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• Abstract/Meeting Abstract

  ANTISENSE OLIGONUCLEOTIDES TO IMPROVE CFTR FUNCTION FOR PEOPLE WITH THE INTRON 9 5T POLYMORPHISM

  AREST CF, Oct 2019, In : Pediatric Pulmonology. 54, p. S217-S218 2 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract

• RESCUE OF CFTR FUNCTION IMPAIRED BY MUTATIONS IN EXON 15 IN CHILDREN WITH CYSTIC FIBROSIS

  AREST CF & WAERP, Sep 2018, In : Pediatric Pulmonology. 53, p. 224-224 1 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract

  15 Citations (Scopus)

• Treatment of Adult mdx Mice with Phosphorodiamidate Morpholino Oligomer Restores Cardiac Mitochondrial Energetics and Prevents the Dystrophic Cardiomyopathy

  Viola, H. M., Johnstone, V. P. A., Adams, A. M., Fletcher, S. & Hool, L. C., 3 Feb 2017, In : Biophysical Journal. 112, 3, p. 245A-245A 1 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract
• Article

  Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

  Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

  Research output: Contribution to journal › Article

  Open Access

  • Muscle Development
  • Muscular Diseases
  • Bardet-Biedl Syndrome
  • Muscles
  • Limb-girdle muscular dystrophy type 2H
  6 Citations (Scopus)

• Antisense oligonucleotide induction of progerin in human myogenic cells

  Luo, Y., Mitrpant, C., Adams, A., Johnsen, R., Fletcher, S., Mastaglia, F. & Wilton, S., 2014, In : PLoS One. 9, 6, p. 9pp

  Research output: Contribution to journal › Article

  Open Access

  • Lamin Type A
  • Antisense Oligonucleotides
  • Oligonucleotides
  • Exons
  • Progeria
  8 Citations (Scopus)

• Antisense suppression of donor splice site mutations in the dystrophin gene transcript

  Fletcher, S., Meloni, P., Johnsen, R., Wong, B. L., Muntoni, F. & Wilton, S., 2013, In : Molecular genetics & genomic medicine. 1, 3, p. 162-173

  Research output: Contribution to journal › Article

  Open Access
  9 Citations (Scopus)

• A platform for discovery of functional cell-penetrating peptides for efficient multi-cargo intracellular delivery

  Hoffmann, K., Milech, N., Juraja, S. M., Cunningham, P. T., Stone, S. R., Francis, R. W., Anastasas, M., Hall, C. M., Heinrich, T., Bogdawa, H. M., Winslow, S., Scobie, M. N., Dewhurst, R. E., Florez, L., Ong, F., Kerfoot, M., Champain, D., Adams, A. M., Fletcher, S., Viola, H. M. & 10 others, Hool, L. C., Connor, T., Longville, B. A. C., Tan, Y. F., Kroeger, K., Morath, V., Weiss, G. A., Skerra, A., Hopkins, R. M. & Watt, P. M., 1 Dec 2018, In : Scientific Reports. 8, 1, 12538.

  Research output: Contribution to journal › Article

  Open Access

  • Cell-Penetrating Peptides
  • Cytoplasm
  • Peptide Nucleic Acids
  • Bacterial Genomes
  • Cell Engineering
  24 Citations (Scopus)

• A splice intervention therapy for autosomal recessive juvenile parkinson’s disease arising from parkin mutations

  Li, D., Aung-Htut, M. T., Ham, K. A., Fletcher, S. & Wilton, S. D., 1 Oct 2020, In : International Journal of Molecular Sciences. 21, 19, p. 1-15 15 p., 7282.

  Research output: Contribution to journal › Article

  Open Access

  • Parkinson disease
  • deletion
  • mutations
  • Parkinsonian Disorders
  • Reading Frames

• Breakpoint junction features of seven DMD deletion mutations

  Keegan, N. P., Wilton, S. D. & Fletcher, S., 1 Dec 2019, In : Human Genome Variation. 6, 1, 39.

  Research output: Contribution to journal › Article

  Open Access

  • Duchenne Muscular Dystrophy
  • Sequence Deletion
  • Bioinformatics
  • Muscle
  • Genes

• Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries

  Zaw, K., Greer, K., Aung-Htut, M. T., Mitrpant, C., Veedu, R. N., Fletcher, S. & Wilton, S. D., 20 Dec 2019, In : Frontiers in Genetics. 10, 1249.

