Wednesday, August 27, 2014

Epigenetic therapy for Friedreich's ataxia

Epigenetic therapy for Friedreich's ataxia;Elisabetta Soragni PhD, Wenyan Miao PhD, Marco Iudicello MD, David Jacoby MD, Stefania Demercanti M, Marinella Clerico MD, Filomena Longo MD, Antonio Piga MD, Sherman Ku PhD, Erica Campau BS, Jintang Du PhD, Pablo Penalver PhD1, Myriam Rai PhD Joseph C. Madara PhD, Kristopher Nazor PhD, Melinda O'Connor PhD, Anton Maximov PhD, Jeanne F. Loring PhD, Massimo Pandolfo MD, Luca Durelli MD, Joel M. Gottesfeld PhD and James R. Rusche PhD. Annals of Neurology, Accepted manuscript online: 27 AUG 2014 04:31AM EST | DOI: 10.1002/ana.24260

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability.

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability. Kaalak Reddy, Monika H.M. Schmidt, Jaimie M. Geist, Neha P. Thakkar, Gagan B. Panigrahi, Yuh-Hwa Wang and Christopher E. Pearson; Nucl. Acids Res. (2014) doi: 10.1093/nar/gku658 First published online: August 21, 2014

Open Access article distributed under the terms of the Creative Commons, FULL TEXT PDF

R-loops, transcriptionally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases including myotonic dystrophy, Huntington's disease, fragile X and Friedreich's ataxia.