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PMID: 19239895 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

RNA and disease.

Cell ·Vol. 136 ·No. 4 ·2009-02-20 ·Pages 777-93

Cooper TA, Wan L, Dreyfuss G

Abstract

Cellular functions depend on numerous protein-coding and noncoding RNAs and the RNA-binding proteins associated with them, which form ribonucleoprotein complexes (RNPs). Mutations that disrupt either the RNA or protein components of RNPs or the factors required for their assembly can be deleterious. Alternative splicing provides cells with an exquisite capacity to fine-tune their transcriptome and proteome in response to cues. Splicing depends on a complex code, numerous RNA-binding proteins, and an enormously intricate network of interactions among them, increasing the opportunity for exposure to mutations and misregulation that cause disease. The discovery of disease-causing mutations in RNAs is yielding a wealth of new therapeutic targets, and the growing understanding of RNA biology and chemistry is providing new RNA-based tools for developing therapeutics.

MeSH Terms
Alternative Splicing Disease/genetics Mutation RNA/therapeutic use RNA Splicing Therapeutics
Chemicals
RNA
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Cooper Thomas A
Department of Pathology, Baylor College of Medicine, Houston, TX 77030, USA. tcooper@bcm.tmc.edu
Wan Lili
Dreyfuss Gideon
References (148)
148 references, click to expand
  1. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation.
    Mol Cell. 2007 Oct 12;28(1):68-78 PMID: 17936705
  2. Multiple and specific mRNA processing targets for the major human hnRNP proteins.
    Mol Cell Biol. 2008 Oct;28(19):6033-43 PMID: 18644864
  3. Expression strategies for short hairpin RNA interference triggers.
    Hum Gene Ther. 2008 Apr;19(4):313-7 PMID: 18363506
  4. Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2.
    Genes Dev. 2008 Sep 15;22(18):2550-63 PMID: 18794351
  5. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.
    Neuron. 2007 Aug 16;55(4):565-71 PMID: 17698010
  6. The fragile-X premutation: a maturing perspective.
    Am J Hum Genet. 2004 May;74(5):805-16 PMID: 15052536
  7. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
    Hum Mutat. 2006 Jul;27(7):644-53 PMID: 16708387
  8. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.
    Nat Genet. 2003 Aug;34(4):460-3 PMID: 12833158
  9. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing.
    Nat Genet. 2008 Dec;40(12):1413-5 PMID: 18978789
  10. Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs.
    Mol Ther. 2005 Dec;12(6):1013-22 PMID: 16226920
  11. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.
    J Cell Biol. 2003 Nov 24;163(4):801-12 PMID: 14623865
  12. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.
    Am J Hum Genet. 2006 Jan;78(1):63-77 PMID: 16385450
  13. Ribonucleoprotein complexes in neurologic diseases.
    Curr Opin Neurobiol. 2008 Oct;18(5):516-23 PMID: 18929657
  14. Small interfering RNA (siRNA) targeting VEGF effectively inhibits ocular neovascularization in a mouse model.
    Mol Vis. 2003 May 30;9:210-6 PMID: 12789138
  15. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.
    PLoS One. 2007 Sep 26;2(9):e921 PMID: 17895963
  16. Pre-mRNA splicing and retinitis pigmentosa.
    Mol Vis. 2006 Oct 26;12:1259-71 PMID: 17110909
  17. Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides.
    J Biol Chem. 1999 Dec 17;274(51):36193-9 PMID: 10593905
  18. The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy.
    Mol Cell Biol. 2005 Jul;25(13):5543-51 PMID: 15964810
  19. SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing.
    Cell. 2008 May 16;133(4):585-600 PMID: 18485868
  20. New implications for the QUAKING RNA binding protein in human disease.
    J Neurosci Res. 2008 Feb 1;86(2):233-42 PMID: 17787018
  21. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1).
    Hum Mol Genet. 2000 Jun 12;9(10):1543-51 PMID: 10888605
  22. Sequence- and target-independent angiogenesis suppression by siRNA via TLR3.
    Nature. 2008 Apr 3;452(7187):591-7 PMID: 18368052
  23. The gene encoding the splicing factor SF2/ASF is a proto-oncogene.
    Nat Struct Mol Biol. 2007 Mar;14(3):185-93 PMID: 17310252
  24. Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing.
    J Clin Invest. 2003 Aug;112(4):481-6 PMID: 12925686
  25. Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment.