  Research output: Contribution to journal › Article

  Open Access

  • Antisense Oligonucleotides
  • Exons
  • locked nucleic acid
  • RNA Splice Sites
  • Dystrophin
  1 Citation (Scopus)

• Deletion of dystrophin in-frame exon 5 leads to a severe phenotype: Guidance for exon skipping strategies

  Toh, Z. Y. C., Aung-Htut, M. T., Pinniger, G., Adams, A., Krishnaswarmy, S., Wong, B. L., Fletcher, S. & Wilton, S., 8 Jan 2016, In : PLoS One. 11, 1, p. 1-17 e0145620.

  Research output: Contribution to journal › Article

  Open Access

  File

  • Dystrophin
  • Exons
  • Phenotype
  • Duchenne Muscular Dystrophy
  • Protein Isoforms
  14 Citations (Scopus)

  399 Downloads (Pure)

• Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model

  Bellgard, M. I., Napier, K. R., Bittles, A. H., Szer, J., Fletcher, S., Zeps, N., Hunter, A. A. & Goldblatt, J., Feb 2018, In : Blood Cells, Molecules, and Diseases. 68, p. 232-238

  Research output: Contribution to journal › Article

  Open Access

  • Gaucher Disease
  • Rare Diseases
  • Registries
  • Orphan Drug Production
  • Sustainable Development
  12 Citations (Scopus)

• Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

  Roshandel, D., Thompson, J. A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M. S., Lamey, T. M., McLaren, T. L., De Roach, J. N., Mackey, D. A., Wilton, S. D., Fletcher, S., McLenachan, S. & Chen, F., 2020, (Accepted/In press) In : Ophthalmic Genetics.

  Research output: Contribution to journal › Article

  • Retinitis Pigmentosa 11
  • Disease Progression
  • Scotoma
  • RNA Splicing Factors
  • Messenger RNA

• Gene therapy: Therapeutic applications and relevance to pathology

  Both, G., Alexander, I., Fletcher, S., Nicolson, T. J., Rasko, J. E. J., Wilton, S. & Symonds, G., 2011, In : Pathology. 43, 6, p. 642-656

  Research output: Contribution to journal › Article
  12 Citations (Scopus)

• Impaired functional communication between the L-type calcium channel and mitochondria contributes to metabolic inhibition in the mdx heart

  Viola, H., Adams, A., Davies, S., Fletcher, S., Filipovska, A. & Hool, L., Jul 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 28, p. E2905-E2914

  Research output: Contribution to journal › Article

  Open Access

  • L-Type Calcium Channels
  • Dystrophin
  • Voltage-Dependent Anion Channels
  • Duchenne Muscular Dystrophy
  • Mitochondria
  29 Citations (Scopus)

• Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy

  Mitrpant, C., Porensky, P. N., Zhou, H., Price, L., Muntoni, F., Fletcher, S., Wilton, S. & Burghes, A. H. M., 2013, In : PLoS One. 8, 4, p. 10pp

  Research output: Contribution to journal › Article

  Open Access

  • Spinal Muscular Atrophy
  • Antisense Oligonucleotides
  • Exons
  • Morpholinos
  • Genes
  54 Citations (Scopus)

• Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis

  Luo, Y-B., Mitrpant, C., Johnsen, R., Fabian, V., Needham, M., Fletcher, S., Wilton, S. & Mastaglia, F., 2013, In : International Journal of Clinical and Experimental Pathology. 6, 9, p. 1723-1733

  Research output: Contribution to journal › Article

  • Inclusion Body Myositis
  • Muscles
  • prelamin A
  • Lamin Type A
  • Alternative Splicing
  5 Citations (Scopus)

• Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching

  Fragall, C., Adams, A., Johnsen, R., Kole, R., Fletcher, S. & Wilton, S., 2011, In : BMC Medical Genetics. 12, p. 141

  Research output: Contribution to journal › Article

  Open Access
  6 Citations (Scopus)

• Molecular diagnosis of duchenne muscular dystrophy: Past, present and future in relation to implementing therapies

  Laing, N., Davis, M. R., Bayley, K., Fletcher, S. & Wilton, S., 2011, In : Clinical Biochemist Reviews. 32, 3, p. 129-134

