Palay S.L. Synapses in the central nervous system. J Biophys Biochem Cytol 2 (1956) 193-202
-
(1956)
J Biophys Biochem Cytol
, vol.2
, pp. 193-202
-
-
Palay, S.L.1
-
6
-
-
10944269186
-
The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses
-
Dendritic development in rat hippocampal cells correlates with mitochondrial movement into dendritic protrusions, implying a requirement for mitochondria in developing dendrites.
-
Li Z., Okamoto K., Hayashi Y., and Sheng M. The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses. Cell 119 (2004) 873-887. Dendritic development in rat hippocampal cells correlates with mitochondrial movement into dendritic protrusions, implying a requirement for mitochondria in developing dendrites.
-
(2004)
Cell
, vol.119
, pp. 873-887
-
-
Li, Z.1
Okamoto, K.2
Hayashi, Y.3
Sheng, M.4
-
7
-
-
0037137704
-
Axonal transport of mitochondria to synapses depends on milton, a novel Drosophila protein
-
Stowers R.S., Megeath L.J., Gorska-Andrzejak J., Meinertzhagen I.A., and Schwarz T.L. Axonal transport of mitochondria to synapses depends on milton, a novel Drosophila protein. Neuron 36 (2002) 1063-1077
-
(2002)
Neuron
, vol.36
, pp. 1063-1077
-
-
Stowers, R.S.1
Megeath, L.J.2
Gorska-Andrzejak, J.3
Meinertzhagen, I.A.4
Schwarz, T.L.5
-
8
-
-
23044432581
-
The GTPase dMiro is required for axonal transport of mitochondria to Drosophila synapses
-
dMiro is required for axonal transport of mitochondria. Mutants exhibit irregular synaptic boutons at neuromuscular junctions, locomotor defects, and early lethality. Strikingly, neuronal, but not muscular expression of dMiro rescues all of these defects.
-
Guo X., Macleod G.T., Wellington A., Hu F., Panchumarthi S., Schoenfield M., Marin L., Charlton M.P., Atwood H.L., and Zinsmaier K.E. The GTPase dMiro is required for axonal transport of mitochondria to Drosophila synapses. Neuron 47 (2005) 379-393. dMiro is required for axonal transport of mitochondria. Mutants exhibit irregular synaptic boutons at neuromuscular junctions, locomotor defects, and early lethality. Strikingly, neuronal, but not muscular expression of dMiro rescues all of these defects.
-
(2005)
Neuron
, vol.47
, pp. 379-393
-
-
Guo, X.1
Macleod, G.T.2
Wellington, A.3
Hu, F.4
Panchumarthi, S.5
Schoenfield, M.6
Marin, L.7
Charlton, M.P.8
Atwood, H.L.9
Zinsmaier, K.E.10
-
10
-
-
27744491193
-
Emerging functions of mammalian mitochondrial fusion and fission
-
This review covers molecular mechanisms, cellular functions, and pathophysiological consequences of mitochondrial dynamics in mammals.
-
Chen H., and Chan D.C. Emerging functions of mammalian mitochondrial fusion and fission. Hum Mol Genet 14 (2005) R283-R289. This review covers molecular mechanisms, cellular functions, and pathophysiological consequences of mitochondrial dynamics in mammals.
-
(2005)
Hum Mol Genet
, vol.14
-
-
Chen, H.1
Chan, D.C.2
-
11
-
-
0037455575
-
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
-
Chen H., Detmer S.A., Ewald A.J., Griffin E.E., Fraser S.E., and Chan D.C. 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
-
12
-
-
0037089084
-
Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo
-
Rojo M., Legros F., Chateau D., and Lombes A. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. J Cell Sci 115 (2002) 1663-1674
-
(2002)
J Cell Sci
, vol.115
, pp. 1663-1674
-
-
Rojo, M.1
Legros, F.2
Chateau, D.3
Lombes, A.4
-
13
-
-
0035057837
-
Control of mitochondrial morphology by a human mitofusin
-
Santel A., and Fuller M.T. Control of mitochondrial morphology by a human mitofusin. J Cell Sci 114 (2001) 867-874
-
(2001)
J Cell Sci
, vol.114
, pp. 867-874
-
-
Santel, A.1
Fuller, M.T.2
-
14
-
-
3843075121
-
Structural basis of mitochondrial tethering by mitofusin complexes
-
Koshiba T., Detmer S.A., Kaiser J.T., Chen H., McCaffery J.M., and Chan D.C. Structural basis of mitochondrial tethering by mitofusin complexes. Science 305 (2004) 858-862
-
(2004)
Science
, vol.305
, pp. 858-862
-
-
Koshiba, T.1
Detmer, S.A.2
Kaiser, J.T.3
Chen, H.4
McCaffery, J.M.5
Chan, D.C.6
-
15
-
-
22544451586
-
Disruption of fusion results in mitochondrial heterogeneity and dysfunction
-
Mitochondrial fusion mutants display respiratory and cell growth defects, indicating a role for fusion beyond that of mere morphology maintenance.