    EMBO Rep. 2004 Sep;5(9):872-6 PMID: 15470384
  26. HITS-CLIP yields genome-wide insights into brain alternative RNA processing.
    Nature. 2008 Nov 27;456(7221):464-9 PMID: 18978773
  27. Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.
    Mol Cell Biol. 2005 Nov;25(22):10005-16 PMID: 16260614
  28. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.
    Nat Genet. 2002 Apr;30(4):377-84 PMID: 11925564
  29. Shuttling of pre-mRNA binding proteins between nucleus and cytoplasm.
    Nature. 1992 Feb 20;355(6362):730-2 PMID: 1371331
  30. Inhibition of HIV-1 multiplication by a modified U7 snRNA inducing Tat and Rev exon skipping.
    J Gene Med. 2007 May;9(5):323-34 PMID: 17474072
  31. A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators.
    Proc Natl Acad Sci U S A. 2008 Aug 12;105(32):11218-23 PMID: 18678901
  32. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.
    Neuron. 2007 Aug 16;55(4):556-64 PMID: 17698009
  33. A computational analysis of sequence features involved in recognition of short introns.
    Proc Natl Acad Sci U S A. 2001 Sep 25;98(20):11193-8 PMID: 11572975
  34. A specific subset of SR proteins shuttles continuously between the nucleus and the cytoplasm.
    Genes Dev. 1998 Jan 1;12(1):55-66 PMID: 9420331
  35. The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population.
    Trends Genet. 2008 Jan;24(1):5-7 PMID: 18054116
  36. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.
    J Neurosci. 2003 Jul 23;23(16):6627-37 PMID: 12878704
  37. Genetic treatments in muscular dystrophies.
    Curr Opin Neurol. 2007 Oct;20(5):590-4 PMID: 17885450
  38. Trinucleotide repeat disorders.
    Annu Rev Neurosci. 2007;30:575-621 PMID: 17417937
  39. Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors.
    Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8764-9 PMID: 15939885
  40. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
    Nat Genet. 2008 May;40(5):572-4 PMID: 18372902
  41. RNA toxicity is a component of ataxin-3 degeneration in Drosophila.
    Nature. 2008 Jun 19;453(7198):1107-11 PMID: 18449188
  42. Identification and characterization of a spinal muscular atrophy-determining gene.
    Cell. 1995 Jan 13;80(1):155-65 PMID: 7813012
  43. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.
    Hum Mol Genet. 2007 Dec 15;16(24):3149-59 PMID: 17884807
  44. Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy.
    Neuromuscul Disord. 2007 Apr;17(4):306-12 PMID: 17331722
  45. Evolving concepts on human SMN pre-mRNA splicing.
    RNA Biol. 2007 Jan-Mar;4(1):7-10 PMID: 17592254
  46. Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides.
    Proc Natl Acad Sci U S A. 1993 Sep 15;90(18):8673-7 PMID: 8378346
  47. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets.
    Mol Cell. 2007 Feb 23;25(4):575-86 PMID: 17317629
  48. Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy.
    J Clin Invest. 2007 Oct;117(10):2802-11 PMID: 17823658
  49. The biflavonoid isoginkgetin is a general inhibitor of Pre-mRNA splicing.
    J Biol Chem. 2008 Nov 28;283(48):33147-54 PMID: 18826947
  50. Tau exon 10 alternative splicing and tauopathies.
    Mol Neurodegener. 2008 Jul 10;3:8 PMID: 18616804
  51. Spinal muscular atrophy: from gene to therapy.
    Semin Pediatr Neurol. 2006 Jun;13(2):121-31 PMID: 17027862
  52. Spliceosomal UsnRNP biogenesis, structure and function.
    Curr Opin Cell Biol. 2001 Jun;13(3):290-301 PMID: 11343899
  53. The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.
    J Hum Genet. 2004;49(6):308-311 PMID: 15148587
  54. Applying small RNA molecules to the directed treatment of human diseases: realizing the potential.
    Expert Opin Ther Targets. 2008 Jan;12(1):115-27 PMID: 18076375
  55. Applying antisense technology: Affinitak and other antisense oligonucleotides in clinical development.
    Ann N Y Acad Sci. 2003 Dec;1002:244-51 PMID: 14751839
  56. Applications of RNA interference: current state and prospects for siRNA-based strategies in vivo.
    Appl Microbiol Biotechnol. 2007 Aug;76(1):9-21 PMID: 17457539
  57. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.
