|
Coppola, Giovanni; Marmolino, Daniele; Lu, Daning et al. (2009) Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet 18:2452-61
|
|
Coppola, Giovanni; Choi, Sang-Hyun; Santos, Manuela M et al. (2006) Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration. Neurobiol Dis 22:302-11
|
|
Miranda, Carlos J; Santos, Manuela M; Ohshima, Keiichi et al. (2004) Frataxin overexpressing mice. FEBS Lett 572:281-8
|
|
Santos, Manuela M; Miranda, Carlos J; Levy, Joanne E et al. (2003) Iron metabolism in mice with partial frataxin deficiency. Cerebellum 2:146-53
|
|
Santos, M M; Ohshima, K; Pandolfo, M (2001) Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum Mol Genet 10:1935-44
|
|
Jiralerspong, S; Ge, B; Hudson, T J et al. (2001) Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells. FEBS Lett 509:101-5
|
|
Sakamoto, N; Larson, J E; Iyer, R R et al. (2001) GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities. J Biol Chem 276:27178-87
|
|
Sakamoto, N; Ohshima, K; Montermini, L et al. (2001) Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J Biol Chem 276:27171-7
|
|
Labuda, M; Labuda, D; Miranda, C et al. (2000) Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology 54:2322-4
|
|
Cossee, M; Durr, A; Schmitt, M et al. (1999) Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45:200-6
|
Showing the most recent 10 out of 25 publications
