Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

Abstract Frataxin deficiency, responsible for Friedreich’s ataxia (FRDA), is crucial for cell survival since it critically affects viability of neurons, pancreatic beta cells and cardiomyocytes. In FRDA, the heart is frequently affected with typical manifestation of hypertrophic cardiomyopathy, whic...

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Veröffentlicht in:	Human molecular genetics 2020-02, Vol.29 (3), p.471-482
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism Adult Aged Cardiomyopathy, Hypertrophic - etiology Cardiomyopathy, Hypertrophic - metabolism Cardiomyopathy, Hypertrophic - pathology Female Frataxin Friedreich Ataxia - complications Gene Expression Regulation Heart Failure - etiology Heart Failure - metabolism Heart Failure - pathology Humans Iron-Binding Proteins - genetics Iron-Binding Proteins - metabolism Leukocytes, Mononuclear - metabolism Leukocytes, Mononuclear - pathology Male Middle Aged Myocytes, Cardiac - metabolism Myocytes, Cardiac - pathology Young Adult
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