-
1
-
-
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: 207-10.
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
-
2
-
-
0033772264
-
OPA1, encoding a dynaminrelated GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynaminrelated GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Mat Genet 2000 ; 26: 211-5.
-
(2000)
Mat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
-
3
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36:449-51.
-
(2004)
Nat Genet
, vol.36
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
-
4
-
-
34247525092
-
A lethal defect of mitochondrial and peroxisomal fission
-
Waterham HR, Koster J, Van Roermund CW, et al. A lethal defect of mitochondrial and peroxisomal fission. N Cng) Med 2007 ; 356:1736-41.
-
(2007)
N Cng Med
, vol.356
, pp. 1736-1741
-
-
Waterham, H.R.1
Koster, J.2
Van Roermund, C.W.3
-
5
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiation-associated protein1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002 ; 30:21-2.
-
(2002)
Nat Genet
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
-
6
-
-
20244374986
-
Genetics of Charcot-Marie-Tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
-
Claramunt R, Pedrala L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005 ; 42:358-65.
-
(2005)
J Med Genet
, vol.42
, pp. 358-365
-
-
Claramunt, R.1
Pedrala, L.2
Sevilla, T.3
-
7
-
-
84924064715
-
Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families
-
Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol 1959 ; 164 (suppl 54) : 1-147.
-
(1959)
Acta Ophthalmol
, vol.164
, Issue.SUPPL. 54
, pp. 1-147
-
-
Kjer, P.1
-
8
-
-
77951744590
-
Axonal loss occurs early in dominant optic atrophy
-
Milea D, Sander B, Wegener M, et al. Axonal loss occurs early in dominant optic atrophy. Acta Ophthalmol 2010; 88: 342-6.
-
(2010)
Acta Ophthalmol
, vol.88
, pp. 342-346
-
-
Milea, D.1
Sander, B.2
Wegener, M.3
-
9
-
-
77950244975
-
Multi-system neurological disease is common in patients with OPA1 mutations
-
Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010 ; 133: 771-86.
-
(2010)
Brain
, vol.133
, pp. 771-786
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Gorman, G.S.3
-
10
-
-
68949089961
-
OPAl functions in mitochondria and dysfunctions in optic nerve
-
Lenaers G, Reynier P, El Achoun G, et al. OPAl functions in mitochondria and dysfunctions in optic nerve. Int; Biochem Cell Biol 2009 ; 41:1866-74.
-
(2009)
Int; Biochem Cell Biol
, vol.41
, pp. 1866-1874
-
-
Lenaers, G.1
Reynier, P.2
El Achoun, G.3
-
11
-
-
27744441594
-
OPA1: An online database for OPAl mutations
-
Ferré M, Amati-Bonneau P, Tourmen Y, et al. OPA1: an online database for OPAl mutations. Hum Mutât r 2005;25:423-8.
-
(2005)
Hum Mutât R
, vol.25
, pp. 423-428
-
-
Ferré, M.1
Amati-Bonneau, P.2
Tourmen, Y.3
-
12
-
-
78149258770
-
Mitochondrial morphology and dynamics: Actors, mecanisms and functions
-
Sauvanet C, Arnauné-Pelloquin L, David C, et al. Mitochondrial morphology and dynamics: actors, mecanisms and functions. Med Sci (Paris) 2010 ; 26:823-9.
-
(2010)
Med Sci (Paris)
, vol.26
, pp. 823-829
-
-
Sauvanet, C.1
Arnauné-Pelloquin, L.2
David, C.3
-
13
-
-
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: 794-8.
-
(2008)
Ann Neurol
, vol.63
, pp. 794-798
-
-
Chevrollier, A.1
Guillet, V.2
Loiseau, D.3
-
14
-
-
38849190029
-
OPAl mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
-
Zanna C, Ghelli A, Porcelli AM, et al. OPAl mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain 2008 ; 131: 352-67.
-
(2008)
Brain
, vol.131
, pp. 352-367
-
-
Zanna, C.1
Ghelli, A.2
Porcelli, A.M.3
-
15
-
-
38849192448
-
OPAl mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
-
Amati-Bonneau P, Valentino ML, Reynier P, et al. OPAl mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes. Bram 2008 ; 131: 338-51.
