Publications - Exon skipping

On this page all publications of research work done by the DMD group of Annemieke Aartsma-Rus in Leiden are mentioned by year. Each publication has a link to the abstract and the full version of the article.

2022

Chey YCJ, Arudkumar J, Aartsma-Rus A, Adikusuma F, Thomas PQ. CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies. WIREs Mech Dis. 2022 Jul 31:e1580.
Abstract Full text

Alqallaf A, Engelbeen S, Palo A, Cutrupi F, Tanganyika-de Winter C, Plomp J, Vaiyapuri S, Aartsma-Rus A, Patel K, van Putten M. The therapeutic potential of soluble activin type IIB receptor treatment in a limb girdle muscular dystrophy type 2D mouse model. Neuromuscul Disord. 2022 May;32(5):419-435.
Abstract Full text

Goossens R, Aartsma-Rus A. In Vitro Delivery of PMOs in Myoblasts by Electroporation. Methods Mol Biol. 2022;2434:191-205.
Abstract Full text

2021

Evéquoz D, Verhaart IEC, van de Vijver D, Renner W, Aartsma-Rus A, Leumann CJ. 7′,5′-alpha-bicyclo-DNA: new chemistry for oligonucleotide exon splicing modulation therapy. Nuclei Acids Res. 2021 Nov 26;gkab1097.
Abstract Full text

Synofzik M, van Roon-Mom WMC, Marckmann G, van Duyvenvoorde H, Graessner H, Schüle R, Aartsma-Rus A. Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives. Nuclei Acid Ther. 2021 Sep 29.
Abstract Full text

Tsonaka R, Seyer A, Aartsma-Rus A, Spitali P. Plasma lipidomic analysis shows a disease progression signature in mdx mice. Sci Rep. 2021 June 21;11(1):12993.
Abstract Full text

Marchal GA, van Putten M, Verkerk AO, Casini S, Putker K, van Amersfoorth SCM, Aartsma-Rus A, Lodder EM, Remme CA. Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model. Sci Rep. 2021 May 7;11(1):9779.
Abstract Full text

Hammond SM, Aartsma-Rus A, Alves S, Borgos SE, Buijsen RAM, Collin RWJ, Covello G, Denti MA, Desviat LR, Echevarría L, Foged C, Gaina G, Garanto A, Goyenvalle AT, Guzowska M, Holodnuka I, Jones DR, Krause S, Lehto T, Montolio M, Van Roon-Mom W, Arechavala-Gomeza V. Delivery of oligonucleotide-based therapeutics: challenges and opportunities. EMBO Mol Med. 2021 Apr 9;13(4):e13243.
Abstract Full text

Signorelli M, Ebrahimpoor M, Veth O, Hettne K, Verwey N, García-Rodríguez R, Tanganyika-deWinter CL, Lopez Hernandez LB, Escobar Cedillo R, Gómez Díaz B, Magnusson OT, Mei H, Tsonaka R, Aartsma-Rus A, Spitali P. Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients. EMBO Mol Med. 2021 Apr 9;13(4):e13328.
Abstract Full text

Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021 Feb 18;7(1):13.
Abstract Full text

Engelbeen S, Aartsma-Rus A, Koopmans B, Loos M, van Putten M. Assessment of Behavioral Characteristics With Procedures of Minimal Human Interference in the mdx Mouse Model for Duchenne Muscular Dystrophy. Front Behav Neurosci. 2021 Jan 20;14:629043.
Abstract Full text

2020

Yavas A, Weij R, van Putten M, Kourkouta E, Beekman C, Puoliväli J, Bragge T, Ahtoniemi T, Knijnenburg J, Hoogenboom ME, Ariyurek Y, Aartsma-Rus A, van Deutekom J, Datson N. Detailed genetic and functional analysis of the hDMDdel52/mdx mouse model. PLoS One. 2020 Dec 23;15(12):e0244215.
Abstract Full text

Hiller M, Geissler M, Janssen G, van Veelen P, Aartsma-Rus A, Spitali P. The mRNA Binding Proteome of Proliferating and Differentiated Muscle Cells. Genomics Proteomics Bioinformatics. 2020 Dec 16:S1672-0229(20)30134-0.
Abstract Full text

Schneider AE, Aartsma-Rus A. Developments in reading frame restoring therapy approaches for Duchenne muscular dystrophy. Expert Opin Biol Ther. 2021 Mar;21(3):343-359.
Abstract Full text

