-
2
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Andersen S, Bankier AT, Barrel BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon 1C. Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R. Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Andersen, S.1
Bankier, A.T.2
Barrel, B.G.3
De Mhl, B.4
Coulson, A.R.5
Drouin, J.6
Eperon, C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
Ph Schreier11
Ajh, S.12
Staden, R.13
Young, I.G.14
-
3
-
-
0029027557
-
Searching for genes affecting the structural integrity of the mitochondrial genome
-
Zeviani M, Amati P, Comi G, Fratta G, Mariotti C, Tiranti V (1995) Searching for genes affecting the structural integrity of the mitochondrial genome. Biochim Biophys Acta 1271:153-158
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 153-158
-
-
Zeviani, M.1
Amati, P.2
Comi, G.3
Fratta, G.4
Mariotti, C.5
Tiranti, V.6
-
4
-
-
0028833524
-
An autosomal locus predisposing to deletions of mitochondrial DNA
-
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9:146-151
-
(1995)
Nat Genet
, vol.9
, pp. 146-151
-
-
Suomalainen, A.1
Kaukonen, J.2
Amati, P.3
Timonen, R.4
Haltia, M.5
Weissenbach, J.6
Zeviani, M.7
Somer, H.8
Peltonen, L.9
-
5
-
-
0033365348
-
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
-
Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A. (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65:256-261
-
(1999)
Am J Hum Genet
, vol.65
, pp. 256-261
-
-
Kaukonen, J.1
Zeviani, M.2
Comi, G.P.3
Piscaglia, M.G.4
Peltonen, L.5
Suomalainen, A.6
-
6
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
7
-
-
0032471513
-
Getting to the nucleus of mitochondrial disorders: Identification of respiratory chain-enzyme genes causing Leigh syndrome
-
Dahl HH (1998) Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet. 63:1594-1597
-
(1998)
Am J Hum Genet.
, vol.63
, pp. 1594-1597
-
-
Dahl, H.H.1
-
8
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez A, Uziel G, Bertini E, DionisiVici C, Franco B, Meitinger T, Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621
-
(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, A.12
Uziel, G.13
Bertini, E.14
Dionisivici, C.15
Franco, B.16
Meitinger, T.17
Zeviani, M.18
-
9
-
-
0032816291
-
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
-
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46:161 -166
-
(1999)
Ann Neurol
, vol.46
, pp. 161-166
-
-
Tiranti, V.1
Jaksch, M.2
Hofmann, S.3
Galimberti, C.4
Hoertnagel, K.5
Lulli, L.6
Freisinger, P.7
Bindoff, L.8
Gerbitz, K.D.9
Comi, G.P.10
Uziel, G.11
Zeviani, M.12
Meitinger, T.13
-
10
-
-
17344362021
-
Surfl, a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Zhu Z, Yao J, Johns T, Fu K, de Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J-C, Chevrette M, Brown GK, Brown RM, Shoubridge E (1998) Surfl, a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343
-
(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.-C.9
Chevrette, M.10
Brown, G.K.11
Brown, R.M.12
Shoubridge, E.13
-
11
-
-
0032534869
-
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
-
Petruzzella V, Tiranti V, Fernandez P, lanna P, Carrozzo R, Zeviani M (1998) Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54:494-504
-
(1998)
Genomics
, vol.54
, pp. 494-504
-
-
Petruzzella, V.1
Tiranti, V.2
Fernandez, P.3
Lanna, P.4
Carrozzo, R.5
Zeviani, M.6
-
12
-
-
0032699506
-
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
-
Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA (1999) Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 3:333-337
-
(1999)
Nat Genet
, vol.3
, 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..
