c9RAN translation: a potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia

Bibliography

• Belzil VV, Gendron TF, Petrucelli L. RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci 2012; In press
   PubMed Web of Science ®Google Scholar
• DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-56
   PubMed Web of Science ®Google Scholar
• Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-68
   PubMed Web of Science ®Google Scholar
• Ash PE, Bieniek KF, Gendron TF, et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013;77:639-46
   PubMed Web of Science ®Google Scholar
• Mori K, Weng SM, Arzberger T, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013;339:1335-8
   PubMed Web of Science ®Google Scholar
• Sobczak K, de Mezer M, Michlewski G, et al. RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res 2003;31:5469-82
   PubMedGoogle Scholar
• Taneja KL, McCurrach M, Schalling M, et al. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995;128:995-1002
   PubMed Web of Science ®Google Scholar
• Mooers BH, Logue JS, Berglund JA. The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proc Natl Acad Sci USA 2005;102:16626-31
   PubMed Web of Science ®Google Scholar
• Mankodi A, Takahashi MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002;10:35-44
   PubMed Web of Science ®Google Scholar
• Dansithong W, Paul S, Comai L, et al. MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 2005;280:5773-80
   PubMed Web of Science ®Google Scholar
• Zu T, Gibbens B, Doty NS, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA 2011;108:260-5
   PubMed Web of Science ®Google Scholar
• Jackson RJ, Hellen CU, Pestova TV. The mechanism of eukaryotic translation initiation and principles of its regulation. Nat Rev Mol Cell Biol 2010;11:113-27
   PubMed Web of Science ®Google Scholar
• Todd PK, Oh SY, Krans A, et al. CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome. Neuron 2013;78:440-55
   PubMed Web of Science ®Google Scholar
• Xu Z, Poidevin M, Li X, et al. Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci USA 2013;110:7778-83
   PubMed Web of Science ®Google Scholar
• Reddy K, Zamiri B, Stanley SY, et al. The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J Biol Chem 2013;288:9860-6
   PubMed Web of Science ®Google Scholar
• Mori K, Lammich S, Mackenzie IR, et al. hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 2013;125:413-23
   PubMed Web of Science ®Google Scholar
• Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013;495:467-73
   PubMed Web of Science ®Google Scholar
• Wheeler TM, Sobczak K, Lueck JD, et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009;325:336-9
   PubMed Web of Science ®Google Scholar
• Ofori LO, Hoskins J, Nakamori M, et al. From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy. Nucleic Acids Res 2012;40:6380-90
   PubMedGoogle Scholar
• Childs-Disney JL, Hoskins J, Rzuczek SG, et al. Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. ACS Chem Biol 2012;7:856-62
   PubMedGoogle Scholar
• Wheeler TM, Leger AJ, Pandey SK, et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature 2012;488:111-15
   PubMed Web of Science ®Google Scholar
• Lee JE, Bennett CF, Cooper TA. RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci USA 2012;109:4221-6
   PubMed Web of Science ®Google Scholar
• Sobczak K, Wheeler TM, Wang W, et al. RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy. Mol Ther 2013;21:380-7
   PubMedGoogle Scholar
• Fratta P, Mizielinska S, Nicoll AJ, et al. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2012;2:1016
   PubMed Web of Science ®Google Scholar
• Gijselinck I, Van Langenhove T, van der Zee J, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012;11:54-65
   PubMed Web of Science ®Google Scholar