Verhaart IEC, Cappellari O, Tanganyika-de Winter CL, Plomp JJ, Nnorom S, Wells KE, Hildyard JCW, Bull D, Aartsma-Rus A, Wells DJ. Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2020 Oct 5.
Abstract Full text

Lyu P, Yoo KW, Yadav MK, Atala A, Aartsma-Rus A, Putten MV, Duan D, Lu B. Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay. PLoS One. 2020 Sep 24;15(9).
Abstract Full text

Passarelli C, Selvatici R, Carrieri A, Romana Di Raimo F, Falcarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D’Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, ‘t Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Front Genet. 2020 Jul 3;11:605.
Abstract Full text

García-Rodriguez R, Hiller M, Jiménez-Gracia L, van der Pal Z, Balog J, Adamzek K, Aartsma-Rus A, Spitali P. Premature termination codons in the DMD gene cause reduced local mRNA synthesis. Proc Natl Acad Sci U S A. 2020 Jul 14;117(28):16456-16464.
Abstract Full text

Strandberg K, Ayoglu B, Roos A, Reza M, Niks E, Signorelli M, Fasterius E, Pontén F, Lochmüller H, Domingos J, Ala P, Muntoni F, Aartsma-Rus A, Spitali P, Nilsson P, Al-Khalili Szigyarto C. Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. J Neuromuscul Dis. 2020;7(3):231-246.
Abstract Full text

Krishan VS, Aartsma-Rus A, Overzier M, Lutz C, Bogdanik L, Grounds MD. Implications of increased S100β and Tau5 proteins in dystrophic nerves of two mdx mouse models for Duchenne muscular dystrophy. Mol Cell Neurosci. 2020 Jun;105:103484.
Abstract Full text

Tsonaka R, Signorelli M, Sabir E, Seyer A, Hettne K, Aartsma-Rus A, Spitali P. Longitudinal metabolic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models. Hum Mol Genet. 2020 Mar 27;29(5):745-755.
Abstract Full text

Hellebrekers DMJ, Doorenweerd N, Sweere DJJ, van Kuijk SMJ, Aartsma-Rus AM, Klinkenberg S, Vles JSH, Hendriksen JGM. Longitudinal follow-up of verbal span and processing speeds in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2020 Mar;25:120-126.
Abstract Full text

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos, A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP, Koeks Z, Suchiman HE, Cirak S, Scoto M, Reza M, ‘t Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur J Hum Genet. 2020 Jun;28(6):815-825.
Abstract Full text

Signorelli M, Ayoglu B, Johansson C, Lochmüller H, Straub V, Muntoni F, Niks E, Tsonaka R, Persson A, Aartsma-Rus A, Nilsson P, Al-Khalili Szigyarto C, Spitali P. Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2020 Apr;11(2):505-517.
Abstract Full text

Verwey N, Gazzoli I, Krause S, Mamchaoui K, Mouly V, Aartsma-Rus A. Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells. Nucleic Acid Ther. 2020 Apr;30(2):71-79.
Abstract Full text

van Westering TLE, Lomonosova Y, Coenen-Stass AML, Betts CA, Bhomra A, Hulsker M, Clark LE, McClorey G, Aartsma-Rus A, van Putten M, Wood MJA, Roberts TC. Uniform sarcolemmal dystrophin expression is required to prevent extracellular microRNA release and improve dystrophic pathology. J Cachexia Sarcopenia Muscle. 2020 Apr;11(2)578-593.
Abstract Full text

2019

Patel AM, Wierda K, Thorrez L, van Putten M, De Smedt J, Ribeiro L, Tricot T, Gajjar M, Duelen R, Van Damme P, De Waele L, Goemans N, Tanganyika-de Winter C, Costamagna D, Aartsma-Rus A, van Duyvenvoorde H, Sampaolesi M, Buyse GM, Verfaillie CM. Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes. Transl Psychiatry. 2019 Aug 21; 9(1): 200.
Abstract Full text

Verhaart IEC, Putker K, van de Vijver D, Tanganyika-de Winter CL, Pasteuning-Vuhman S, Plomp JJ, Aartsma-Rus AM, van Putten M. Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F. PLoS One. 2019 Aug 20; 14(8).
Abstract Full text

Verhaart IEC, Johnson A, Thakrar S, Vroom E, De Angelis F, Muntoni F, Aartsma-Rus AM, Niks EH. Muscle biopsies in clinical trials for Duchenne muscular dystrophy – Patients’ and caregivers’ perspective. Neuromuscul Disord. 2019 Aug; 29(8): 576-584.
Abstract Full text

