Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen |
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Authors: | Nadège Calmels Hervé Seznec Pascal Villa Laurence Reutenauer Marcel Hibert Jacques Haiech Pierre Rustin Michel Koenig Hélène Puccio |
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Institution: | 1. IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),.CNRS/INSERM/Université Louis Pasteur, 67404, Illkirch, cedex, France 5. Interface Physique Biologie, Centre d'Etudes Nucléaires de Bordeaux-Gradignan, CNRS/IN2P3-UMR5797, BP120 - 33175, Gradignan, France 2. IFR 85/PCBIS (Plateforme de Chimie Biologique Intégrative de Strasbourg),.ESBS P?le API, 67401, Illkirch, France 3. UMR7175/CNRS/Université, Louis Pasteur, 67404, Illkirch, cedex, France 4. INSERM U676,.H?pital Robert Debré, 75019, Paris, France
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Abstract: | Background Pharmacological high-throughput screening (HTS) represents a powerful strategy for drug discovery in genetic diseases, particularly
when the full spectrum of pathological dysfunctions remains unclear, such as in Friedreich ataxia (FRDA). FRDA, the most common
recessive ataxia, results from a generalized deficiency of mitochondrial and cytosolic iron-sulfur cluster (ISC) proteins
activity, due to a partial loss of frataxin function, a mitochondrial protein proposed to function as an iron-chaperone for
ISC biosynthesis. In the absence of measurable catalytic function for frataxin, a cell-based assay is required for HTS assay. |
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