URMC / Labs / Thornton Lab / Publications Publications Thornton CAWang ECarrell EM (2017 Apr 01). Myotonic dystrophy: approach to therapy. Current opinion in genetics & development. Wagner SDStruck AJGupta RFarnsworth DRMahady AEEichinger KThornton CAWang ETBerglund JA (2016 Sep). Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy. PLoS genetics. Carrell STCarrell EMAuerbach DPandey SKBennett CFDirksen RTThornton CA (2016 Aug 13). Dmpk Gene Deletion or Antisense Knockdown Does Not Compromise Cardiac or Skeletal Muscle Function in Mice. Human molecular genetics. Burns TMSmith GAAllen JAAmato AAArnold WDBarohn RBenatar MBird SJBromberg MChahin NCiafaloni ECohen JACorse ACrum BADavid WSDimberg EDe Sousa EADonofrio PDDyck PJEngel AGEnsrud ERFerrante MFreimer MGable KLGibson SGilchrist JMGoldstein JMGooch CLGoodman BPGorelov DGospe SMGoyal NAGuidon ACGuptill JTGutmann LGutmann LGwathmey KHarati YHarper CMHehir MKHobson-Webb LDHoward JFJackson CEJohnson NJones SMJuel VCKaminski HJKaram CKennelly KDKhella SKhoury JKincaid JCKissel JTKolb NLacomis DLadha SLarriviere DLewis RALi YLitchy WJLogigian ELou JSMacGowen DJMaselli RMassey JMMauermann MLMathews KDMeriggioli MNMiller RGMoon JSMozaffar TNations SPNowak RJOstrow LWPascuzzi RMPeltier ARuzhansky KRichman DPRoss MARubin DIRussell JASachs GMSalajegheh MKSaperstein DSScelsa SSelcen DShaibani ASheih PBSilvestri NJSingleton JRSmith BESo YTSolorzano GSorenson EJSrinivasen JTavee JTawil RThaisetthawatkul PThornton CTrivedi JVernino SWang AKWebb TAWeiss MDWindebank AJWolfe GI (2015 Dec 10). Editorial by concerned physicians: Unintended effect of the Orphan Drug Act on the potential cost of 3,4-diaminopyridine. Muscle & nerve. Heatwole CJohnson NBode RDekdebrun JDilek NHilbert JELuebbe EMartens WMcDermott MPQuinn CRothrock NThornton CVickrey BGVictorson DMoxley RT (2015 Nov 18). Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2). Neurology. Pandey SKWheeler TMJustice SLKim AYounis HSGattis DJauvin DPuymirat JSwayze EEFreier SMBennett CFThornton CAMacLeod AR (2015 Nov). Identification and Characterization of Modified Antisense Oligonucleotides Targeting DMPK in Mice and Nonhuman Primates for the Treatment of Myotonic Dystrophy Type 1. The Journal of pharmacology and experimental therapeutics. Heatwole CBode RNicholas Johnson Dekdebrun JDilek NEichinger KHilbert JELogigian ELuebbe EMartens WMcDermott MPPandya SPuwanant ARothrock NThornton CVickrey BGVictorson DMoxley RT (2015 Jun 4). The myotonic dystrophy health index: Correlations with clinical tests and patient function. Muscle & nerve. Yadava RSFoff EPYu QGladman JTKim YKBhatt KSThornton CAZheng TSMahadevan MS (2015 Apr 01). TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy. Human molecular genetics. Wojtkowiak-Szlachcic ATaylor KStepniak-Konieczna ESznajder LJMykowska ASroka JThornton CASobczak K (2015 Mar 31). Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy. Nucleic acids research. Batra RCharizanis KManchanda MMohan ALi MFinn DJGoodwin MZhang CSobczak KThornton CASwanson MS (2014 Sep 24). Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease. Molecular cell. Thornton CA (2014 Aug). Myotonic Dystrophy. Neurologic clinics. Heatwole CBode RJohnson NDekdebrun JDilek NHeatwole MHilbert JELuebbe EMartens WMcdermott MPRothrock NThornton CVickrey BGVictorson DMoxley R (2014 Jun). Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure. Muscle & nerve. Hoskins JWOfori LOChen CZKumar ASobczak KNakamori MSouthall NPatnaik SMarugan JJZheng WAustin CPDisney MDMiller BLThornton CA (2014 Jun). Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects. Nucleic acids research. Nakamori MSobczak KPuwanant AWelle SEichinger KPandya SDekdebrun JHeatwole CRMcDermott MPChen TCline MTawil ROsborne RJWheeler TMSwanson MSMoxley RTThornton CA (2013 Dec). Splicing biomarkers of disease severity in myotonic dystrophy. Annals of neurology. Axford MMWang YHNakamori MZannis-Hadjopoulos MThornton CAPearson CE (2013 Dec). Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues. PLoS genetics. Coonrod LANakamori MWang WCarrell SHilton CLBodner MJSiboni RBDocter AGHaley MMThornton CABerglund JA (2013 Nov 15). Reducing levels of toxic RNA with small molecules. ACS chemical biology. Rzuczek SGGao YTang ZZThornton CAKodadek TDisney MD (2013 Oct 18). Features of modularly assembled compounds that impart bioactivity against an RNA target. ACS chemical biology. Sobczak KWheeler TMWang WThornton CA (2013 Feb). RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy. Molecular therapy : the journal of the American Society of Gene Therapy. Childs-Disney JLStepniak-Konieczna ETran TYildirim IPark HChen CZHoskins JSouthall NMarugan JJPatnaik SZheng WAustin CPSchatz GCSobczak KThornton CADisney MD (2013). Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. Nature communications. Childs-Disney JLParkesh RNakamori MThornton CADisney MD (2012 Dec 21). Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1. ACS chemical biology. Wheeler TMLeger AJPandey SKMacLeod ARNakamori MCheng SHWentworth BMBennett CFThornton CA (2012 Aug 2). Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature. Heatwole CBode RJohnson NQuinn CMartens WMcDermott MPRothrock NThornton CVickrey BVictorson DMoxley R (2012 Jul 24). Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology. Ofori LOHoskins JNakamori MThornton CAMiller BL (2012 Jul). From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy. Nucleic acids research. Childs-Disney JLHoskins JRzuczek SGThornton CADisney MD (2012 May 18). Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. ACS chemical biology. Tang ZZYarotskyy VWei LSobczak KNakamori MEichinger KMoxley RTDirksen RTThornton CA (2012 Mar 15). Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. Human molecular genetics. Parkesh RChilds-Disney JLNakamori MKumar AWang EWang THoskins JTran THousman DThornton CADisney MD (2012 Mar 14). Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching. Journal of the American Chemical Society. Hilbert JEKissel JTLuebbe EAMartens WBMcDermott MPSanders DBTawil RThornton CAMoxley RT (2012 Mar). If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemporary clinical trials. Chen CZSobczak KHoskins JSouthall NMarugan JJZheng WThornton CAAustin CP (2012 Feb). Two high-throughput screening assays for aberrant RNA-protein interactions in myotonic dystrophy type 1. Analytical and bioanalytical chemistry. Mankodi AWheeler TMShetty RSalceies KMBecher MWThornton CA (2012 Jan). Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy. Neurobiology of disease. Nakamori MGourdon GThornton CA (2011 Dec). Stabilization of expanded (CTG)•(CAG) repeats by antisense oligonucleotides. Molecular therapy : the journal of the American Society of Gene Therapy. Axford MMLópez-Castel ANakamori MThornton CAPearson CE (2011 Jul). Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues. Journal of medical genetics. López Castel ANakamori MThornton CAPearson CE (2011 Apr). Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats. Epigenetics : official journal of the DNA Methylation Society. Nakamori MPearson CEThornton CA (2011 Feb 1). Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats. Human molecular genetics. Heatwole CREichinger KJFriedman DIHilbert JEJackson CELogigian ELMartens WBMcDermott MPPandya SKQuinn CSmirnow AMThornton CAMoxley RT (2011 Jan). Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1. Archives of neurology. López Castel ANakamori MTomé SChitayat DGourdon GThornton CAPearson CE (2011 Jan 1). Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Human molecular genetics. Lueck JDRossi AEThornton CACampbell KPDirksen RT (2010 Dec). Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle. The Journal of general physiology. Nakamori MThornton C (2010 Jul). Epigenetic changes and non-coding expanded repeats. Neurobiology of disease. Logigian ELMartens WBMoxley RTMcDermott MPDilek NWiegner AWPearson ATBarbieri CAAnnis CLThornton CAMoxley RT (2010 May 4). Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. Logigian ELTwydell PDilek NMartens WBQuinn CWiegner AWHeatwole CRThornton CAMoxley RT (2010 Feb). Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1. Muscle & nerve. Du HCline MSOsborne RJTuttle DLClark TADonohue JPHall MPShiue LSwanson MSThornton CAAres M (2010 Feb). Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nature structural & molecular biology. Lee MMChilds-Disney JLPushechnikov AFrench JMSobczak KThornton CADisney MD (2009 Dec 2). Controlling the specificity of modularly assembled small molecules for RNA via ligand module spacing: targeting the RNAs that cause myotonic muscular dystrophy. Journal of the American Chemical Society. Mueller CMHilbert JEMartens WThornton CAMoxley RTGreene MH (2009 Dec). Hypothesis: neoplasms in myotonic dystrophy. Cancer causes & control : CCC. Warf MBNakamori MMatthys CMThornton CABerglund JA (2009 Nov 3). Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proceedings of the National Academy of Sciences of the United States of America. Nakamori MSobczak KMoxley RTThornton CA (2009 Nov). Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2. Neuromuscular disorders : NMD. Welle SBurgess KThornton CATawil R (2009 Oct). Relation between extent of myostatin depletion and muscle growth in mature mice. American journal of physiology. Endocrinology and metabolism. Mulders SAvan den Broek WJWheeler TMCroes HJvan Kuik-Romeijn Pde Kimpe SJFurling DPlatenburg GJGourdon GThornton CAWieringa BWansink DG (2009 Aug 18). Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. Proceedings of the National Academy of Sciences of the United States of America. Pushechnikov ALee MMChilds-Disney JLSobczak KFrench JMThornton CADisney MD (2009 Jul 22). Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3. Journal of the American Chemical Society. Wheeler TMSobczak KLueck JDOsborne RJLin XDirksen RTThornton CA (2009 Jul 17). Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science (New York, N.Y.). Osborne RJLin XWelle SSobczak KO'Rourke JRSwanson MSThornton CA (2009 Apr 15). Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Human molecular genetics. Gareiss PCSobczak KMcNaughton BRPalde PBThornton CAMiller BL (2008 Dec 3). Dynamic combinatorial selection of molecules capable of inhibiting the (CUG) repeat RNA-MBNL1 interaction in vitro: discovery of lead compounds targeting myotonic dystrophy (DM1). Journal of the American Chemical Society.