-
1
-
-
0037235396
-
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
-
Votruba M, Thiselton D, Bhattacharya SS. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol 2003;87:48-53.
-
(2003)
Br J Ophthalmol
, vol.87
, pp. 48-53
-
-
Votruba, M.1
Thiselton, D.2
Bhattacharya, S.S.3
-
3
-
-
0020691778
-
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy
-
Kjer P, Jensen OA, Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol 1983;61: 300-312.
-
(1983)
Acta Ophthalmol
, vol.61
, pp. 300-312
-
-
Kjer, P.1
Jensen, O.A.2
Klinken, L.3
-
4
-
-
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
-
5
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin JM, 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.M.3
-
6
-
-
0035683581
-
Mutation spectrum and splicing variants in the OPA1 gene
-
Delettre C, Griffoin JM, Kaplan J, et al. Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet 2001;109:584-591.
-
(2001)
Hum Genet
, vol.109
, pp. 584-591
-
-
Delettre, C.1
Griffoin, J.M.2
Kaplan, J.3
-
7
-
-
0035875085
-
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
-
Pesch UE, Leo-Kottler B, Mayer S, et al. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 2001;10:1359-1368.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1359-1368
-
-
Pesch, U.E.1
Leo-Kottler, B.2
Mayer, S.3
-
8
-
-
0035182161
-
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: Evidence for a founder effect
-
Thiselton DL, Alexander C, Morris A, et al. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Hum Genet 2001;109:498-502.
-
(2001)
Hum Genet
, vol.109
, pp. 498-502
-
-
Thiselton, D.L.1
Alexander, C.2
Morris, A.3
-
9
-
-
0035875096
-
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
-
Toomes C, Marchbank NJ, Mackey DA, et al. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet 2001;10:1369-1378.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1369-1378
-
-
Toomes, C.1
Marchbank, N.J.2
Mackey, D.A.3
-
10
-
-
0036268633
-
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
-
Thiselton DL, Alexander C, Taanman JW, et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci 2002;43:1715-1724.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1715-1724
-
-
Thiselton, D.L.1
Alexander, C.2
Taanman, J.W.3
-
11
-
-
1442307728
-
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
-
Baris O, Delettre C, Amati-Bonneau P, et al. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat 2003;21:656.
-
(2003)
Hum Mutat
, vol.21
, pp. 656
-
-
Baris, O.1
Delettre, C.2
Amati-Bonneau, P.3
-
12
-
-
0037307853
-
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy
-
Shimizu S, Mori N, Kishi M, et al. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. Am J Ophthalmol 2003;135: 256-257.
-
(2003)
Am J Ophthalmol
, vol.135
, pp. 256-257
-
-
Shimizu, S.1
Mori, N.2
Kishi, M.3
-
13
-
-
0038723230
-
OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484
-
Yamada T, Hayasaka S, Matsumoto M, et al. OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484. Jpn J Ophthalmol 2003;47:409-411.
-
(2003)
Jpn J Ophthalmol
, vol.47
, pp. 409-411
-
-
Yamada, T.1
Hayasaka, S.2
Matsumoto, M.3
-
14
-
-
0037125183
-
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
-
Olichon A, Emorine LJ, Descoins E, et al. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett 2002;523:171-176.
-
(2002)
FEBS Lett
, vol.523
, pp. 171-176
-
-
Olichon, A.1
Emorine, L.J.2
Descoins, E.3
-
15
-
-
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, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003;278:7743-7746.
-
(2003)
J Biol Chem
, vol.278
, pp. 7743-7746
-
-
Olichon, A.1
Baricault, L.2
Gas, N.3
-
16
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001;109:121-124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
17
-
-
0027431036
-
Age dependency of mitochondrial DNA decrease differs in different tissues of rat
-
Asano K, Nakamura M, Sato T, et al. Age dependency of mitochondrial DNA decrease differs in different tissues of rat. J Biochem 1993;114: 303-306.
-
(1993)
J Biochem
, vol.114
, pp. 303-306
-
-
Asano, K.1
Nakamura, M.2
Sato, T.3
-
18
-
-
0031574362
-
Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging
-
Barrientos A, Casademont J, Cardellach F, et al. Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging. Brain Res Mol Brain Res 1997;52:284-289.
-
(1997)
Brain Res Mol Brain Res
, vol.52
, pp. 284-289
-
-
Barrientos, A.1
Casademont, J.2
Cardellach, F.3
-
19
-
-
0034602958
-
Effects of aging on mitochondrial DNA copy number and cytochrome c oxidase gene expression in rat skeletal muscle, liver, and heart
-
Barazzoni R, Short KR, Nair KS. Effects of aging on mitochondrial DNA copy number and cytochrome c oxidase gene expression in rat skeletal muscle, liver, and heart. J Biol Chem 2000;275:3343-3347.
