-
1
-
-
0036252812
-
Molecular insights into Friedreich's ataxia and possible therapeutic approaches
-
A. Rötig, D. Sidi, A. Munnich, and P. Rustin Molecular insights into Friedreich's ataxia and possible therapeutic approaches Trends Mol. Med. 8 2002 221 224
-
(2002)
Trends Mol. Med.
, vol.8
, pp. 221-224
-
-
Rötig, A.1
Sidi, D.2
Munnich, A.3
Rustin, P.4
-
3
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Z. Zhu, J. Yao, T. Johns, K. Fu, I. De Bie, C. Macmillan, A.P. Cuthbert, R.F. Newbold, J. Wang, M. Chevrette, G.K. Brown, R.M. Brown, and E.A. Shoubridge SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome Nat. Genet. 20 1998 337 343
-
(1998)
Nat. Genet.
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
Fu, K.4
De Bie, I.5
MacMillan, C.6
Cuthbert, A.P.7
Newbold, R.F.8
Wang, J.9
Chevrette, M.10
Brown, G.K.11
Brown, R.M.12
Shoubridge, E.A.13
-
4
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
V. Tiranti, K. Hoertnagel, R. Carrozzo, C. Galimberti, M. Munaro, M. Granatiero, L. Zelante, P. Gasparini, R. Marzella, M. Rocchi, M.P. Bayona-Bafaluy, J.A. Enriquez, G. Uziel, E. Bertini, C. Dionisi-Vici, B. Franco, T. Meitinger, and M. Zeviani Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency Am. J. Hum. Genet. 63 1998 1609 1621
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
Galimberti, C.4
Munaro, M.5
Granatiero, M.6
Zelante, L.7
Gasparini, P.8
Marzella, R.9
Rocchi, M.10
Bayona-Bafaluy, M.P.11
Enriquez, J.A.12
Uziel, G.13
Bertini, E.14
Dionisi-Vici, C.15
Franco, B.16
Meitinger, T.17
Zeviani, M.18
-
5
-
-
0032699506
-
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
-
L.C. Papadopoulou, C.M. Sue, M.M. Davidson, K. Tanji, I. Nishino, J.E. Sadlock, S. Krishna, W. Walker, J. Selby, D.M. Glerum, R.V. Coster, G. Lyon, E. Scalais, R. Lebel, P. Kaplan, S. Shanske, D.C. De Vivo, E. Bonilla, M. Hirano, S. DiMauro, and E.A. Schon Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene Nat. Genet. 23 1999 333 337
-
(1999)
Nat. Genet.
, vol.23
, pp. 333-337
-
-
Papadopoulou, L.C.1
Sue, C.M.2
Davidson, M.M.3
Tanji, K.4
Nishino, I.5
Sadlock, J.E.6
Krishna, S.7
Walker, W.8
Selby, J.9
Glerum, D.M.10
Coster, R.V.11
Lyon, G.12
Scalais, E.13
Lebel, R.14
Kaplan, P.15
Shanske, S.16
De Vivo, D.C.17
Bonilla, E.18
Hirano, M.19
Dimauro, S.20
Schon, E.A.21
more..
-
6
-
-
0035101828
-
Mutations in SURF1 are not specifically associated with Leigh Syndrome
-
J.C. von Kleist-Retzow, J. Yao, J.W. Taanman, K. Chantrel, D. Chretien, V. Cormier-Daire, A. Rötig, A. Munnich, P. Rustin, and E.A. Shoubridge Mutations in SURF1 are not specifically associated with Leigh Syndrome J. Med. Genet. 38 2001 109 113
-
(2001)
J. Med. Genet.
, vol.38
, pp. 109-113
-
-
Von Kleist-Retzow, J.C.1
Yao, J.2
Taanman, J.W.3
Chantrel, K.4
Chretien, D.5
Cormier-Daire, V.6
Rötig, A.7
Munnich, A.8
Rustin, P.9
Shoubridge, E.A.10
-
7
-
-
0034840854
-
A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis
-
S.L. Williams, J.W. Taanman, H. Hansikova, H. Houst'kova, S. Chowdhury, J. Zeman, and J. Houstek A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis Mol. Genet. Metab. 73 2001 340 343
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 340-343
-
-
Williams, S.L.1
Taanman, J.W.2
Hansikova, H.3
Houst'Kova, H.4
Chowdhury, S.5
Zeman, J.6
Houstek, J.7
-
8
-
-
0032977683
-
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
-
M. Schuelke, J. Smeitink, E. Mariman, J. Loeffen, B. Plecko, F. Trijbels, S. Stockler-Ipsiroglu, and L. van den Heuvel Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy Nat. Genet. 21 1999 260 261
-
(1999)
Nat. Genet.