-
Chen H., Chomyn A., and Chan D.C. Disruption of fusion results in mitochondrial heterogeneity and dysfunction. J Biol Chem 280 (2005) 26185-26192. Mitochondrial fusion mutants display respiratory and cell growth defects, indicating a role for fusion beyond that of mere morphology maintenance.
-
(2005)
J Biol Chem
, vol.280
, pp. 26185-26192
-
-
Chen, H.1
Chomyn, A.2
Chan, D.C.3
-
17
-
-
2442421118
-
Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria
-
Griparic L., van der Wel N.N., Orozco I.J., Peters P.J., and van der Bliek A.M. Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria. J Biol Chem 279 (2004) 18792-18798
-
(2004)
J Biol Chem
, vol.279
, pp. 18792-18798
-
-
Griparic, L.1
van der Wel, N.N.2
Orozco, I.J.3
Peters, P.J.4
van der Bliek, A.M.5
-
18
-
-
0037125183
-
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
-
Olichon A., Emorine L.J., Descoins E., Pelloquin L., Brichese L., Gas N., Guillou E., Delettre C., Valette A., Hamel C.P., et al. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett 523 (2002) 171-176
-
(2002)
FEBS Lett
, vol.523
, pp. 171-176
-
-
Olichon, A.1
Emorine, L.J.2
Descoins, E.3
Pelloquin, L.4
Brichese, L.5
Gas, N.6
Guillou, E.7
Delettre, C.8
Valette, A.9
Hamel, C.P.10
-
19
-
-
0037427529
-
Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria
-
Satoh M., Hamamoto T., Seo N., Kagawa Y., and Endo H. Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria. Biochem Biophys Res Commun 300 (2003) 482-493
-
(2003)
Biochem Biophys Res Commun
, vol.300
, pp. 482-493
-
-
Satoh, M.1
Hamamoto, T.2
Seo, N.3
Kagawa, Y.4
Endo, H.5
-
20
-
-
6344274848
-
Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis
-
Lee Y.J., Jeong S.Y., Karbowski M., Smith C.L., and Youle R.J. Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. Mol Biol Cell 15 (2004) 5001-5011
-
(2004)
Mol Biol Cell
, vol.15
, pp. 5001-5011
-
-
Lee, Y.J.1
Jeong, S.Y.2
Karbowski, M.3
Smith, C.L.4
Youle, R.J.5
-
21
-
-
0035166814
-
Dynamin-related protein drp1 is required for mitochondrial division in mammalian cells
-
Smirnova E., Griparic L., Shurland D.L., and van Der Bliek A.M. Dynamin-related protein drp1 is required for mitochondrial division in mammalian cells. Mol Biol Cell 12 (2001) 2245-2256
-
(2001)
Mol Biol Cell
, vol.12
, pp. 2245-2256
-
-
Smirnova, E.1
Griparic, L.2
Shurland, D.L.3
van Der Bliek, A.M.4
-
22
-
-
2142758117
-
Mitochondrial dynamics in mammals
-
Chen H., and Chan D.C. Mitochondrial dynamics in mammals. Curr Top Dev Biol 59 (2004) 119-144
-
(2004)
Curr Top Dev Biol
, vol.59
, pp. 119-144
-
-
Chen, H.1
Chan, D.C.2
-
24
-
-
0037424239
-
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
-
Olichon A., Baricault L., Gas N., Guillou E., Valette A., Belenguer P., and Lenaers G. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 278 (2003) 7743-7746
-
(2003)
J Biol Chem
, vol.278
, pp. 7743-7746
-
-
Olichon, A.1
Baricault, L.2
Gas, N.3
Guillou, E.4
Valette, A.5
Belenguer, P.6
Lenaers, G.7
-
25
-
-
10644296253
-
Fzo1, a protein involved in mitochondrial fusion, inhibits apoptosis
-
Sugioka R., Shimizu S., and Tsujimoto Y. Fzo1, a protein involved in mitochondrial fusion, inhibits apoptosis. J Biol Chem 279 (2004) 52726-52734
-
(2004)
J Biol Chem
, vol.279
, pp. 52726-52734
-
-
Sugioka, R.1
Shimizu, S.2
Tsujimoto, Y.3
-
26
-
-
19944425973
-
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A
-
Kijima K., Numakura C., Izumino H., Umetsu K., Nezu A., Shiiki T., Ogawa M., Ishizaki Y., Kitamura T., Shozawa Y., et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet 116 (2005) 23-27
-
(2005)
Hum Genet
, vol.116
, pp. 23-27
-
-
Kijima, K.1
Numakura, C.2
Izumino, H.3
Umetsu, K.4
Nezu, A.5
Shiiki, T.6
Ogawa, M.7
Ishizaki, Y.8
Kitamura, T.9
Shozawa, Y.10
-
27
-
-
22544465572
-
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
-
Lawson V.H., Graham B.V., and Flanigan K.M. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 65 (2005) 197-204
-
(2005)
Neurology
, vol.65
, pp. 197-204
-
-
Lawson, V.H.1
Graham, B.V.2
Flanigan, K.M.3
-
28
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
This genetic study provided the original identification of Mfn2 as the predominant gene causing CMT2A.