Verhaart IEC, Aartsma-Rus A. Therapeutic developments for Duchenne muscular dystrophy. Nat Rev Neurol. 2019 May 30 (review paper).
Abstract Full text

Verhaart IEC, van de Vijver D, Boertje-van der Meulen JW, Putker K, Adamzek K, Aartsma-Rus A, van Putten M. A modified diet does not ameliorate muscle pathology in a mouse model for Duchenne muscular dystrophy. PLoS One. 2019 Apr;14(4).
Abstract Full text

van Putten M, Putker K, Overzier M, Adamzek WA, Pasteuning-Vuhman S, Plomp JJ, Aartsma-Rus A. Natural disease history of the D2-mdx mouse model for Duchenne muscular dystrophy. FASEB J. 2019 Apr(33).
Abstract Full text

van Putten M, Tanganyika-de Winter C, Bosgra S, Aartsma-Rus A. Nonclinical Exon Skipping Studies with 2′-O-Methyl Phosphorothioate Antisense Oligonucleotides in mdx and mdx-utrn-/- Mice Inspired by Clinical Trial Results. Nucleic Acid Ther. 2019 Apr;29(2):92-103.
Abstract Full text

2018

Kogelman B, Putker K, Hulsker M, Tanganyika-de Winter C, van der Weerd L, Aartsma-Rus A, van Putten M.Voluntary exercise improves muscle function and does not exacerbate muscle and heart pathology in aged Duchenne muscular dystrophy mice. J Mol Cell Cardiol. 2018 Dec;125:29-38.
Abstract Full text

Hiller M, Falzarano MS, Garcia-Jimenez I, Sardone V, Verheul RC, Popplewell L, Anthony K, Ruiz-Del-Yerro E, Osman H, Goeman JJ, Mamchaoui K, Dickson G, Ferlini A, Muntoni F, Aartsma-Rus A, Arechavala-Gomeza V, Datson NA5, Spitali P. A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. PLoS One. 2018 Oct 2;13(10).
Abstract Full text

Gordish-Dressman H, Willmann R, Dalle Pazze L, Kreibich A, van Putten M, Heydemann A, Bogdanik L, Lutz C, Davies K, Demonbreun AR, Duan D, Elsey D, Fukada SI, Girgenrath M, Patrick Gonzalez J, Grounds MD, Nichols A, Partridge T, Passini M, Sanarica F, Schnell FJ, Wells DJ, Yokota T, Young CS, Zhong Z, Spurney C, Spencer M, De Luca A, Nagaraju K, Aartsma-Rus A. “Of Mice and Measures”: A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic. J Neuromuscul Dis. 2018;5(4):407-417.
Abstract Full text

Hiller M, Spitali P, Datson N, Aartsma-Rus A. Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice. Methods Mol Biol. 2018;1828:249-262.
Abstract Full text

Pasteuning-Vuhman S, Putker K, Tanganyika-de Winter CL, Boertje-van der Meulen JW, van Vliet L, Overzier M, Plomp JJ, Aartsma-Rus A, van Putten M. Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. PLoS One. 2018 May 15;13(5).
Abstract Full text

Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A. Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies. J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726.
Abstract Full text

van der Pijl EM, van Putten M, Niks EH, Verschuuren JJGM, Aartsma-Rus A, Plomp JJ. Low dystrophin levels are insufficient to normalize the neuromuscular synaptic abnormalities of mdx mice. Neuromuscul Disord. 2018 May;28(5):427-442.
Abstract Full text

Kogelman B, Khmelinskii A, Verhaart I, Vliet LV, Bink DI, Aartsma-Rus A, Putten MV, Weerd LV. Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy. PLoS One 2018 Mar 30;13(3).
Abstract Full text

Veltrop M, van Vliet L, Hulsker M, Claassens J, Brouwers C, Breukel C, van der Kaa J, Linssen MM, den Dunnen JT, Verbeek S, Aartsma-Rus A, van Putten M. A dystrophic Duchenne mouse model for testing human antisense oligonucleotides. PLoS One 2018 21;13(2).
Abstract Full text

