-
1
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1, a putative homolog of frataxin
-
Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, Pandolfo M, Kaplan J (1997) Regulation of mitochondrial iron accumulation by Yfh1, a putative homolog of frataxin. Science 276: 1709-1712
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
Davis-Kaplan, S.4
Jiralerspong, S.5
Montermini, L.6
Pandolfo, M.7
Kaplan, J.8
-
2
-
-
20444497908
-
Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia
-
Calabrese V, Lodi R, Tonon C, D'Agata V, Sapienza M, Scapagnini G, Mangiameli A, Pennisi G, Stella AM, Butterfiled DA (2005) Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. J Neurol Sci 233: 145-162
-
(2005)
J Neurol Sci
, vol.233
, pp. 145-162
-
-
Calabrese, V.1
Lodi, R.2
Tonon, C.3
D'Agata, V.4
Sapienza, M.5
Scapagnini, G.6
Mangiameli, A.7
Pennisi, G.8
Stella, A.M.9
Butterfiled, D.A.10
-
3
-
-
13344270899
-
Friedreich ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Moltó MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltó, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, P.I.21
Di Donato, S.22
Mandel, J.L.23
Cocozza, S.24
Koenig, M.25
Pandolfo, M.26
more..
-
4
-
-
0033613262
-
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
-
Lodi R, Cooper JM, Bradley JL, Manners D, Styles P, Taylor DJ, Schapira AH (1999) Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 96: 11492-11495
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 11492-11495
-
-
Lodi, R.1
Cooper, J.M.2
Bradley, J.L.3
Manners, D.4
Styles, P.5
Taylor, D.J.6
Schapira, A.H.7
-
5
-
-
12144274441
-
Assembly of human frataxin is a mechanism for detoxifying redox-active iron
-
O'Neill HA, Gakh O, Park S, Cui J, Mooney SM, Sampson M, Ferreira GC, Isaya G (2005) Assembly of human frataxin is a mechanism for detoxifying redox-active iron. Biochemistry 44: 537-545
-
(2005)
Biochemistry
, vol.44
, pp. 537-545
-
-
O'Neill, H.A.1
Gakh, O.2
Park, S.3
Cui, J.4
Mooney, S.M.5
Sampson, M.6
Ferreira, G.C.7
Isaya, G.8
-
7
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M (2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27: 181-618
-
(2001)
Nat Genet
, vol.27
, pp. 181-618
-
-
Puccio, H.1
Simon, D.2
Cossee, M.3
Criqui-Filipe, P.4
Tiziano, F.5
Melki, J.6
Hindelang, C.7
Matyas, R.8
Rustin, P.9
Koenig, M.10
-
8
-
-
0031253821
-
Frataxin gene expansion causes aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia
-
Rötig A, deLonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P (1997) Frataxin gene expansion causes aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia. Nat Genet 17: 215-217
-
(1997)
Nat Genet
, vol.17
, pp. 215-217
-
-
Rötig, A.1
DeLonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
9
-
-
0035445849
-
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm
-
Santos M, Ohshima K, Pandolfo M (2001) Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum Mol Genet 10: 1935-1944
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1935-1944
-
-
Santos, M.1
Ohshima, K.2
Pandolfo, M.3
-
10
-
-
9744248303
-
Iron-sulfur protein maturation in human cells: Evidence for a function of frataxin
-
Stehling O, Elsasser HP, Bruckel B, Muhlenhoff U, Lill R (2004) Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Hum Mol Genet 13: 3007-3015
-
(2004)
Hum Mol Genet
, vol.13
, pp. 3007-3015
-
-
Stehling, O.1
Elsasser, H.P.2
Bruckel, B.3
Muhlenhoff, U.4
Lill, R.5
|