-
(2000)
J Biol Chem
, vol.275
, pp. 3343-3347
-
-
Barazzoni, R.1
Short, K.R.2
Nair, K.S.3
-
20
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
21
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987;15:7155-7174.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
23
-
-
0033031005
-
Use of real-time PCR and molecular beacons to detect virus replication in human immunodeficiency virus type 1-infected individuals on prolonged effective antiretroviral therapy
-
Lewin SR, Vesanen M, Kostrikis L, et al. Use of real-time PCR and molecular beacons to detect virus replication in human immunodeficiency virus type 1-infected individuals on prolonged effective antiretroviral therapy. J Virol 1999;73:6099-6103.
-
(1999)
J Virol
, vol.73
, pp. 6099-6103
-
-
Lewin, S.R.1
Vesanen, M.2
Kostrikis, L.3
-
25
-
-
4444270793
-
Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis
-
de Graaf AO, van den Heuvel LP, Dijkman HB, et al. Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis. Exp Cell Res 2004; 299:533-540.
-
(2004)
Exp Cell Res
, vol.299
, pp. 533-540
-
-
De Graaf, A.O.1
Van Den Heuvel, L.P.2
Dijkman, H.B.3
-
26
-
-
0001294889
-
Mitochondria and neuro-ophthalmologic diseases
-
Scrive CR, Beaudet AL, Sly WS, et al., eds. New York: McGraw-Hill
-
Wallace DC, Lott MT, Brown MD, Kerstann K. Mitochondria and neuro-ophthalmologic diseases. In: Scrive CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:2425-2509.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. 8th Ed.
, pp. 2425-2509
-
-
Wallace, D.C.1
Lott, M.T.2
Brown, M.D.3
Kerstann, K.4
-
27
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A, Shaag A, Mandel H, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29: 342-344.
-
(2001)
Nat Genet
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
-
28
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-441.
-
(2001)
Nat Genet
, vol.29
, pp. 337-441
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
-
29
-
-
3543029271
-
Mitochondrial diseases
-
DiMauro S. Mitochondrial diseases. Biochim Biophys Acta 2004;1658: 80-88.
-
(2004)
Biochim Biophys Acta
, vol.1658
, pp. 80-88
-
-
DiMauro, S.1
-
30
-
-
0014982411
-
Dependence of fast axoplasmic transport in nerve on oxidative metabolism
-
Ochs S, Hollingsworth D. Dependence of fast axoplasmic transport in nerve on oxidative metabolism. J Neurochem 1971;18:107-114.
-
(1971)
J Neurochem
, vol.18
, pp. 107-114
-
-
Ochs, S.1
Hollingsworth, D.2
-
31
-
-
0015460530
-
Relation of ATP and creatine phosphate to fast axoplasmic transport in mammalian nerve
-
Sabri MI, Ochs S. Relation of ATP and creatine phosphate to fast axoplasmic transport in mammalian nerve. J Neurochem 1972;19: 2821-2828.
-
(1972)
J Neurochem
, vol.19
, pp. 2821-2828
-
-
Sabri, M.I.1
Ochs, S.2
-
32
-
-
0035083432
-
Alpha-tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation
-
Klivenyi P, Karg E, Rozsa C, et al. Alpha-tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation. J Neurol Neurosurg Psychiatry 2001;70:359-362.
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.70
, pp. 359-362
-
-
Klivenyi, P.1
Karg, E.2
Rozsa, C.3
-
33
-
-
0033609069
-
Mitochondrial disease in mouse results in increased oxidative stress
-
Esposito LA, Melov S, Panov A, Cottrell BA, Wallace DC. Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci USA 1999;96:4820-4825.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 4820-4825
-
-
Esposito, L.A.1
Melov, S.2
Panov, A.3
Cottrell, B.A.4
Wallace, D.C.5
-
34
-
-
0036676330
-
Deletion of the OPA1 gene in a dominant optic atrophy family: Evidence that haploinsufficiency is the cause of disease
-
Marchbank NJ, Craig JE, Leek JP, et al. Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet 2002;39:e47.
-
(2002)
J Med Genet
, vol.39
-
-
Marchbank, N.J.1
Craig, J.E.2
Leek, J.P.3
-
35
-
-
0033028406
-
Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3
-
Kerrison JB, Arnould VJ, Ferraz Sallum JM, et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol 1999;117:805-810.
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 805-810
-
-
Kerrison, J.B.1
Arnould, V.J.2
Ferraz Sallum, J.M.3
-
36
-
-
0742288598
-
The dynamin superfamily: Universal membrane tubulation and fission molecules?
-
Praefcke GJ, McMahon HT. The dynamin superfamily: universal membrane tubulation and fission molecules? Nat Rev Mol Cell Biol 2004;5: 133-147.
-
(2004)
Nat Rev Mol Cell Biol
, vol.5
, pp. 133-147
-
-
Praefcke, G.J.1
McMahon, H.T.2
-
37
-
-
0036369531
-
OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease
-
Delettre C, Lenaers G, Pelloquin L, et al. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 2002;75: 97-107.
-
(2002)
Mol Genet Metab
, vol.75
, pp. 97-107
-
-
Delettre, C.1
Lenaers, G.2
Pelloquin, L.3
|