Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies von Condò, Ivano

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Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

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An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease von Vancheri, Chiara, Quatrana, Andrea, Morini, Elena, Mariotti, Caterina, Mongelli, Alessia, Fichera, Mario, Rufini, Alessandra, Condò, Ivano, Testi, Roberto, Novelli, Giuseppe, Malisan, Florence, Amati, Francesca

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Src kinase phosphorylates Caspase-8 on Tyr380: a novel mechanism of apoptosis suppression von Cursi, Silvia, Rufini, Alessandra, Stagni, Venturina, Condò, Ivano, Matafora, Vittoria, Bachi, Angela, Bonifazi, Antonio Paniccià, Coppola, Luigi, Superti-Furga, Giulio, Testi, Roberto, Barilà, Daniela

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Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans von Schiavi, Alfonso, Torgovnick, Alessandro, Kell, Alison, Megalou, Evgenia, Castelein, Natascha, Guccini, Ilaria, Marzocchella, Laura, Gelino, Sara, Hansen, Malene, Malisan, Florence, Condò, Ivano, Bei, Roberto, Rea, Shane L., Braeckman, Bart P., Tavernarakis, Nektarios, Testi, Roberto, Ventura, Natascia

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Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells von Rufini, Alessandra, Cavallo, Francesca, Condò, Ivano, Fortuni, Silvia, De Martino, Gabriella, Incani, Ottaviano, Di Venere, Almerinda, Benini, Monica, Massaro, Damiano Sergio, Arcuri, Gaetano, Serio, Dario, Malisan, Florence, Testi, Roberto

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Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival von Tiano, Francesca, Amati, Francesca, Cherubini, Fabio, Morini, Elena, Vancheri, Chiara, Maletta, Sara, Fortuni, Silvia, Serio, Dario, Quatrana, Andrea, Luffarelli, Riccardo, Benini, Monica, Alfedi, Giulia, Panarello, Luca, Rufini, Alessandra, Toschi, Nicola, Frontali, Marina, Romano, Silvia, Marcotulli, Christian, Casali, Carlo, Gioiosa, Silvia, Mariotti, Caterina, Mongelli, Alessia, Fichera, Mario, Condò, Ivano, Novelli, Giuseppe, Testi, Roberto, Malisan, Florence

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Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia von Vavla, Marinela, Arrigoni, Filippo, Toschi, Nicola, Peruzzo, Denis, D’Angelo, Maria Grazia, Gandossini, Sandra, Russo, Annamaria, Diella, Eleonora, Tirelli, Stefania, Salati, Roberto, Rufini, Alessandra, Condo, Ivano, Testi, Roberto, Martinuzzi, Andrea

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Drug Repositioning in Friedreich Ataxia von Rufini, Alessandra, Malisan, Florence, Condò, Ivano, Testi, Roberto

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SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia von Bon, Carlotta, Luffarelli, Riccardo, Russo, Roberta, Fortuni, Silvia, Pierattini, Bianca, Santulli, Chiara, Fimiani, Cristina, Persichetti, Francesca, Cotella, Diego, Mallamaci, Antonello, Santoro, Claudio, Carninci, Piero, Espinoza, Stefano, Testi, Roberto, Zucchelli, Silvia, Condò, Ivano, Gustincich, Stefano

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Interferon Gamma Enhances Cytoprotective Pathways via Nrf2 and MnSOD Induction in Friedreich’s Ataxia Cells von Luffarelli, Riccardo, Panarello, Luca, Quatrana, Andrea, Tiano, Francesca, Fortuni, Silvia, Rufini, Alessandra, Malisan, Florence, Testi, Roberto, Condò, Ivano

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Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia von Alfedi, Giulia, Luffarelli, Riccardo, Condò, Ivano, Pedini, Giorgia, Mannucci, Liliana, Massaro, Damiano S., Benini, Monica, Toschi, Nicola, Alaimo, Giorgia, Panarello, Luca, Pacini, Laura, Fortuni, Silvia, Serio, Dario, Malisan, Florence, Testi, Roberto, Rufini, Alessandra

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Hsa-miR223-3p circulating level is upregulated in Friedreich’s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1 von Quatrana, Andrea, Morini, Elena, Tiano, Francesca, Vancheri, Chiara, Panarello, Luca, Romano, Silvia, Marcotulli, Christian, Casali, Carlo, Mariotti, Caterina, Mongelli, Alessia, Fichera, Mario, Rufini, Alessandra, Condò, Ivano, Novelli, Giuseppe, Testi, Roberto, Amati, Francesca, Malisan, Florence

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E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia von Benini, Monica, Fortuni, Silvia, Condò, Ivano, Alfedi, Giulia, Malisan, Florence, Toschi, Nicola, Serio, Dario, Massaro, Damiano Sergio, Arcuri, Gaetano, Testi, Roberto, Rufini, Alessandra

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Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin von Condò, Ivano, Malisan, Florence, Guccini, Ilaria, Serio, Dario, Rufini, Alessandra, Testi, Roberto

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GD3 ganglioside directly targets mitochondria in a bcl‐2‐controlled fashion von Rippo, Maria Rita, Malisan, Florence, Rayagnan, Luigi, Tomassini, Barbara, Condo, Ivano, Costantini, Paola, Susin, Santos A., Rufini, Alessandra, Todaro, Matilde, Kroemer, Guido, Testi, Roberto

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Safety and efficacy of interferon γ in friedreich's ataxia von Vavla, Marinela, D'Angelo, Maria Grazia, Arrigoni, Filippo, Toschi, Nicola, Peruzzo, Denis, Gandossini, Sandra, Russo, Annamaria, Diella, Eleonora, Tirelli, Stefania, Salati, Roberto, Scarpazza, Paolo, Luffarelli, Riccardo, Fortuni, Silvia, Rufini, Alessandra, Condò, Ivano, Testi, Roberto, Martinuzzi, Andrea

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In vivo maturation of human frataxin von Condò, Ivano, Ventura, Natascia, Malisan, Florence, Rufini, Alessandra, Tomassini, Barbara, Testi, Roberto

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Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans von Ventura, Natascia, Rea, Shane, Henderson, Samuel T., Condo, Ivano, Johnson, Thomas E., Testi, Roberto

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Src inhibitors modulate frataxin protein levels von Cherubini, Fabio, Serio, Dario, Guccini, Ilaria, Fortuni, Silvia, Arcuri, Gaetano, Condò, Ivano, Rufini, Alessandra, Moiz, Shadman, Camerini, Serena, Crescenzi, Marco, Testi, Roberto, Malisan, Florence

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