    J Clin Invest. 2007 Dec;117(12):3952-7 PMID: 18008009
  58. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
    Science. 2008 Mar 21;319(5870):1668-72 PMID: 18309045
  59. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.
    Science. 2004 Dec 3;306(5702):1796-9 PMID: 15528407
  60. The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing.
    Differentiation. 2006 Mar;74(2-3):65-80 PMID: 16533306
  61. Manipulation of alternative splicing by a newly developed inhibitor of Clks.
    J Biol Chem. 2004 Jun 4;279(23):24246-54 PMID: 15010457
  62. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy.
    Nucleic Acids Res. 1996 Nov 15;24(22):4407-14 PMID: 8948631
  63. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.
    Front Biosci. 2008 Jan 01;13:867-78 PMID: 17981595
  64. Alternative isoform regulation in human tissue transcriptomes.
    Nature. 2008 Nov 27;456(7221):470-6 PMID: 18978772
  65. RNA editing by adenosine deaminases generates RNA and protein diversity.
    Biochimie. 2002 Aug;84(8):791-803 PMID: 12457566
  66. Cell motility is controlled by SF2/ASF through alternative splicing of the Ron protooncogene.
    Mol Cell. 2005 Dec 22;20(6):881-90 PMID: 16364913
  67. Allele-specific transcript isoforms in human.
    FEBS Lett. 2004 Nov 5;577(1-2):233-8 PMID: 15527791
  68. Transcript specificity in yeast pre-mRNA splicing revealed by mutations in core spliceosomal components.
    PLoS Biol. 2007 Apr;5(4):e90 PMID: 17388687
  69. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.
    Neurobiol Dis. 2007 May;26(2):291-300 PMID: 17350276
  70. First clinical data on RNAi.
    Drug Discov Today. 2005 Aug 1;10(15):1014-5 PMID: 16055013
  71. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.
    Mol Cell. 2005 Nov 11;20(3):483-9 PMID: 16285929
  72. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial.
    Lancet. 2008 Aug 30;372(9640):719-27 PMID: 18722008
  73. Control of translation and mRNA degradation by miRNAs and siRNAs.
    Genes Dev. 2006 Mar 1;20(5):515-24 PMID: 16510870
  74. Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model.
    Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3758-63 PMID: 16501048
  75. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.
    J Gen Physiol. 2007 Jan;129(1):79-94 PMID: 17158949
  76. Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines.
    Nat Genet. 2008 Dec;40(12):1416-25 PMID: 18978788
  77. MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.
    Hum Mol Genet. 2006 Jul 1;15(13):2138-45 PMID: 16723374
  78. Why do cells need an assembly machine for RNA-protein complexes?
    Trends Cell Biol. 2004 May;14(5):226-32 PMID: 15130578
  79. A muscleblind knockout model for myotonic dystrophy.
    Science. 2003 Dec 12;302(5652):1978-80 PMID: 14671308
  80. A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart.
    Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20333-8 PMID: 19075228
  81. SnapShot: The splicing regulatory machinery.
    Cell. 2008 Apr 4;133(1):192.e1 PMID: 18394998
  82. Artificial microRNAs as siRNA shuttles: improved safety as compared to shRNAs in vitro and in vivo.
    Mol Ther. 2009 Jan;17(1):169-75 PMID: 19002161
  83. The connection between splicing and cancer.
    J Cell Sci. 2006 Jul 1;119(Pt 13):2635-41 PMID: 16787944
  84. hnRNP proteins and the biogenesis of mRNA.
    Annu Rev Biochem. 1993;62:289-321 PMID: 8352591
  85. The splicing-factor oncoprotein SF2/ASF activates mTORC1.
    Proc Natl Acad Sci U S A. 2008 Oct 7;105(40):15323-7 PMID: 18832178
  86. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
    Cell. 2006 May 19;125(4):801-14 PMID: 16713569
  87. Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics.
    Genome Res. 2008 Jan;18(1):77-87 PMID: 18032726
  88. Listening to silence and understanding nonsense: exonic mutations that affect splicing.
    Nat Rev Genet. 2002 Apr;3(4):285-98 PMID: 11967553
  89. Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy.
    Clin Pharmacol Ther. 2007 Jan;81(1):99-103 PMID: 17186006
  90. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance.