-
Zuchner S., Mersiyanova I.V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E.L., Zappia M., Nelis E., Patitucci A., Senderek J., et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36 (2004) 449-451. This genetic study provided the original identification of Mfn2 as the predominant gene causing CMT2A.
-
(2004)
Nat Genet
, vol.36
, pp. 449-451
-
-
Zuchner, 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
-
29
-
-
6944246275
-
Charcot-Marie-Tooth disease: an update
-
Shy M.E. Charcot-Marie-Tooth disease: an update. Curr Opin Neurol 17 (2004) 579-585
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 579-585
-
-
Shy, M.E.1
-
30
-
-
0346100497
-
The causes of Charcot-Marie-Tooth disease
-
Young P., and Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci 60 (2003) 2547-2560
-
(2003)
Cell Mol Life Sci
, vol.60
, pp. 2547-2560
-
-
Young, P.1
Suter, U.2
-
31
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
Zuchner S., De Jonghe P., Jordanova A., Claeys K.G., Guergueltcheva V., Cherninkova S., Hamilton S.R., Van Stavern G., Krajewski K.M., Stajich J., et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 59 (2006) 276-281
-
(2006)
Ann Neurol
, vol.59
, pp. 276-281
-
-
Zuchner, S.1
De Jonghe, P.2
Jordanova, A.3
Claeys, K.G.4
Guergueltcheva, V.5
Cherninkova, S.6
Hamilton, S.R.7
Van Stavern, G.8
Krajewski, K.M.9
Stajich, J.10
-
32
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter R.V., Ben Othmane K., Rochelle J.M., Stajich J.E., Hulette C., Dew-Knight S., Hentati F., Ben Hamida M., Bel S., Stenger J.E., et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30 (2002) 21-22
-
(2002)
Nat Genet
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
Stajich, J.E.4
Hulette, C.5
Dew-Knight, S.6
Hentati, F.7
Ben Hamida, M.8
Bel, S.9
Stenger, J.E.10
-
33
-
-
18544388962
-
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
-
Cuesta A., Pedrola L., Sevilla T., Garcia-Planells J., Chumillas M.J., Mayordomo F., LeGuern E., Marin I., Vilchez J.J., and Palau F. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30 (2002) 22-25
-
(2002)
Nat Genet
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
Garcia-Planells, J.4
Chumillas, M.J.5
Mayordomo, F.6
LeGuern, E.7
Marin, I.8
Vilchez, J.J.9
Palau, F.10
-
34
-
-
25444514731
-
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease
-
GDAP1, a gene mutated in CMT4A, influences mitochondrial fission. Therefore, yet another neurodegenerative disease may have a primary defect in mitochondrial dynamics.
-
Niemann A., Ruegg M., La Padula V., Schenone A., and Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 170 (2005) 1067-1078. GDAP1, a gene mutated in CMT4A, influences mitochondrial fission. Therefore, yet another neurodegenerative disease may have a primary defect in mitochondrial dynamics.
