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Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection
Friedreich ataxia (FRDA) is an autosomal recessive neuro- and cardio-degenerative disorder for which there are no proven effective treatments. FRDA is caused by decreased expression and/or function of the protein frataxin. Frataxin chaperones iron in the mitochondrial matrix and regulates the iron–sulfur cluster (ISC) assembly complex. ISCs are prosthetic groups critical for the function of the Krebs cycle and the mitochondrial electron transport chain. Decreased expression of frataxin is associated with decreased ISC assembly, mitochondrial iron accumulation, and increased oxidative stress, all of which contribute t...
Source: Journal of Biomolecular Screening - September 18, 2015 Category: Molecular Biology Authors: Cotticelli, M. G., Acquaviva, F., Xia, S., Kaur, A., Wang, Y., Wilson, R. B. Tags: Original Research Source Type: research

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia
Friedreich’s ataxia is a neurodegenerative disease caused by deficiency of the mitochondrial protein frataxin. This deficiency results from expansion of a trinucleotide repeat in the first intron of the frataxin gene. Because this repeat expansion resides in an intron and hence does not alter the amino acid sequence of the frataxin protein, gene reactivation could be of therapeutic benefit. High-throughput screening for frataxin activators has so far met with limited success because current cellular models may not accurately assess endogenous frataxin gene regulation. Here we report the design and validation of genom...
Source: Journal of Biomolecular Screening - June 19, 2015 Category: Molecular Biology Authors: Villasenor, R., Miraglia, L., Romero, A., Tu, B., Punga, T., Knuckles, P., Duss, S., Orth, T., Buhler, M. Tags: Original Research Source Type: research