-
13
-
-
0033054177
-
The Friedreich's ataxia mutation con-fers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
-
Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, Cortopassi G (1999) The Friedreich's ataxia mutation con-fers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet 8:425-430
-
(1999)
Hum Mol Genet
, vol.8
, pp. 425-430
-
-
Wong, A.1
Yang, J.2
Cavadini, P.3
Gellera, C.4
Lonnerdal, B.5
Taroni, F.6
Cortopassi, G.7
-
14
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernande/ P, De Michèle G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernande, P.6
De Michèle, G.7
Filla, A.8
Cocozza, S.9
Marconi, R.10
Dürr, A.11
Fontaine, B.12
Ballabio, A.13
-
15
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D ( 1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
17
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
Rahman S, Blok RB, Dahl H-H, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR (1996) Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351
-
(1996)
Ann Neurol
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.-H.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
18
-
-
0031058265
-
A single cell complementation class is common to several cases of cytochrome c oxidase defective Leigh's syndrome
-
Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R, Zeviani M (1997) A single cell complementation class is common to several cases of cytochrome c oxidase defective Leigh's syndrome. Hum Mol Genet 6:221-228
-
(1997)
Hum Mol Genet
, vol.6
, pp. 221-228
-
-
Munaro, M.1
Tiranti, V.2
Sandonà, D.3
Lamantea, E.4
Uziel, G.5
Bisson, R.6
Zeviani, M.7
-
19
-
-
0029805243
-
Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome
-
Brown RM, Brown GK (1996) Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome. J Inherit Metab Dis 19:752-760
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 752-760
-
-
Brown, R.M.1
Brown, G.K.2
-
20
-
-
0029942862
-
The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 a
-
Tsukihara T, Aoyama H, Yamashita E, Tomizaki T, Yamaguchi H, Shinzawa-Itoh K, Nakashima R, Yaono R, Yoshikawa S (1996) The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A. Science 272:1136-1144
-
(1996)
Science
, vol.272
, pp. 1136-1144
-
-
Tsukihara, T.1
Aoyama, H.2
Yamashita, E.3
Tomizaki, T.4
Yamaguchi, H.5
Shinzawa-Itoh, K.6
Nakashima, R.7
Yaono, R.8
Yoshikawa, S.9
-
21
-
-
0031009910
-
SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration
-
Mashkevich G, Repetto B, Glerum DM, Jin C, Tzagoloff A (1997) SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration. J Biol Chem 272:14356-14364
-
(1997)
J Biol Chem
, vol.272
, pp. 14356-14364
-
-
Mashkevich, G.1
Repetto, B.2
Glerum, D.M.3
Jin, C.4
Tzagoloff, A.5
-
22
-
-
0032712588
-
Characterization of SURF-1 expression and surf-lp function in normal and disease conditions
-
Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP, Zeviani M (1999) Characterization of SURF-1 expression and surf-lp function in normal and disease conditions. Hum Mol Genet 8:2533-2540
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2533-2540
-
-
Tiranti, V.1
Galimberti, C.2
Nijtmans, L.3
Bovolenta, S.4
Perini, M.P.5
Zeviani, M.6
-
23
-
-
0026409298
-
Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form
-
Schagger H, von Jagow G (1991) Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 199:223-231
-
(1991)
Anal Biochem
, vol.199
, pp. 223-231
-
-
Schagger, H.1
Von Jagow, G.2
-
24
-
-
0032104133
-
Assembly of cytochrome c oxidase in cultured human cells
-
Nijtmans LGJ, Taanman JW, Muijsers AO, Speijer D, Van den Bogert C (1998) Assembly of cytochrome c oxidase in cultured human cells. Eur J Biochem 254:389-394
-
(1998)
Eur J Biochem
, vol.254
, pp. 389-394
-
-
Lgj, N.1
Taanman, J.W.2
Muijsers, A.O.3
Speijer, D.4
Van Den Bogert, C.5
-
25
-
-
0028038276
-
Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox 10 mutant
-
Glerum DM, Tzagoloff A ( 1994) Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox 10 mutant. Proc Natl Acad Sei USA 91:8452-8456
-
(1994)
Proc Natl Acad Sei USA
, vol.91
, pp. 8452-8456
-
-
Glerum, D.M.1
Tzagoloff, A.2
-
26
-
-
15844421373
-
Characterization of COX 17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase
-
Glerum DM, Shtanko A, Tzagaloff A ( 1996) Characterization of COX 17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase. J Biol Chem 271:14504-14509
-
(1996)
J Biol Chem
, vol.271
, pp. 14504-14509
-
-
Glerum, D.M.1
Shtanko, A.2
Tzagaloff, A.3
|