title: Spinal muscular atrophy: a new player joins the battle for SMN2 exon 7 splicing.
abstract: Spinal Muscular Atrophy (SMA) is a neurodegenerative disease with high impact in the human population, being the leading genetic cause of death in infancy. No cure is currently available for SMA, raising interest in the development of novel therapeutic strategies for this disease. Much of the effort in this sense has been aimed at increasing the SMN2-derived transcript levels, either by improving transcription rate or by reprogramming exon 7 splicing. Herein, we discuss recent findings on the regulation of SMN2 gene expression, focusing on splicing modulation as a therapeutic target. We review the literature regarding splicing factors involved in the regulation of exon 7 splicing in SMN2, and discuss the role played in this process by the RNA binding protein Sam68, a novel crucial regulator of SMN2 splicing.
authors.affiliation: Department of Public Health and Cell Biology, University of Rome Tor Vergata, Laboratory of Neuroembryology at CERC, Fondazione Santa Lucia, Rome, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Pedrotti
authors.forename: Claudio
authors.initials: C
authors.lastname: Sette
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D005786:Gene Expression Regulation; D015316:Genetic Therapy; D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B / Q000378:metabolism; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D012326:RNA Splicing; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; D000076245:Heterogeneous Nuclear Ribonucleoprotein A1; D034481:Heterogeneous-Nuclear Ribonucleoprotein Group A-B; C489559:KHDRBS1 protein, human; D016601:RNA-Binding Proteins; D055540:Survival of Motor Neuron 2 Protein