, vol.21
, pp. 260-261
-
-
Schuelke, M.1
Smeitink, J.2
Mariman, E.3
Loeffen, J.4
Plecko, B.5
Trijbels, F.6
Stockler-Ipsiroglu, S.7
Van Den Heuvel, L.8
-
9
-
-
0037337347
-
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
-
M. Chol, S. Lebon, P. Benit, D. Chretien, P. de Lonlay, A. Goldenberg, S. Odent, L. Hertz-Pannier, C. Vincent-Delorme, V. Cormier-Daire, P. Rustin, A. Rötig, and A. Munnich The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency J. Med. Genet. 40 2003 188 191
-
(2003)
J. Med. Genet.
, vol.40
, pp. 188-191
-
-
Chol, M.1
Lebon, S.2
Benit, P.3
Chretien, D.4
De Lonlay, P.5
Goldenberg, A.6
Odent, S.7
Hertz-Pannier, L.8
Vincent-Delorme, C.9
Cormier-Daire, V.10
Rustin, P.11
Rötig, A.12
Munnich, A.13
-
10
-
-
9144223005
-
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
-
S. Lebon, M. Chol, P. Benit, C. Mugnier, D. Chretien, I. Giurgea, I. Kern, E. Girardin, L. Hertz-Pannier, P. de Lonlay, A. Rötig, P. Rustin, and A. Munnich Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency J. Med. Genet. 40 2003 869 896
-
(2003)
J. Med. Genet.
, vol.40
, pp. 869-896
-
-
Lebon, S.1
Chol, M.2
Benit, P.3
Mugnier, C.4
Chretien, D.5
Giurgea, I.6
Kern, I.7
Girardin, E.8
Hertz-Pannier, L.9
De Lonlay, P.10
Rötig, A.11
Rustin, P.12
Munnich, A.13
-
11
-
-
0034988212
-
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
-
P. Benit, D. Chretien, N. Kadhom, P. de Lonlay-Debeney, V. Cormier-Daire, A. Cabral, S. Peudenier, P. Rustin, A. Munnich, and A. Rötig Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency Am. J. Hum. Genet. 68 2001 1344 1352
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1344-1352
-
-
Benit, P.1
Chretien, D.2
Kadhom, N.3
De Lonlay-Debeney, P.4
Cormier-Daire, V.5
Cabral, A.6
Peudenier, S.7
Rustin, P.8
Munnich, A.9
Rötig, A.10
-
12
-
-
0037903268
-
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
-
P. Benit, R. Beugnot, D. Chretien, I. Giurgea, P. De Lonlay-Debeney, J.P. Issartel, M. Corral-Debrinski, S. Kerscher, P. Rustin, A. Rötig, and A. Munnich Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy Hum. Mutat. 21 2003 582 586
-
(2003)
Hum. Mutat.
, vol.21
, pp. 582-586
-
-
Benit, P.1
Beugnot, R.2
Chretien, D.3
Giurgea, I.4
De Lonlay-Debeney, P.5
Issartel, J.P.6
Corral-Debrinski, M.7
Kerscher, S.8
Rustin, P.9
Rötig, A.10
Munnich, A.11
-
13
-
-
0942288076
-
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
-
S.M. Budde, L.P. van den Heuvel, R.J. Smeets, D. Skladal, J.A. Mayr, C. Boelen, V. Petruzzella, S. Papa, and J.A. Smeitink Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I J. Inherit. Metab. Dis. 26 2003 813 815
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 813-815
-
-
Budde, S.M.1
Van Den Heuvel, L.P.2
Smeets, R.J.3
Skladal, D.4
Mayr, J.A.5
Boelen, C.6
Petruzzella, V.7
Papa, S.8
Smeitink, J.A.9
-
14
-
-
0035039888
-
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency
-
M.O. Pequignot, R. Dey, M. Zeviani, V. Tiranti, C. Godinot, A. Poyau, C. Sue, S. Di Mauro, M. Abitbol, and C. Marsac Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency Hum. Mutat. 17 2001 374 381
-
(2001)
Hum. Mutat.