-
(2008)
Bram
, vol.131
, pp. 338-351
-
-
Amati-Bonneau, P.1
Valentino, M.L.2
Reynier, P.3
-
16
-
-
77749307313
-
Instabilité du génome mitochondrial et pathologies associées
-
Sarzi E, Rotig A. Instabilité du génome mitochondrial et pathologies associées. Med Sci (Paris) 2010 ; 26:171-6.
-
(2010)
Med Sci (Paris)
, vol.26
, pp. 171-176
-
-
Sarzi, E.1
Rotig, A.2
-
17
-
-
34249693479
-
A splice site mutation in the murine OPAl gene features pathology of autosomal dominant optic atrophy
-
Alavi MV, Bette S, Schimpf S, et al. A splice site mutation in the murine OPAl gene features pathology of autosomal dominant optic atrophy. Brain 2007 ; 130:1029-42.
-
(2007)
Brain
, vol.130
, pp. 1029-1042
-
-
Alavi, M.V.1
Bette, S.2
Schimpf, S.3
-
18
-
-
34447314190
-
OPAl deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function
-
Davies VJ, Hollins AJ, Piechota MJ, et al. OPAl deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Hum Mol Genet 2007; 16:1307-18.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1307-1318
-
-
Davies, V.J.1
Hollins, A.J.2
Piechota, M.J.3
-
19
-
-
0002896804
-
Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains
-
Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886 ; 6:97-138.
-
(1886)
Rev Med
, vol.6
, pp. 97-138
-
-
Charcot, J.M.1
Marie, P.2
-
21
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
Zuchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006 ; 59: 276-81.
-
(2006)
Ann Neurol
, vol.59
, pp. 276-281
-
-
Zuchner, S.1
De Jonghe, P.2
Jordanova, A.3
-
22
-
-
67649803117
-
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A
-
Cartoni R, Martinou JC. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. txp Neurol 2009 ; 218: 268-73.
-
(2009)
Txp Neurol
, vol.218
, pp. 268-273
-
-
Cartoni, R.1
Martinou, J.C.2
-
23
-
-
58149241066
-
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations
-
Vallat JM, Ouvrier RA, Pollard JD, et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Cxp Neurol 2008 ; 67:1097-102.
-
(2008)
J Neuropathol Cxp Neurol
, vol.67
, pp. 1097-1102
-
-
Vallat, J.M.1
Ouvrier, R.A.2
Pollard, J.D.3
-
24
-
-
77951896551
-
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A
-
Cartoni R, Arnaud E, Médard JJ, et al. Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. Brain 2010 ; 133:1460-9.
-
(2010)
Brain
, vol.133
, pp. 1460-1469
-
-
Cartoni, R.1
Arnaud, E.2
Médard, J.J.3
-
25
-
-
77949801029
-
Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex
-
Misko A, Jiang S, Wegorzewska I, et al. Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. J Neurosci 2010 ; 30:4232-40.
-
(2010)
J Neurosci
, vol.30
, pp. 4232-4240
-
-
Misko, A.1
Jiang, S.2
Wegorzewska, I.3
-
26
-
-
34247638936
-
Mitochondrial Coupling Defect in Charcot-Marie-Tooth Type 2A disease
-
Loiseau D, Chevrollier A, Verny C, et al. Mitochondrial Coupling Defect in Charcot-Marie-Tooth Type 2A disease. Ann Neurol 2007 ; 61: 315-23.
-
(2007)
Ann Neurol
, vol.61
, pp. 315-323
-
-
Loiseau, D.1
Chevrollier, A.2
Verny, C.3
-
27
-
-
77951737783
-
Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations
-
Chen H, Vermulst M, Wang YE, et al. Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Cell 2010 ; 141: 280-9.
-
(2010)
Cell
, vol.141
, pp. 280-289
-
-
Chen, H.1
Vermulst, M.2
Wang, Y.E.3
-
28
-
-
25444514731
-
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease
-
Niemann A, Ruegg M, La Padula V, et al. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 2005; 170:1067-78.