    Am J Hum Genet. 2004 Jun;74(6):1322-5 PMID: 15195661
  91. The search for alternative splicing regulators: new approaches offer a path to a splicing code.
    Genes Dev. 2008 Feb 1;22(3):279-85 PMID: 18245441
  92. The spliceosome: the most complex macromolecular machine in the cell?
    Bioessays. 2003 Dec;25(12):1147-9 PMID: 14635248
  93. The ever-increasing complexities of the exon junction complex.
    Curr Opin Cell Biol. 2004 Jun;16(3):279-84 PMID: 15145352
  94. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.
    Hum Mol Genet. 2006 Jul 1;15(13):2087-97 PMID: 16717059
  95. Are splicing mutations the most frequent cause of hereditary disease?
    FEBS Lett. 2005 Mar 28;579(9):1900-3 PMID: 15792793
  96. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology.
    Nat Med. 2006 Feb;12(2):175-7 PMID: 16444267
  97. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.
    Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):4114-9 PMID: 12642665
  98. CLIP: a method for identifying protein-RNA interaction sites in living cells.
    Methods. 2005 Dec;37(4):376-86 PMID: 16314267
  99. Splicing in disease: disruption of the splicing code and the decoding machinery.
    Nat Rev Genet. 2007 Oct;8(10):749-61 PMID: 17726481
  100. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.
    Nat Rev Mol Cell Biol. 2004 Feb;5(2):89-99 PMID: 15040442
  101. Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases.
    Org Biomol Chem. 2008 Jan 21;6(2):227-39 PMID: 18174989
  102. Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs.
    Nucleic Acids Res. 2007;35(16):5474-86 PMID: 17702765
  103. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
    Science. 2001 Aug 3;293(5531):864-7 PMID: 11486088
  104. Nonsense-mediated mRNA decay in health and disease.
    Hum Mol Genet. 1999;8(10):1893-900 PMID: 10469842
  105. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.
    Nat Med. 2005 Apr;11(4):440-5 PMID: 15750600
  106. Deciphering the assembly pathway of Sm-class U snRNPs.
    FEBS Lett. 2008 Jun 18;582(14):1997-2003 PMID: 18348870
  107. MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T.
    RNA. 2007 Dec;13(12):2238-51 PMID: 17942744
  108. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code.
    RNA. 2008 May;14(5):802-13 PMID: 18369186
  109. Mechanical devices of the spliceosome: motors, clocks, springs, and things.
    Cell. 1998 Feb 6;92(3):315-26 PMID: 9476892
  110. PTC124 targets genetic disorders caused by nonsense mutations.
    Nature. 2007 May 3;447(7140):87-91 PMID: 17450125
  111. RNA-binding proteins in human genetic disease.
    Trends Genet. 2008 Aug;24(8):416-25 PMID: 18597886
  112. An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.
    Hum Mol Genet. 2006 Mar 15;15(6):999-1013 PMID: 16461336
  113. Correction of disease-associated exon skipping by synthetic exon-specific activators.
    Nat Struct Biol. 2003 Feb;10(2):120-5 PMID: 12524529
  114. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.
    Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11748-53 PMID: 16864772
  115. Peptide-conjugated antisense oligonucleotides for targeted inhibition of a transcriptional regulator in vivo.
    Nat Biotechnol. 2008 Jan;26(1):91-100 PMID: 18176556
  116. Antisense oligonucleotide therapy for neurodegenerative disease.
    J Clin Invest. 2006 Aug;116(8):2290-6 PMID: 16878173
  117. Protein composition of the intranuclear inclusions of FXTAS.
    Brain. 2006 Jan;129(Pt 1):256-71 PMID: 16246864
  118. Suppression of ocular neovascularization with siRNA targeting VEGF receptor 1.
    Gene Ther. 2006 Feb;13(3):225-34 PMID: 16195704
  119. Promising nucleic acid analogs and mimics: characteristic features and applications of PNA, LNA, and morpholino.
    Appl Microbiol Biotechnol. 2006 Aug;71(5):575-86 PMID: 16683135
  120. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
    Hum Mol Genet. 2007 Dec 15;16(24):3174-87 PMID: 17921506
  121. The selective RNA-binding protein quaking I (QKI) is necessary and sufficient for promoting oligodendroglia differentiation.
    J Biol Chem. 2007 Aug 10;282(32):23553-60 PMID: 17575274
  122. Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.
    Ann Neurol. 2007 Mar;61(3):272-82 PMID: 17387722
  123. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.