Spitali P, Hettne K, Tsonaka R, Sabir E, Seyer A, Hemerik JBA, Goeman JJ, Picillo E, Ergoli M, Politano L, Aartsma-Rus A. Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy. J Cell Moll Med 2018 Apr;22(4):2442-2448.
Abstract Full text

van Putten M, Aartsma-Rus A, Grounds MD, Kornegay JN, Mayhew A, Gillingwater TH, Takeda S, Rüegg MA, De Luca A, Nagaraju K, Willmann R. CUpdate on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands. J Neuromuscul Dis. 2018;5(1):29-34.
Abstract Full text

2017

Jirka SMG, ‘t Hoen PAC, Diaz Parillas V, Tanganyika-de Winter CL, Verheul RC, Aguilera B, de Visser PC, Aartsma-Rus AM. Cyclic Peptides to Improve Delivery and Exon Skipping of Antisense Oligonucleotides in a Mouse Model for Duchenne Muscular Dystrophy. Mol Ther 2017 Oct 12. pii: S1525-0016(17) 30520-8.
Abstract Full text

Doorenweerd N, Mahfouz A, van Putten M, Kaliyaperumal R, T’ Hoen PAC, Hendriksen JGM, Aartsma-Rus AM, Verschuuren JJGM, Niks EH, Reinders MJT, Kan HE, Lelieveldt BPF. Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy. Sci Rep 2017 Oct 3;7(1): 12575.
Abstract Full text

Pasteuning-Vuhman S, Putker K, Tanganyika-de Winter CL, Boertje-van der Meulen JW, van Vliet L, Overzier M, Plomp JJ, Aartsma-Rus A, van Putten M. Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F. PLoS One 2017 Aug 10; 12(8): e0182704.
Abstract Full text

Aartsma-Rus A, Straub V, Hemmings R, Haas M, Schlosser-Weber G, Stoyanova-Beninska V, Mercuri E, Muntoni F, Sepodes B, Vroom E, Balabanov P. Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues. Nucleic Acid Ther 2017 Aug 10.
Abstract Full text

Pasteuning-Vuhman S, Boertje-van der Meulen JW, van Putten M, Overzier M, Ten Dijke P, Kiełbasa SM, Arindrarto W, Wolterbeek R, Lezhnina KV, Ozerov IV, Aliper AM, Hoogaars WM, Aartsma-Rus A, Loomans CJ. New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration. FASEB J 2017 Jan; 31(1): 238-255.
Abstract Full text

2016

Hulsker M, Verhaart I, van Vliet L, Aartsma-Rus A, van Putten M. Accurate Dystrophin Quantification in Mouse Tissue; Identification of New and Evaluation of Existing Methods. J Neuromuscul Dis 2016 Mar 3; 3(1): 77-90.
Abstract Full text

Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project, Spitali P⁴, Aartsma-Rus A⁵, et al. Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. Am J Hum Genet 2016 Nov 3; 99(5): 1163-1171.
Abstract Full text

Lucassen EA, Coomans CP, van Putten M, de Kreij SR, van Genugten JH, Sutorius RP, de Rooij KE, van der Velde M, Verhoeve SL, Smit JW, Löwik CW, Smits HH, Guigas B, Aartsma-Rus AM, Meijer JH. Environmental 24-hr Cycles Are Essential for Health. Curr Biol 2016 Jul 25; 26(14): 1843-53.
Abstract Full text

Remmelink E, Aartsma-Rus A, Smit AB, Verhage M, Loos M, van Putten M. Cognitive flexibility deficits in a mouse model for the absence of full-length dystrophin. Genes Brain Behav 2016 Jul; 15(6): 558-67.
Abstract Full text

van der Pijl EM, van Putten M, Niks EH, Verschuuren JJ, Aartsma-Rus A, Plomp JJ. Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models. Eur J Neurosci 2016 Jun; 43(12): 1623-35.
Abstract Full text

Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet 2016 Mar; 53(3): 145-51.
Abstract Full text

Oonk S, Spitali P, Hiller M, Switzar L, Dalebout H, Calissano M, Lochmüller H, Aartsma-Rus A, ‘t Hoen PA, van der Burgt YE. Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients. Proteomics Clin Appl 2016 Mar; 10(3): 290-9.
Abstract Full text

Gazzoli I, Pulyakhina I, Verwey NE, Ariyurek Y, Laros JF, ‘t Hoen PA, Aartsma-Rus A. Non-sequential and multi-step splicing of the dystrophin transcript. RNA Biol. 2016;13(3):290-305.
Abstract Full text