  Research output: Contribution to journal › Article

  28 Citations (Scopus)

• Multiple exon skipping strategies to by-pass dystrophin mutations

  Adkin, C., Meloni, P., Fletcher, S., Adams, A., Muntoni, F., Wong, B. & Wilton, S., 2012, In : Neuromuscular Disorders. 22, 4, p. 297-305

  Research output: Contribution to journal › Article

  Open Access
  13 Citations (Scopus)

• NEAT1 polyA-modulating antisense oligonucleotides reveal opposing functions for both long non-coding RNA isoforms in neuroblastoma

  Naveed, A., Cooper, J. A., Li, R., Hubbard, A., Chen, J., Liu, T., Wilton, S. D., Fletcher, S. & Fox, A. H., 10 Sep 2020, In : Cellular and Molecular Life Sciences.

  Research output: Contribution to journal › Article

  • RNA Isoforms
  • Antisense Oligonucleotides
  • Long Noncoding RNA
  • Neuroblastoma
  • Polyadenylation

• Nonsequential splicing events alter antisense-mediated exon skipping outcome in COL7A1

  Ham, K. A., Aung-Htut, M. T., Fletcher, S. & Wilton, S. D., 2 Oct 2020, In : International Journal of Molecular Sciences. 21, 20, p. 1-15 15 p., 7705.

  Research output: Contribution to journal › Article

  Open Access

  • Oligomers
  • splicing
  • oligomers
  • Introns
  • Messenger RNA

• Novel mutations found in individuals with adult-onset pompe disease

  Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S. & Wilton, S. D., 1 Feb 2020, In : Genes. 11, 2, 135.

  Research output: Contribution to journal › Article

  Open Access

  • Glycogen Storage Disease Type II
  • Mutation
  • Glucosidases
  • Nonsense Codon
  • Muscle Weakness
  2 Citations (Scopus)

• Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

  Huang, D., Thompson, J. A., Charng, J., Chelva, E., McLenachan, S., Chen, S. C., Zhang, D., McLaren, T. L., Lamey, T. M., Constable, I. J., De Roach, J. N., Aung-Htut, M. T., Adams, A., Fletcher, S., Wilton, S. D. & Chen, F. K., 1 Jul 2020, In : Molecular Genetics and Genomic Medicine. 8, 7, e1259.

  Research output: Contribution to journal › Article

  Open Access

  • Stargardt disease 1
  • Pedigree
  • RNA Splice Sites
  • ATP Binding Cassette Transporter, Subfamily A, Member 4
  • Cone-Rod Dystrophies
  1 Citation (Scopus)

• Primary over-expression of AβPP in muscle does not lead to the development of inclusion body myositis in a new lineage of the MCK-AβPP transgenic mouse

  Luo, Y., Johnsen, R., Griffiths, L., Needham, M., Fabian, V. A., Fletcher, S., Wilton, S. & Mastaglia, F., 2013, In : International Journal of Experimental Pathology. 94, 6, p. 418-425

  Research output: Contribution to journal › Article

  • Inclusion Body Myositis
  • Amyloid
  • Transgenic Mice
  • Muscles
  • Electron Microscopy
  1 Citation (Scopus)

• Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

  Bellgard, M. I., Sleeman, M. W., Guerrero, F. D., Fletcher, S., Baynam, G., Goldblatt, J., Rubinstein, Y. R., Bell, C., Groft, S. C., Barrero, R., Bittles, A. H., Wilton, S., Mason, C. E. & Weeramanthri, T. S., 2014, In : Health Policy And Technology. 3, 4, p. 325-335

  Research output: Contribution to journal › Article

  • Bioinformatics
  • Rare Diseases
  • Computational Biology
  • Health
  • Registries
  7 Citations (Scopus)

• Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides

  Aung-Htut, M. T., Comerford, I., Johnsen, R., Foyle, K., Fletcher, S. & Wilton, S. D., 10 Sep 2019, In : Scientific Reports. 9, 1, 1 p.