, vol.17
, pp. 374-381
-
-
Pequignot, M.O.1
Dey, R.2
Zeviani, M.3
Tiranti, V.4
Godinot, C.5
Poyau, A.6
Sue, C.7
Di Mauro, S.8
Abitbol, M.9
Marsac, C.10
-
15
-
-
0034192365
-
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
-
I. Valnot, J.C. von Kleist-Retzow, A. Barrientos, M. Gorbatyuk, J.W. Taanman, B. Mehaye, P. Rustin, A. Tzagoloff, A. Munnich, and A. Rötig A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency Hum. Mol. Genet. 9 2000 1245 1249
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1245-1249
-
-
Valnot, I.1
Von Kleist-Retzow, J.C.2
Barrientos, A.3
Gorbatyuk, M.4
Taanman, J.W.5
Mehaye, B.6
Rustin, P.7
Tzagoloff, A.8
Munnich, A.9
Rötig, A.10
-
16
-
-
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
-
17
-
-
0033754154
-
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy
-
I. Valnot, S. Osmond, N. Gigarel, B. Mehaye, J. Amiel, V. Cormier-Daire, A. Munnich, J.P. Bonnefont, P. Rustin, and A. Rötig Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy Am. J. Hum. Genet. 67 2000 1104 1109
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1104-1109
-
-
Valnot, I.1
Osmond, S.2
Gigarel, N.3
Mehaye, B.4
Amiel, J.5
Cormier-Daire, V.6
Munnich, A.7
Bonnefont, J.P.8
Rustin, P.9
Rötig, A.10
-
18
-
-
0037221950
-
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
H. Antonicka, A. Mattman, C.G. Carlson, D.M. Glerum, K.C. Hoffbuhr, S.C. Leary, N.G. Kennaway, and E.A. Shoubridge Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy Am. J. Hum. Genet. 72 2003 101 114
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 101-114
-
-
Antonicka, H.1
Mattman, A.2
Carlson, C.G.3
Glerum, D.M.4
Hoffbuhr, K.C.5
Leary, S.C.6
Kennaway, N.G.7
Shoubridge, E.A.8
-
19
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
V.K. Mootha, P. Lepage, K. Miller, J. Bunkenborg, M. Reich, M. Hjerrild, T. Delmonte, A. Villeneuve, R. Sladek, F. Xu, G.A. Mitchell, C. Morin, M. Mann, T.J. Hudson, B. Robinson, J.D. Rioux, and E.S. Lander Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics Proc. Natl. Acad. Sci. U. S. A. 100 2003 605 610
-
(2003)
Proc. Natl. Acad. Sci. U. S. A.
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
Lepage, P.2
Miller, K.3
Bunkenborg, J.4
Reich, M.5
Hjerrild, M.6
Delmonte, T.7
Villeneuve, A.8
Sladek, R.9
Xu, F.10
Mitchell, G.A.11
Morin, C.12
Mann, M.13
Hudson, T.J.14
Robinson, B.15
Rioux, J.D.16
Lander, E.S.17
-
20
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
G. Van Goethem, B. Dermaut, A. Lofgren, J.J. Martin, and C. Van Broeckhoven Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nat. Genet. 28 2001 211 212
-
(2001)
Nat. Genet.