2015

Jirka SM, Tanganyika-de Winter CL, Boertje-van der Meulen JW, van Putten M, Hiller M, Vermue R, de Visser PC, Aartsma-Rus A. Evaluation of 2′-Deoxy-2′-fluoro Antisense Oligonucleotides for Exon Skipping in Duchenne Muscular Dystrophy. Mol Ther Nucleic Acids 2015 Dec 1; 4: e265.
Abstract Full text

Kinnett K, Rodger S, Vroom E, Furlong P, Aartsma-Rus A, Bushby K. Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy. PLoS Curr 2015 Aug 7; 7.
Abstract Full text

Jirka S, Aartsma-Rus A. An update on RNA-targeting therapies for neuromuscular disorders. Curr Opin Neurol 2015 Oct; 28(5): 515-21.
Abstract Full text

Aartsma-Rus A, Spitali P. Circulating Biomarkers for Duchenne Muscular Dystrophy. J Neuromuscul Dis 2015 Jul 22; 2(s2): S49-S58.
Abstract Full text

Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet 2015; 16: 281-308.
Abstract Full text

van den Bergen JC, Wokke BH, Hulsker MA, Verschuuren JJ, Aartsma-Rus AM. Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity. Neuromuscul Disord 2015 Mar; 25(3): 231-7.
Abstract Full text

2014

van Putten M, Young C, van den Berg S, Pronk A, Hulsker M, Karnaoukh TG, Vermue R, van Dijk KW, de Kimpe S, Aartsma-Rus A. Preclinical studies on intestinal administration of antisense oligonucleotides as a model for oral delivery for treatment of duchenne muscular dystrophy. Mol Ther Nucleic Acids 2014 Nov 18; 3: e211.
Abstract Full text

Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, ‘t Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med 2014 Jun 11; 6(7): 918-36.
Abstract Full text

Aartsma-Rus A and van Putten M. Assessing functional performance in the mdx mouse model. J Vis Exp 2014; (85).
Abstract Full text

Kemaladewi DU, Pasteuning S, van der Meulen JW, van Heiningen SH, van Ommen GJ, Ten Dijke P, Aartsma-Rus A, ‘t Hoen PA, Hoogaars WM. Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor. Mol Ther Nucleic Acids 2014; 3: e156.
Abstract Full text

Wokke BH, van den Bergen JC, Versluis MJ, Niks EH, Milles J, Webb AG, van Zwet EW, Aartsma-Rus A, Verschuuren JJ and Kan HE. Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy. Neuromuscul Disord 2014; 325(1): 50-5.
Abstract Full text

Verhaart IE, van Vliet-van den Dool L, Sipkens JA, de Kimpe SJ, Kolfschoten IG, van Deutekom JC, Liefaard L, Ridings JE, Hood SR and Aartsma-Rus A. The Dynamics of Compound, Transcript, and Protein Effects After Treatment With 2OMePS Antisense Oligonucleotides in mdx Mice. Mol Ther Nucleic Acids 2014; 18: e148.
Abstract Full text

Aartsma-Rus A. Antisense-mediated exon skipping: networking to meet opportunities and to overcome challenges. Nucleic Acid Ther 2014; 24:1-3.
Abstract Full text

Veltrop M and Aartsma-Rus A. Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases. Exp Cell Res 2014; 184(4): 1119-31.
Abstract Full text

Raz V, Buijze H, Raz Y, Verwey N, Anvar SY, Aartsma-Rus A and van der Maarel SM. A Novel Feed-Forward Loop between ARIH2 E3-Ligase and PABPN1 Regulates Aging-Associated Muscle Degeneration. Am J Pathol 2014; 184(4): 1119-31.
Abstract Full text

van Putten M, van der Pijl EM, Hulsker M, Verhaart IE, Nadarajah VD, van der Weerd L and Aartsma-Rus A. Low dystrophin levels in heart can delay heart failure in mdx mice. J Mol Cell Cardiol 2014; 69: 17-23.
Abstract Full text

Martin FC, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmüller H, Niks EH, Verschuuren JJ, Aartsma-Rus A, Deelder AM, van der Burgt YE, ‘t Hoen PA. Fibronectin is a serum biomarker for Duchenne muscular dystrophy. Proteomics Clin Appl 2014; 8(3-4): 269-78.
Abstract Full text

Karkampouna S, Kruithof BP, Kloen P, Obdeijn MC, van der Laan AM, Tanke HJ, Kemaladewi DU, Hoogaars WM, ‘t Hoen PA, Aartsma-Rus A, Clark IM, Ten Dijke P, Goumans MJ, Kruithof-de Julio M. Novel Ex Vivo Culture Method for the Study of Dupuytren’s Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides. Mol Ther Nucleic Acids 2014; 3: e142.
Abstract Full text

