102
Views
7
CrossRef citations to date
0
Altmetric
Review

Splicing modulation therapy in the treatment of genetic diseases

, &
Pages 245-252 | Published online: 04 Dec 2014

References

  • KaplanJCHamrounDThe 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)Neuromuscul Disord201323121081111124446552
  • BertrandATChikhaouiKYaouRBBonneGClinical and genetic heterogeneity in laminopathiesBiochem Soc Trans20113961687169222103508
  • LewandowskaMAThe missing puzzle piece: splicing mutationsInt J Clin Exp Pathol20136122675268224294354
  • CirakSArechavala-GomezaVGuglieriMExon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation studyLancet2011378979159560521784508
  • GoemansNMTuliniusMvan den AkkerJTSystemic administration of PRO051 in Duchenne’s muscular dystrophyN Engl J Med2011364161513152221428760
  • HuaYSahashiKHungGAntisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse modelGenes Dev201024151634164420624852
  • ZanettaCNizzardoMSimoneCMolecular therapeutic strategies for spinal muscular atrophies: current and future clinical trialsClin Ther201436112814024360800
  • YokotaTNakamuraANagataTExtensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogsNucleic Acid Ther201222530631522888777
  • van Roon-MomWMAartsma-RusAOverview on applications of antisense-mediated exon skippingMethods Mol Biol2012867799622454056
  • SalehAFArzumanovAAGaitMJOverview of alternative oligonucleotide chemistries for exon skippingMethods Mol Biol201286736537822454073
  • DouglasAGWoodMJSplicing therapy for neuromuscular diseaseMol Cell Neurosci20135616918523631896
  • FosterHPopplewellLDicksonGGenetic therapeutic approaches for Duchenne muscular dystrophyHum Gene Ther201223767668722647146
  • Aartsma-RusAAntisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophyRNA Biol20107445346120523110
  • Arechavala-GomezaVAnthonyKMorganJMuntoniFAntisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challengesCurr Gene Ther201212315216022533380
  • RocaXKrainerAREperonICPick one, but be quick: 5′ splice sites and the problems of too many choicesGenes Dev201327212914423348838
  • WieringaBMeyerFReiserJWeissmannCUnusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit beta-globin geneNature1983301589538436296682
  • BusslingerMMoschonasNFlavellRABeta + thalassemia: aberrant splicing results from a single point mutation in an intronCell1981272 Pt 12892986895866
  • DominskiZKoleRRestoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotidesProc Natl Acad Sci U S A19939018867386778378346
  • SvastiSSuwanmaneeTFucharoenSRNA repair restores hemoglobin expression in IVS2-654 thalassemic miceProc Natl Acad Sci U S A200910641205121019164558
  • Cavazzana-CalvoMPayenENegreOTransfusion independence and HMGA2 activation after gene therapy of human beta-thalassaemiaNature2010467731331832220844535
  • BoedaBEl-AmraouiABahloulAMyosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundleEMBO J200221246689669912485990
  • BahloulAMichelVHardelinJPCadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipidsHum Mol Genet201019183557356520639393
  • LentzJSavasSNgSSAthasGDeiningerPKeatsBThe USH1C 216G–>A splice-site mutation results in a 35-base-pair deletionHum Genet2005116322522715578223
  • LentzJJJodelkaFMHinrichAJRescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafnessNat Med201319334535023380860
  • PennisiEWhy do humans have so few genes?Science200530957318015994526
  • JohnsonJMCastleJGarrett-EngelePGenome-wide survey of human alternative pre-mRNA splicing with exon junction microarraysScience200330256532141214414684825
  • StoilovPDaoudRNaylerOStammSHuman tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNAHum Mol Genet200413550952414709600
  • ErikssonMBrownWTGordonLBRecurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndromeNature2003423693729329812714972
  • HennekamRCHutchinson-Gilford progeria syndrome: review of the phenotypeAm J Med Genet A2006140232603262416838330
  • GruenbaumYMargalitAGoldmanRDShumakerDKWilsonKLThe nuclear lamina comes of ageNat Rev Mol Cell Biol200561213115688064
  • ScaffidiPMisteliTReversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndromeNat Med200511444044515750600
  • OsorioFGNavarroCLCadinanosJSplicing-directed therapy in a new mouse model of human accelerated agingSci Transl Med20113106106ra107
  • ZammarchiFdeSEBournazouEAntitumorigenic potential of STAT3 alternative splicing modulationProc Natl Acad Sci U S A201110843177791778422006329