    Cell. 1998 Oct 2;95(1):41-53 PMID: 9778246
  124. Alternative pre-mRNA splicing: the logic of combinatorial control.
    Trends Biochem Sci. 2000 Aug;25(8):381-8 PMID: 10916158
  125. Genomewide analysis of mRNA processing in yeast using splicing-specific microarrays.
    Science. 2002 May 3;296(5569):907-10 PMID: 11988574
  126. Spinal muscular atrophy.
    Semin Neurol. 2001 Jun;21(2):189-97 PMID: 11442327
  127. Utilization of host SR protein kinases and RNA-splicing machinery during viral replication.
    Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11329-33 PMID: 16840555
  128. LNA-mediated microRNA silencing in non-human primates.
    Nature. 2008 Apr 17;452(7189):896-9 PMID: 18368051
  129. Insights into the connection between cancer and alternative splicing.
    Trends Genet. 2008 Jan;24(1):7-10 PMID: 18054115
  130. hnRNP proteins and splicing control.
    Adv Exp Med Biol. 2007;623:123-47 PMID: 18380344
  131. Mammalian CELF/Bruno-like RNA-binding proteins: molecular characteristics and biological functions.
    Biochimie. 2006 May;88(5):515-25 PMID: 16480813
  132. Therapeutic application of RNAi: is mRNA targeting finally ready for prime time?
    J Clin Invest. 2007 Dec;117(12):3633-41 PMID: 18060021
  133. Messenger-RNA-binding proteins and the messages they carry.
    Nat Rev Mol Cell Biol. 2002 Mar;3(3):195-205 PMID: 11994740
  134. The emerging role of splicing factors in cancer.
    EMBO Rep. 2008 Nov;9(11):1087-93 PMID: 18846105
  135. Developmental expression profile of quaking, a candidate gene for schizophrenia, and its target genes in human prefrontal cortex and hippocampus shows regional specificity.
    J Neurosci Res. 2008 Mar;86(4):785-96 PMID: 17918747
  136. Strong association of de novo copy number mutations with autism.
    Science. 2007 Apr 20;316(5823):445-9 PMID: 17363630
  137. Genome-wide analysis of transcript isoform variation in humans.
    Nat Genet. 2008 Feb;40(2):225-31 PMID: 18193047
  138. AAV vectors for RNA-based modulation of gene expression.
    Gene Ther. 2008 Jun;15(11):864-9 PMID: 18418414
  139. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
    PLoS Genet. 2008 Sep 19;4(9):e1000193 PMID: 18802454
  140. RNA-binding proteins and post-transcriptional gene regulation.
    FEBS Lett. 2008 Jun 18;582(14):1977-86 PMID: 18342629
  141. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.
    Hum Mol Genet. 1995 Apr;4(4):599-606 PMID: 7543316
  142. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.
    J Med Genet. 2009 Feb;46(2):112-4 PMID: 18931000
  143. Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy.
    Genes Dev. 2005 Oct 1;19(19):2320-30 PMID: 16204184
  144. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation.
    Hum Mol Genet. 2009 Feb 1;18(3):546-55 PMID: 19010792
  145. Splicing double: insights from the second spliceosome.
    Nat Rev Mol Cell Biol. 2003 Dec;4(12):960-70 PMID: 14685174
  146. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
    Proc Natl Acad Sci U S A. 2005 May 3;102(18):6368-72 PMID: 15840711
  147. Identification of alternative splicing regulators by RNA interference in Drosophila.
    Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15974-9 PMID: 15492211
  148. Alternative splicing: multiple control mechanisms and involvement in human disease.
    Trends Genet. 2002 Apr;18(4):186-93 PMID: 11932019
Article Info
Journal
Cell
Abbr.
Cell
ISSN
1097-4172
DOI
10.1016/j.cell.2009.02.011
Email
tcooper@bcm.tmc.edu
Published
2009-02-20
Pages
777-93
Language
English
Region
United States
NLM ID
0413066
PMCID
PMC2866189
Subset
IM
Grants
NIGMS NIH HHS · R01 GM076493 · United States
NIAMS NIH HHS · R01 AR045653 · United States
NIAMS NIH HHS · R01 AR060733 · United States
Howard Hughes Medical Institute · United States
NHLBI NIH HHS · R01 HL045565 · United States
External Links
PubMed source DOI: 10.1016/j.cell.2009.02.011 PMC Full Text View journal details
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