Jirka SM, Heemskerk H, Tanganyika-de Winter CL, Muilwijk D, Pang KH, de Visser PC, Janson A, Karnaoukh TG, Vermue R, ‘t Hoen PA, van Deutekom JC, Aguilera B and Aartsma-Rus A. Peptide Conjugation of 2′-O-methyl Phosphorothioate Antisense Oligonucleotides Enhances Cardiac Uptake and Exon Skipping in mdx Mice. Nucleic Acid Ther 2014; 24: 25-36.
Abstract Full text

van den Bergen JC, Wokke BH, Janson AA, van Duinen SG, Hulsker MA, Ginjaar HB, van Deutekom JC, Aartsma-Rus A, Kan HE, Verschuuren JJ. Dystrophin levels and clinical severity in Becker muscular dystrophy patients. J Neurol Neurosurg Psychiatry 2014 Jul; 85(7): 747-53.
Abstract Full text

Doorenweerd N, Straathof CS, Dumas EM, Spitali P, et al. Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy. Ann Neurol 2014 Jul 10; 76(3): 403-11.
Abstract Full text

van den Bergen JC, Schade van Westrum SM, Dekker L, van der Kooi AJ, de Visser M, Wokke BH, Straathof CS, Hulsker MA, Aartsma-Rus A, Verschuuren JJ, Ginjaar HB. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy. J Neurol Neurosurg Psychiatry 2014 Jan; 85(1): 92-8.
Abstract Full text

2013

Spitali P, Grumati P, Hiller M, Chrisam M, Aartsma-Rus A, Bonaldo P. Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice. PLoS Curr 2013 Nov 22; 5.
Abstract Full text

Veltrop M, van der Kaa J, Claassens J, van Vliet L, Verbeek S, Aartsma-Rus A. Generation of embryonic stem cells and mice for duchenne research. PLoS Curr 2013 Sep 10; 5.
Abstract Full text

Spitali P, van den Bergen JC, Verhaart IEC, Wokke B, Janson AM, van den Eijnde R, den Dunnen JT, Laros JF, Verschuuren JJGM, ‘t Hoen PAC and Aartsma-Rus A. DMD transcript imbalance determines dystrophin levels. FASEB J 2013 Dec; 27(12): 4909-16.
Abstract Full text

Aartsma-Rus A, Van Ommen GJ, Kaplan JC. Innovating therapies for muscle diseases. Handb Clin Neurol 2013; 113: 1497-501.
Abstract Full text

van Putten M, Hulsker M, Young C, Nadarajah VD, Heemskerk H, van der Weerd L, ‘t Hoen PA, van Ommen GJ, Aartsma-Rus AM. Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice. FASEB J 2013 Jun; 27(6): 2484-95.
Abstract Full text

van Ommen GJ, Aartsma-Rus A. Advances in therapeutic RNA-targeting. N Biotechnol 2013 Mar 25; 30(3): 299-301.
Abstract Full text

2012

Tanganyika-de Winter CL, Heemskerk H, Karnaoukh TG, van Putten M, de Kimpe SJ, van Deutekom J, Aartsma-Rus A. Long-term Exon Skipping Studies With 2′-O-Methyl Phosphorothioate Antisense Oligonucleotides in Dystrophic Mouse Models. Mol Ther Nucleic Acids 2012 Sep 4; 1: e44.
Abstract Full text

Verhaart IE, Aartsma-Rus A. The effect of 6-thioguanine on alternative splicing and antisense-mediated exon skipping treatment for duchenne muscular dystrophy. PLoS Curr 2012 Dec 12; 4.
Abstract Full text

Verhaart IE, Aartsma-Rus A. Gene therapy for Duchenne muscular dystrophy. Curr Opin Neurol 2012 Oct; 25(5): 588-96.
Abstract Full text

van Putten M, Hulsker M, Nadarajah VD, van Heiningen SH, van Huizen E, van Iterson M, Admiraal P, Messemaker T, den Dunnen JT, ‘t Hoen PA, Aartsma-Rus A. The effects of low levels of dystrophin on mouse muscle function and pathology. PLoS One 2012; 7(2): e31937.
Abstract Full text

van Putten M, Kumar D, Hulsker M, Hoogaars WM, Plomp JJ, van Opstal A, van Iterson M, Admiraal P, van Ommen GJ, ‘t Hoen PA, Aartsma-Rus A. Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains. Neuromuscular disorders 2012 May; 22(5): 406-17.
Abstract Full article

Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, et al. The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5′ X-linked dilated cardiomyopathy. BMC Med Genet 2012 Mar 28; 13: 20.
Abstract Full text

Verhaart IE, Heemskerk H, Karnaoukh TG, Kolfschoten IG, Vroon A, van Ommen GJ, van Deutekom JC, Aartsma-Rus A. Prednisolone treatment does not interfere with 2′-O-methyl phosphorothioate antisense-mediated exon skipping in Duchenne muscular dystrophy. Hum Gene Ther 2012 Mar; 23(3): 262-73.
Abstract Full text

Spitali P, Aartsma-Rus A. Progress in the development of splicing modulating therapies for human disease. Cell. 2012 Mar 16;148(6):1085-8 (Invited minireview).
Full text

2011

Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Lochmüller H, Ginjaar HB, Aartsma-Rus AM, van Ommen GJ, den Dunnen JT, ‘t Hoen PA. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord 2011 Aug; 21(8): 569-78.
Abstract Full text

Van Putten M and Aartsma-Rus A. Opportunities and challenges for the development of antisense treatment in neuromuscular disorders. Exp Opin Biol Ther 2011 April 22; 11(8): 1025-37.
Abstract Full text

Kemeladewi DU, Hoogaars WM, van Heiningen SH, Aartsma-Rus A, ten Dijke P and ’t Hoen PA. Dual exon skipping for myostatin and dystrophin for Duchenne muscular dystrophy. BMC Med Genomics 2011; 4: 36.
Abstract Full text

Pichavant C, Aartsma-Rus A, Clemens PR, et al. Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther 2011 May; 19(5): 830-40.
Abstract Full text

Goemans N, Tulinius M, van den Akker JT, Aartsma-Rus A and van Deutekom JCT. Systemic administration of PRO051 in Duchenne’s muscular dystrophy. N Engl J Med 2011; 364(16): 1513-22.
Abstract Full text

Shi ST, Hoogaars WM, De Gorter DJ, Van Heiningen SH, Kemaladewi DU, Aartsma-Rus A, Ten Dijke P and ‘t Hoen PAC. BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model. Neurobiol Dis 2010; 41(2): 353-60.
Abstract Full text

2010

Aartsma-Rus A, den Dunnen JT and van Ommen GJB. New insights in gene-derived therapies: the example of Duchenne Muscular Dystrophy. Annals of NY Acad Sci 2010; 1214: 199-212.
Abstract Full text

Aartsma-Rus A. Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy. RNA Biology 2010 Jul-Aug; 7(4): 453-61.
Abstract

Spitali P, Heemskerk JA, Vossen RHAM, Ferlini A, den Dunnen JT, ‘t Hoen PAC and Aartsma-Rus A. Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy. Lab Invest 2010; 90: 1396-402.
Abstract

Heemskerk JA, de Winter CL, van Kuik P, Aartsma-Rus A and van Deutekom JCT. Pre-clinical PK and PD Studies on 2’O-Methyl-Phosphorothioate RNA Antisense Oligonucleotides in the mdx mouse model. Mol Ther 2010 18: 1210-7.
Abstract Full text

Aartsma-Rus A, Houlleberghs H, van Deutekom JCT, van Ommen G-J and ‘t Hoen PAC. Exonic sequences provide better targets for antisense oligonucleotides than splice site sequences in the modulation of Duchenne muscular dystrophy splicing. Oligonucleotides 2010; 20: 69-77.
Abstract Full text

Van Putten M, Winter CL, van Roon-Mom W, van Ommen G-JB, ‘t Hoen PAC and Aartsma-Rus A. A 3 months mild functional test regime does not affect disease parameters in young mdx mice. Neuromuscular Disorders 2010; 20: 273-80.
Abstract Full text

Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A et al. Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. Neuromuscular Disorders 2010; 20: 251-4
Abstract Full text

Aartsma-Rus A, Singh KH, Fokkema IF, et al. Therapeutic exon skipping for dysferlinopathies? Eur J Hum Genet 2010 Aug; 18(8): 889-94.
Abstract Full text

Popplewell LJ, Adkin C, Arechavala-Gomeza V, Aartsma-Rus A et al. Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials. Neuromuscular Disorders 2010; 20: 102-110.
Abstract Full text

Aartsma-Rus A and van Ommen GJB. Progress in therapeutic antisense applications for neuromuscular disorders. European Journal of Human Genetics 2010; 18: 146-53.
Abstract Full text

Aartsma-Rus A and van Ommen GJB. Antisense-mediated exon skipping for Duchenne muscular dystrophy. In: Muscle Gene Therapy (Ed Duan, D), Springer New York Dordrecht Heidelberg London. (ISBN: 978-1-4419-1205-3).

