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Analyzing the Effects of a G137V Mutation in the FXN Gene.
Faggianelli N, Puglisi R, Veneziano L, Romano S, Frontali M, Vannocci T, Fortuni S, Testi R, Pastore A. Faggianelli N, et al. Among authors: testi r. Front Mol Neurosci. 2015 Nov 25;8:66. doi: 10.3389/fnmol.2015.00066. eCollection 2015. Front Mol Neurosci. 2015. PMID: 26635519 Free PMC article.
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Tiano F, Amati F, Cherubini F, Morini E, Vancheri C, Maletta S, Fortuni S, Serio D, Quatrana A, Luffarelli R, Benini M, Alfedi G, Panarello L, Rufini A, Toschi N, Frontali M, Romano S, Marcotulli C, Casali C, Gioiosa S, Mariotti C, Mongelli A, Fichera M, Condò I, Novelli G, Testi R, Malisan F. Tiano F, et al. Among authors: testi r. Hum Mol Genet. 2020 Feb 1;29(3):471-482. doi: 10.1093/hmg/ddz306. Hum Mol Genet. 2020. PMID: 31943004
Src inhibitors modulate frataxin protein levels.
Cherubini F, Serio D, Guccini I, Fortuni S, Arcuri G, Condò I, Rufini A, Moiz S, Camerini S, Crescenzi M, Testi R, Malisan F. Cherubini F, et al. Among authors: testi r. Hum Mol Genet. 2015 Aug 1;24(15):4296-305. doi: 10.1093/hmg/ddv162. Epub 2015 May 6. Hum Mol Genet. 2015. PMID: 25948553
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.
Rufini A, Cavallo F, Condò I, Fortuni S, De Martino G, Incani O, Di Venere A, Benini M, Massaro DS, Arcuri G, Serio D, Malisan F, Testi R. Rufini A, et al. Among authors: testi r. Neurobiol Dis. 2015 Mar;75:91-9. doi: 10.1016/j.nbd.2014.12.011. Epub 2014 Dec 27. Neurobiol Dis. 2015. PMID: 25549872 Free PMC article.
SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
Bon C, Luffarelli R, Russo R, Fortuni S, Pierattini B, Santulli C, Fimiani C, Persichetti F, Cotella D, Mallamaci A, Santoro C, Carninci P, Espinoza S, Testi R, Zucchelli S, Condò I, Gustincich S. Bon C, et al. Among authors: testi r. Nucleic Acids Res. 2019 Nov 18;47(20):10728-10743. doi: 10.1093/nar/gkz798. Nucleic Acids Res. 2019. PMID: 31584077 Free PMC article.
169 results