-
(2005)
J Cell Biol
, vol.170
, pp. 1067-1078
-
-
Niemann, A.1
Ruegg, M.2
La Padula, V.3
Schenone, A.4
Suter, U.5
-
35
-
-
0036369531
-
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease
-
Delettre C., Lenaers G., Pelloquin L., Belenguer P., and Hamel C.P. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 75 (2002) 97-107
-
(2002)
Mol Genet Metab
, vol.75
, pp. 97-107
-
-
Delettre, C.1
Lenaers, G.2
Pelloquin, L.3
Belenguer, P.4
Hamel, C.P.5
-
36
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C., Votruba M., Pesch U.E., Thiselton D.L., Mayer S., Moore A., Rodriguez M., Kellner U., Leo-Kottler B., Auburger G., et al. 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
-
37
-
-
26244441704
-
A third locus for dominant optic atrophy on chromosome 22q
-
Barbet F., Hakiki S., Orssaud C., Gerber S., Perrault I., Hanein S., Ducroq D., Dufier J.L., Munnich A., Kaplan J., et al. A third locus for dominant optic atrophy on chromosome 22q. J Med Genet 42 (2005) e1
-
(2005)
J Med Genet
, vol.42
-
-
Barbet, F.1
Hakiki, S.2
Orssaud, C.3
Gerber, S.4
Perrault, I.5
Hanein, S.6
Ducroq, D.7
Dufier, J.L.8
Munnich, A.9
Kaplan, J.10
-
38
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C., Lenaers G., Griffoin J.M., Gigarel N., Lorenzo C., Belenguer P., Pelloquin L., Grosgeorge J., Turc-Carel C., Perret E., et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26 (2000) 207-210
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
Pelloquin, L.7
Grosgeorge, J.8
Turc-Carel, C.9
Perret, E.10
-
39
-
-
0033028406
-
Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3
-
Kerrison J.B., Arnould V.J., Ferraz Sallum J.M., Vagefi M.R., Barmada M.M., Li Y., Zhu D., and Maumenee I.H. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol 117 (1999) 805-810
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 805-810
-
-
Kerrison, J.B.1
Arnould, V.J.2
Ferraz Sallum, J.M.3
Vagefi, M.R.4
Barmada, M.M.5
Li, Y.6
Zhu, D.7
Maumenee, I.H.8
-
40
-
-
27744441594
-
eOPA1: an online database for OPA1 mutations
-
Ferre M., Amati-Bonneau P., Tourmen Y., Malthiery Y., and Reynier P. eOPA1: an online database for OPA1 mutations. Hum Mutat 25 (2005) 423-428
-
(2005)
Hum Mutat
, vol.25
, pp. 423-428
-
-
Ferre, M.1
Amati-Bonneau, P.2
Tourmen, Y.3
Malthiery, Y.4
Reynier, P.5
-
41
-
-
0036676330
-
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
-
Marchbank N.J., Craig J.E., Leek J.P., Toohey M., Churchill A.J., Markham A.F., Mackey D.A., Toomes C., and Inglehearn C.F. Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet 39 (2002) e47
-
(2002)
J Med Genet
, vol.39
-
-
Marchbank, N.J.1
Craig, J.E.2
Leek, J.P.3
Toohey, M.4
Churchill, A.J.5
Markham, A.F.6
Mackey, D.A.7
Toomes, C.8
Inglehearn, C.F.9
-
42
-
-
33644667634
-
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network
-
Kamei S., Chen-Kuo-Chang M., Cazevieille C., Lenaers G., Olichon A., Belenguer P., Roussignol G., Renard N., Eybalin M., Michelin A., et al. Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network. Invest Ophthalmol Vis Sci 46 (2005) 4288-4294
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 4288-4294
-
-
Kamei, S.1
Chen-Kuo-Chang, M.2
Cazevieille, C.3
Lenaers, G.4
Olichon, A.5
Belenguer, P.6
Roussignol, G.7
Renard, N.8
Eybalin, M.9
Michelin, A.10
-
43
-
-
9144238312
-
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
-
Lodi R., Tonon C., Valentino M.L., Iotti S., Clementi V., Malucelli E., Barboni P., Longanesi L., Schimpf S., Wissinger B., et al. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol 56 (2004) 719-723
-
(2004)
Ann Neurol
, vol.56
, pp. 719-723
-
-
Lodi, R.1
Tonon, C.2
Valentino, M.L.3
Iotti, S.4
Clementi, V.5
Malucelli, E.6
Barboni, P.7
Longanesi, L.8
Schimpf, S.9
Wissinger, B.10
-
44
-
-
15244364005
-
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy
-
Kim J.Y., Hwang J.M., Ko H.S., Seong M.W., Park B.J., and Park S.S. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology 64 (2005) 966-972
-
(2005)
Neurology
, vol.64
, pp. 966-972
-
-
Kim, J.Y.1
Hwang, J.M.2
Ko, H.S.3
Seong, M.W.4
Park, B.J.5
Park, S.S.6
-
45
-
-
7544246760
-
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1
-
Payne M., Yang Z., Katz B.J., Warner J.E., Weight C.J., Zhao Y., Pearson E.D., Treft R.L., Hillman T., Kennedy R.J., et al. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138 (2004) 749-755
-
(2004)
Am J Ophthalmol
, vol.138
, pp. 749-755
-
-
Payne, M.1
Yang, Z.2
Katz, B.J.3
Warner, J.E.4
Weight, C.J.5
Zhao, Y.6
Pearson, E.D.7
Treft, R.L.8
Hillman, T.9
Kennedy, R.J.10
-
46
-
-
0035205389
-
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
-
Anikster Y., Kleta R., Shaag A., Gahl W.A., and Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69 (2001) 1218-1224
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1218-1224
-
-
Anikster, Y.1
Kleta, R.2
Shaag, A.3
Gahl, W.A.4
Elpeleg, O.5
-
47
-
-
0842281697
-
Mitochondrial dysfunction as a cause of optic neuropathies
-
The relationship between mitochondria and optic neuropathy is explored in this review, with emphasis on basic biology, LHON and DOA, animal models, and possible therapies.