2009

Spitali P, Rimessi P, Fabris M, et al. Exon skipping-mediated dystrophin reading frame restoration for small mutations. Hum Mutat 2009 Nov; 30(11): 1527-34.
Abstract Full text

Heemskerk H, de Winter CL, van Ommen GJ, van Deutekom JC, Aartsma-Rus A. Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy. Ann N Y Acad Sci 2009 Sep; 1175: 71-9.
Abstract Full text

Aartsma-Rus A, Fokkema I, Verschuuren J, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 2009 Mar; 30(3): 293-9.
Abstract Full text

Heemskerk HA, de Winter CL, de Kimpe SJ, van Kuik-Romeijn P, Heuvelmans N, Platenburg GJ, van Ommen GJ, van Deutekom JC, Aartsma-Rus A. In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med 2009 Mar; 11(3): 257-66.
Abstract

Aartsma-Rus A, van Vliet L, Hirschi M, et al. Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. Mol Ther 2009 Mar; 17(3): 548-53.
Abstract Full text

2008

van Vliet L, de Winter CL, van Deutekom JC, van Ommen GJ, Aartsma-Rus A. Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy. BMC Med Genet 2008 Dec; 9: 105.
Abstract Full text

2007

van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, van der Kooi AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJ. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357: 2677-89.
Abstract Full text

Arechavala-Gomeza V, Graham IR, Popplewell LJ, Adams AM, Aartsma-Rus A, et al. Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Hum Gene Ther 2007 Sep; 18(9): 798-810.
Abstract Full text

Aartsma-Rus A, van Ommen GJ. Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA 2007 Oct; 13(10): 1609-24.
Abstract Full text

Aartsma-Rus A, Janson AM, van Ommen G-J, et al. Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy. BMC Med Genet 2007; 8: 43.
Abstract Full text

2006

Aartsma-Rus A, Janson AA, Heemskerk JA, et al. Therapeutic modulation of DMD splicing by blocking exonic splicing enhancer sites with antisense oligonucleotides. Ann N Y Acad Sci 2006 Oct; 1082: 74-6.
Abstract Full text

White SJ, Aartsma-Rus A, Flanigan KM, et al. Duplications in the DMD gene. Hum mutat 2006 Sep; 27(9): 938-45.
Abstract Full Text

Aartsma-Rus A, van Deutekom JC, Fokkema IF,et al. Entries in the Leiden Duchenne muscular dystrophy mutation database; an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006; 34: 135-144.
Abstract Full text

Aartsma-Rus A, Kaman WE, Weij R, et al. Exploring the frontiers of therapeutic exon skipping for Duchenne Muscular Dystrophy by double targeting within one or multiple exons. Molecular Therapy 2006; 14: 401-407.
Abstract Full text

‘t Hoen PA, van der Wees CG, Aartsma-Rus A, et al. Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy. 2006 Apr; 7(3): 281-97.
Abstract Full text

2005

Aartsma-Rus A, de Winter CL, Janson AM, et al. Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites. Oligonucleotides 2005; 15: 284 -297.
Abstract Full text

2004

Bremmer-Bout M, Aartsma-Rus A, de Meijer EJ et al. Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther 2004; 10: 232-240.
Abstract Full text

Aartsma-Rus A, Kaman WE, Bremmer-Bout M et al. Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells. Gene Ther 2004; 11: 1391-1398.
Abstract Full text

Aartsma-Rus A, Janson AA, Kaman WE et al. Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet 2004; 74: 83-92.
Abstract Full text

2003

Aartsma-Rus A, Janson AA, Kaman WE et al. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet 2003; 12: 907-914.
Abstract Full text

2002

Aartsma-Rus A, Bremmer-Bout M, Janson A et al. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord 2002; 12 Suppl: S71-S77.
Abstract Full text

2001

van Deutekom JC, Bremmer-Bout M, Janson AA, Ginjaar IB, Baas F, den Dunnen JT, van Ommen GJ. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet 2001; 10: 1547-1554.
Abstract Full text