Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies . Aurélien Bayot, Sacha Reichman, Sophie Lebon, Zsolt Csaba, Laetitia Aubry, Ghislaine Sterkers, Isabelle Husson, Malgorzata Rak, Pierre Rustin; Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt144 First published online: April 2, 2013.
KEYWORDS: Friedreich's ataxia (FRDA), intronic expansion of GAA triplet repeats, FXN locus, mitochondrial frataxin, profound cytoskeleton anomalies, PIP5K1B gene, phosphatidylinositol 4-phosphate 5-kinase β type I (pip5k1β), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2), actin network.