Costanzo,
Pennisi,
Stella,
Lodi,
Tonon,
Strisciuglio,
Cuda,
Mangiameli,
Concolino,
Scapagnini,
Calabrese,
Butterfield,
Wilson,
Mussari,
D'Agata,
Sapienza,
Roof,
- Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Cavadini, P., O'Neill, H.A., Benada, O., Isaya, G. Hum. Mol. Genet. (2002)
- Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy. Cuda, G., Mussari, A., Concolino, D., Costanzo, F.S., Strisciuglio, P. Hum. Mutat. (2002)
- Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients. De Biase, I., Rasmussen, A., Endres, D., Al-Mahdawi, S., Monticelli, A., Cocozza, S., Pook, M., Bidichandani, S.I. Ann. Neurol. (2007)
- Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Rötig, A., de Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A., Rustin, P. Nat. Genet. (1997)
- The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Moreira, M.C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T., Mendonça, P., Costa, M., Barros, J., Yanagisawa, T., Watanabe, M., Ikeda, Y., Aoki, M., Nagata, T., Coutinho, P., Sequeiros, J., Koenig, M. Nat. Genet. (2001)
- Secondary abnormalities of mitochondrial DNA associated with neurodegeneration. Tabrizi, S.J., Schapira, A.H. Biochem. Soc. Symp. (1999)
- Quantitative analyses of dynamic strain sensitivity in human skin mechanoreceptors. Edin, B.B. J. Neurophysiol. (2004)
- International Cooperative Ataxia Rating Scale (ICARS): appropriate for studies of Friedreich's ataxia? Cano, S.J., Hobart, J.C., Hart, P.E., Korlipara, L.V., Schapira, A.H., Cooper, J.M. Mov. Disord. (2005)
- 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, A.M., Butterfield, D.A. J. Neurol. Sci. (2005)
- Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., Takahashi, T., Nagatomo, H., Sekijima, Y., Kawachi, I., Takiyama, Y., Nishizawa, M., Fukuhara, N., Saito, K., Sugano, S., Tsuji, S. Nat. Genet. (2001)
- Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Puccio, H., Simon, D., Cossée, M., Criqui-Filipe, P., Tiziano, F., Melki, J., Hindelang, C., Matyas, R., Rustin, P., Koenig, M. Nat. Genet. (2001)
- Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Wilson, R.B., Roof, D.M. Nat. Genet. (1997)
- Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Gibson, T.J., Koonin, E.V., Musco, G., Pastore, A., Bork, P. Trends Neurosci. (1996)
- Manganese Is the Link between Frataxin and Iron-Sulfur Deficiency in the Yeast Model of Friedreich Ataxia. Irazusta, V., Cabiscol, E., Reverter-Branchat, G., Ros, J., Tamarit, J. J. Biol. Chem. (2006)
- Lipoamide dehydrogenase: rapid heat inactivation in platelets of patients with recessively inherited ataxia. Kark, R.A., Budelli, M.M., Becker, D.M., Weiner, L.P., Forsythe, A.B. Neurology (1981)
- Lack of efficacy of phosphatidylcholine in ataxias. Sorbi, S., Piacentini, S., Marini, P., De Scisciolo, G., Amantini, A., Amaducci, L. Neurology (1988)
- Structural and functional brain imaging in Friedreich's ataxia. Junck, L., Gilman, S., Gebarski, S.S., Koeppe, R.A., Kluin, K.J., Markel, D.S. Arch. Neurol. (1994)
- Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Bidichandani, S.I., Ashizawa, T., Patel, P.I. Am. J. Hum. Genet. (1997)
- The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. Montermini, L., Rodius, F., Pianese, L., Moltò, M.D., Cossée, M., Campuzano, V., Cavalcanti, F., Monticelli, A., Palau, F., Gyapay, G. Am. J. Hum. Genet. (1995)
- Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Campuzano, V., Montermini, L., Moltò, M.D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Cañizares, J., Koutnikova, H., Bidichandani, S.I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P.I., Di Donato, S., Mandel, J.L., Cocozza, S., Koenig, M., Pandolfo, M. Science (1996)
- Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Campuzano, V., Montermini, L., Lutz, Y., Cova, L., Hindelang, C., Jiralerspong, S., Trottier, Y., Kish, S.J., Faucheux, B., Trouillas, P., Authier, F.J., Dürr, A., Mandel, J.L., Vescovi, A., Pandolfo, M., Koenig, M. Hum. Mol. Genet. (1997)
- Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Stehling, O., Elsässer, H.P., Brückel, B., Mühlenhoff, U., Lill, R. Hum. Mol. Genet. (2004)
- Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. Yoon, T., Cowan, J.A. J. Am. Chem. Soc. (2003)
- Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. Shan, Y., Napoli, E., Cortopassi, G. Hum. Mol. Genet. (2007)
- Locus heterogeneity in Friedreich ataxia. Kostrzewa, M., Klockgether, T., Damian, M.S., Müller, U. Neurogenetics (1997)
- The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. Carvajal, J.J., Pook, M.A., dos Santos, M., Doudney, K., Hillermann, R., Minogue, S., Williamson, R., Hsuan, J.J., Chamberlain, S. Nat. Genet. (1996)
- Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Koutnikova, H., Campuzano, V., Foury, F., Dollé, P., Cazzalini, O., Koenig, M. Nat. Genet. (1997)
- Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Koutnikova, H., Campuzano, V., Koenig, M. Hum. Mol. Genet. (1998)