  • MaquatLENonsense-mediated mRNA decay: splicing, translation and mRNP dynamicsNat Rev Mol Cell Biol200452899915040442
  • DraperBWMorcosPAKimmelCBInhibition of zebrafish fgf8 pre-mRNA splicing with morpholino oligos: a quantifiable method for gene knockdownGenesis200130315415611477696
  • McManusMTSharpPAGene silencing in mammals by small interfering RNAsNat Rev Genet200231073774712360232
  • GrunwellerAWyszkoEBieberBJahnelRErdmannVAKurreckJComparison of different antisense strategies in mammalian cells using locked nucleic acids, 2′-O-methyl RNA, phosphorothioates and small interfering RNANucleic Acids Res200331123185319312799446
  • McCaffreyAPMeuseLKarimiMContagCHKayMAA potent and specific morpholino antisense inhibitor of hepatitis C translation in miceHepatology200338250350812883495
  • MarksDThorogoodMNeilHAHumphriesSEA review on the diagnosis, natural history, and treatment of familial hypercholesterolaemiaAtherosclerosis2003168111412732381
  • ZimmermannTSLeeACAkincARNAi-mediated gene silencing in non-human primatesNature2006441708911111416565705
  • RaalFJSantosRDBlomDJMipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trialLancet20103759719998100620227758
  • SoutschekJAkincABramlageBTherapeutic silencing of an endogenous gene by systemic administration of modified siRNAsNature2004432701417317815538359
  • CuchelMMeagherEAdu ToitTHEfficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 studyLancet20133819860404623122768
  • KhooBRocaXChewSLKrainerARAntisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOBBMC Mol Biol20078317233885
  • DistererPAl-ShawiREllmerichSExon skipping of hepatic APOB pre-mRNA with splice-switching oligonucleotides reduces LDL cholesterol in vivoMol Ther201321360260923319054
  • KolkmanJAStemmerWPDirected evolution of proteins by exon shufflingNat Biotechnol200119542342811329010
  • EagleMBaudouinSVChandlerCGiddingsDRBullockRBushbyKSurvival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilationNeuromuscul Disord2002121092692912467747
  • MuntoniFTorelliSFerliniADystrophin and mutations: one gene, several proteins, multiple phenotypesLancet Neurol200321273174014636778
  • KinaliMArechavala-GomezaVFengLLocal restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyLancet Neurol200981091892819713152
  • van DeutekomJCJansonAAGinjaarIBLocal dystrophin restoration with antisense oligonucleotide PRO051N Engl J Med2007357262677268618160687
  • MendellJRRodino-KlapacLRSahenkZEteplirsen for the treatment of Duchenne muscular dystrophyAnn Neurol201374563764723907995
  • Aartsma-RusADystrophin analysis in clinical trialsJ Neuromuscul Dis201414153
  • LefebvreSBurglenLReboulletSIdentification and characterization of a spinal muscular atrophy-determining geneCell19958011551657813012
  • MonaniURLorsonCLParsonsDWA single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2Hum Mol Genet1999871177118310369862
  • RigoFChunSJNorrisDAPharmacology of a central nervous system delivered 2’-o-methoxyethyl-modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primatesJ Pharmacol Exp Ther20143501465524784568
  • PassiniMABuJRichardsAMAntisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophySci Transl Med201137272ra18
  • HuaYVickersTAOkunolaHLBennettCFKrainerARAntisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic miceAm J Hum Genet200882483484818371932
  • HuaYVickersTABakerBFBennettCFKrainerAREnhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exonPLoS Biol200754e7317355180
  • Aartsma-RusAAntisense-mediated exon skipping: networking to meet opportunities and to overcome challengesNucleic Acid Ther20142411324506778
  • Aartsma-RusAFerliniAGoemansNTranslational and regulatory challenges for exon skipping therapiesHum Gene Ther2014251088589225184444
  • MuntoniFMeeting Steering Committee and TREAT-NMD NetworkThe development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009Neuromuscul Disord201020535536220347306
  • Arechavala-GomezaVKinaliMFengLRevertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trialsNeuromuscul Disord201020529530120395141
  • Arechavala-GomezaVKinaliMFengLImmunohistological intensity measurements as a tool to assess sarcolemma-associated protein expressionNeuropathol Appl Neurobiol201036426527420002311
  • TaylorLEKaminohYJRodeschCKFlaniganKMQuantification of dystrophin immunofluorescence in dystrophinopathy muscle specimensNeuropathol Appl Neurobiol201238659160122243335
  • AnthonyKArechavala-GomezaVTaylorLEDystrophin quantification: Biological and translational researcher implicationsNeurology Epub20141029