-
(2005)
J Cell Biol
, vol.170
, pp. 1067-1078
-
-
Niemann, A.1
Ruegg, M.2
La Padula, V.3
-
29
-
-
64149125383
-
Mitochondrial complex i deficiency in GDAPl-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
-
Cassereau J, Chevrollier A, Gueguen N, et al. Mitochondrial complex I deficiency in GDAPl-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 2009 ; 10:145-50.
-
(2009)
Neurogenetics
, vol.10
, pp. 145-150
-
-
Cassereau, J.1
Chevrollier, A.2
Gueguen, N.3
-
30
-
-
77951199668
-
Decreased expression of Drpl and Fisl mediates mitochondrial elongation in senescent cells and enhances resistance to oxidative stress through PINKl
-
Mai S, Klinkenberg M, Auburger G, et at. Decreased expression of Drpl and Fisl mediates mitochondrial elongation in senescent cells and enhances resistance to oxidative stress through PINKl. J Cell Sci 2010;123:917-26.
-
(2010)
J Cell Sci
, vol.123
, pp. 917-926
-
-
Mai, S.1
Klinkenberg, M.2
Auburger, G.3
-
31
-
-
44349195101
-
Pinkl regulates mitochondrial dynamics throught interaction with the fission/fusion machinery
-
Yang Y, Ouyang Y, Yang L, et al. Pinkl regulates mitochondrial dynamics throught interaction with the fission/fusion machinery. Proc Natl Acad Sci USA 2008 ; 105: 7070-5.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 7070-7075
-
-
Yang, Y.1
Ouyang, Y.2
Yang, L.3
-
32
-
-
77950384477
-
Drosophila Parkin requires PINKl for mitochondrial translocation and ubiquinates mitofusin. Proc
-
Ziviani E, Tao RN, Whitworth AJ. Drosophila Parkin requires PINKl for mitochondrial translocation and ubiquinates mitofusin. Proc Natl Acad Sci USA 2010 ; 107: 5018-23.
-
(2010)
Natl Acad Sci USA
, vol.107
, pp. 5018-5023
-
-
Ziviani, E.1
Tao, R.N.2
Whitworth, A.J.3
-
33
-
-
58049218922
-
Amyloid beta overproduction causes abnormal mitochondrial dynamics via differential modulation of mitochondrial fission/fusion proteins
-
Wang X, Su B, Siedlak SL, et al. Amyloid beta overproduction causes abnormal mitochondrial dynamics via differential modulation of mitochondrial fission/fusion proteins. Proc Natl Acad Sci USA 2008 ; 105:19318-23.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 19318-19323
-
-
Wang, X.1
Su, B.2
Siedlak, S.L.3
-
34
-
-
58949099388
-
Effects of overexpression of Huntington proteins on mitochondrial integrity
-
Wang H, Lim PJ, Karbowski M, Monteiro MJ. Effects of overexpression of Huntington proteins on mitochondrial integrity. Hum Mol Genet 2008 ; 18: 737-52.
-
(2008)
Hum Mol Genet
, vol.18
, pp. 737-752
-
-
Wang, H.1
Lim, P.J.2
Karbowski, M.3
Monteiro, M.J.4
-
35
-
-
42749087763
-
The mitochondrial impairment, oxidative stress and neurodegeneration connection: Reality or just an attractive hypothesis?
-
Fukui H, Moraes CT. The mitochondrial impairment, oxidative stress and neurodegeneration connection: reality or just an attractive hypothesis? Trends Neurosci 2008 ; 31: 251-6.
-
(2008)
Trends Neurosci
, vol.31
, pp. 251-256
-
-
Fukui, H.1
Moraes, C.T.2
-
36
-
-
78149268333
-
La maladie de Charcot-Marie-Tooth
-
Vallat JM, Funalot B. La maladie de Charcot-Marie-Tooth. Med Sci (Paris) 2010 ; 26:842-7.
-
(2010)
Med Sci (Paris)
, vol.26
, pp. 842-847
-
-
Vallat, J.M.1
Funalot, B.2
|