-
Carelli V., Ross-Cisneros F.N., and Sadun A.A. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 23 (2004) 53-89. The relationship between mitochondria and optic neuropathy is explored in this review, with emphasis on basic biology, LHON and DOA, animal models, and possible therapies.
-
(2004)
Prog Retin Eye Res
, vol.23
, pp. 53-89
-
-
Carelli, V.1
Ross-Cisneros, F.N.2
Sadun, A.A.3
-
48
-
-
0027371282
-
Axoplasmic organelles at nodes of Ranvier. II. Occurrence and distribution in large myelinated spinal cord axons of the adult cat
-
Fabricius C., Berthold C.H., and Rydmark M. Axoplasmic organelles at nodes of Ranvier. II. Occurrence and distribution in large myelinated spinal cord axons of the adult cat. J Neurocytol 22 (1993) 941-954
-
(1993)
J Neurocytol
, vol.22
, pp. 941-954
-
-
Fabricius, C.1
Berthold, C.H.2
Rydmark, M.3
-
49
-
-
5444276493
-
Mitochondrial accumulation in the distal part of the initial segment of chicken spinal motoneurons
-
Li Y.C., Zhai X.Y., Ohsato K., Futamata H., Shimada O., and Atsumi S. Mitochondrial accumulation in the distal part of the initial segment of chicken spinal motoneurons. Brain Res 1026 (2004) 235-243
-
(2004)
Brain Res
, vol.1026
, pp. 235-243
-
-
Li, Y.C.1
Zhai, X.Y.2
Ohsato, K.3
Futamata, H.4
Shimada, O.5
Atsumi, S.6
-
50
-
-
0022349766
-
Localization of sodium/potassium adenosine triphosphatase in multiple cell types of the murine nervous system with antibodies raised against the enzyme from kidney
-
Ariyasu R.G., Nichol J.A., and Ellisman M.H. Localization of sodium/potassium adenosine triphosphatase in multiple cell types of the murine nervous system with antibodies raised against the enzyme from kidney. J Neurosci 5 (1985) 2581-2596
-
(1985)
J Neurosci
, vol.5
, pp. 2581-2596
-
-
Ariyasu, R.G.1
Nichol, J.A.2
Ellisman, M.H.3
-
51
-
-
0031822283
-
Focal accumulation of intra-axonal mitochondria in demyelination of the cat optic nerve
-
Mutsaers S.E., and Carroll W.M. Focal accumulation of intra-axonal mitochondria in demyelination of the cat optic nerve. Acta Neuropathol (Berl) 96 (1998) 139-143
-
(1998)
Acta Neuropathol (Berl)
, vol.96
, pp. 139-143
-
-
Mutsaers, S.E.1
Carroll, W.M.2
-
52
-
-
27544466847
-
Mitochondrial morphology and dynamics in yeast and multicellular eukaryotes
-
Okamoto K., and Shaw J.M. Mitochondrial morphology and dynamics in yeast and multicellular eukaryotes. Annu Rev Genet 39 (2005) 503-536
-
(2005)
Annu Rev Genet
, vol.39
, pp. 503-536
-
-
Okamoto, K.1
Shaw, J.M.2
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