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
21
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
J. Kaukonen, J.K. Juselius, V. Tiranti, A. Kyttala, M. Zeviani, G.P. Comi, S. Keranen, L. Peltonen, and A. Suomalainen Role of adenine nucleotide translocator 1 in mtDNA maintenance Science 289 2000 782 785
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
Keranen, S.7
Peltonen, L.8
Suomalainen, A.9
-
22
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
J.N. Spelbrink, F.Y. Li, V. Tiranti, K. Nikali, Q.P. Yuan, M. Tariq, S. Wanrooij, N. Garrido, G. Comi, L. Morandi, L. Santoro, A. Toscano, G.M. Fabrizi, H. Somer, R. Croxen, D. Beeson, J. Poulton, A. Suomalainen, H.T. Jacobs, M. Zeviani, and C. Larsson Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria Nat. Genet. 28 2001 223 231
-
(2001)
Nat. Genet.
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
Wanrooij, S.7
Garrido, N.8
Comi, G.9
Morandi, L.10
Santoro, L.11
Toscano, A.12
Fabrizi, G.M.13
Somer, H.14
Croxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
23
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
H. Mandel, R. Szargel, V. Labay, O. Elpeleg, A. Saada, A. Shalata, Y. Anbinder, D. Berkowitz, C. Hartman, M. Barak, S. Eriksson, and N. Cohen The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA Nat. Genet. 29 2001 337 341
-
(2001)
Nat. Genet.
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
Anbinder, Y.7
Berkowitz, D.8
Hartman, C.9
Barak, M.10
Eriksson, S.11
Cohen, N.12
-
24
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
A. Saada, A. Shaag, H. Mandel, Y. Nevo, S. Eriksson, and O. Elpeleg Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy Nat. Genet. 29 2001 342 344
-
(2001)
Nat. Genet.
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
26
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
T. Bourgeron, P. Rustin, D. Chretien, M. Birch-Machin, M. Bourgeois, A. Munnich, and A. Rötig Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nat. Genet. 11 1995 144 149
-
(1995)
Nat. Genet.
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Bourgeois, M.5
Munnich, A.6
Rötig, A.7
-
27
-
-
84862484238
-
-
http://www.mitomap.org/.
-
-
-
-
28
-
-
0037897337
-
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
-
S. Haut, M. Brivet, G. Touati, R. Rustin, S. Lebon, A. Garcia-Cazorla, J.M. Saudubray, A. Boutron, A. Legrand, and A. Slama A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis Hum. Genet. 113 2003 118 122
-
(2003)
Hum. Genet.
, vol.113
, pp. 118-122
-
-
Haut, S.1
Brivet, M.2
Touati, G.3
Rustin, R.4
Lebon, S.5
Garcia-Cazorla, A.6
Saudubray, J.M.7
Boutron, A.8
Legrand, A.9
Slama, A.10
-
29
-
-
17944381521
-
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
-
P. De Lonlay, I. Valnot, A. Barrientos, M. Gorbatyuk, A. Tzagoloff, J.W. Taanman, E. Benayoun, D. Chretien, N. Kadhom, A. Lombes, H. Ogier de Baulny, P. Niaudet, A. Munnich, P. Rustin, and A. Rötig A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure Nat. Genet. 29 2001 57 60
-
(2001)
Nat. Genet.
, vol.29
, pp. 57-60
-
-
De Lonlay, P.1
Valnot, I.2
Barrientos, A.3
Gorbatyuk, M.4
Tzagoloff, A.5
Taanman, J.W.6
Benayoun, E.7
Chretien, D.8
Kadhom, N.9
Lombes, A.10
Ogier De Baulny, H.11
Niaudet, P.12
Munnich, A.13
Rustin, P.14
Rötig, A.15
-
30
-
-
84862468937
-
-
submitted.
-
N. Gigarel, P.F. Ray, P. Burlet, G. Royer, S. Lebon, N. Frydman, J.P. Bonnefont, R. Frydman, A. Munnich, J. Steffann.l Single cell quantification of the T8993G NARP mitochondrial DNA mutation by fluorescent PCR. submitted.
-
L Single Cell Quantification of the T8993G NARP Mitochondrial DNA Mutation by Fluorescent PCR
-
-
Gigarel, N.1
Ray, P.F.2
Burlet, P.3
Royer, G.4
Lebon, S.5
Frydman, N.6
Bonnefont, J.P.7
Frydman, R.8
Munnich, A.9
Steffann, J.10
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