  Research output: Contribution to journal › Article

  Open Access

  • Integrin alpha Chains
  • Antisense Oligonucleotides
  • RNA Precursors
  • Exons
  • Disease Progression
  4 Citations (Scopus)

• Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements

  Barrett, L., Fletcher, S. & Wilton, S., 2012, In : Cellular and Molecular Life Sciences. 69, 21, p. 3613-3634

  Research output: Contribution to journal › Article

  Open Access
  287 Citations (Scopus)

• Removal of the polyglutamine repeat of ataxin-3 by redirecting pre-mrna processing

  McIntosh, C. S., Aung-Htut, M. T., Fletcher, S. & Wilton, S. D., 1 Nov 2019, In : International Journal of Molecular Sciences. 20, 21, 5434.

  Research output: Contribution to journal › Article

  Open Access

  • ataxia
  • Ataxin-3
  • Machado-Joseph Disease
  • Oligomers
  • Morpholinos
  1 Citation (Scopus)

• Revertant Fibers in the mdx Murine Model of Duchenne Muscular Dystrophy: An Age and Muscle-Related Reappraisal

  Pigozzo, S., Da Re, L., Romualdi, C., Mazzara, P. G., Galletta, E., Fletcher, S., Wilton, S. & Vitiello, L., 2013, In : PLoS One. 8, 8, p. 6pp

  Research output: Contribution to journal › Article

  Open Access
  14 Citations (Scopus)

• RNA splicing manipulation: Strategies to modify gene expression for a variety of therapeutic outcomes

  Wilton, S. & Fletcher, S., 2011, In : Current gene therapy. 11, 4, p. 259-275

  Research output: Contribution to journal › Article
  14 Citations (Scopus)

• Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene

  Greer, K., Johnsen, R., Nevo, Y., Fellig, Y., Fletcher, S. & Wilton, S. D., 25 Jun 2020, In : International Journal of Molecular Sciences. 21, 12

  Research output: Contribution to journal › Article

  Open Access

  • Oligomers
  • Dystrophin
  • genes
  • Duchenne Muscular Dystrophy
  • Proteins
  1 Citation (Scopus)

• Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease

  Aung-Htut, M. T., Ham, K. A., Tchan, M., Johnsen, R., Schnell, F. J., Fletcher, S. & Wilton, S. D., 1 Dec 2020, In : Scientific Reports. 10, 1, 6702.

  Research output: Contribution to journal › Article

  Open Access

  • Glycogen Storage Disease Type II
  • Late Onset Disorders
  • alpha-Glucosidases
  • Antisense Oligonucleotides
  • Acids
  1 Citation (Scopus)

• Structural Variants May Be a Source of Missing Heritability in sALS

  Theunissen, F., Flynn, L. L., Anderton, R. S., Mastaglia, F., Pytte, J., Jiang, L., Hodgetts, S., Burns, D. K., Saunders, A., Fletcher, S., Wilton, S. D. & Akkari, P. A., 31 Jan 2020, In : Frontiers in Neuroscience. 14, 47.

  Research output: Contribution to journal › Article

  Open Access

  • Amyotrophic lateral sclerosis 1
  • Amyotrophic Lateral Sclerosis
  • Genomic Structural Variation
  • Human Genome
  • Genetic Variation
  4 Citations (Scopus)

• Systematic Approach to Developing Splice Modulating Antisense Oligonucleotides

  Aung-Htut, M. T., McIntosh, C. S., Ham, K. A., Pitout, I. L., Flynn, L. L., Greer, K., Fletcher, S. & Wilton, S. D., 11 Oct 2019, In : International Journal of Molecular Sciences. 20, 20

  Research output: Contribution to journal › Article

  Open Access

  • Oligonucleotides
  • Messenger RNA
  • oligonucleotides
  • splicing
  • Antisense Oligonucleotides
  4 Citations (Scopus)

• Targeted exon skipping to address "leaky" mutations in the dystrophin gene

  Fletcher, S., Adkin, C., Meloni, P., Wong, B., Muntoni, F., Kole, R., Fragall, C., Greer, K., Johnsen, R. & Wilton, S., 2012, In : Molecular Therapy-Nucleic Acids. 1, p. e48

  Research output: Contribution to journal › Article

  Open Access
  15 Citations (Scopus)

• Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

  Greer, K. L., Lochmueller, H., Flanigan, K., Fletcher, S. & Wilton, S. D., 18 Mar 2014, In : Molecular Therapy-Nucleic Acids. 3, p. 1-7 7 p., 155.

  Research output: Contribution to journal › Article

  Open Access
  19 Citations (Scopus)
• Chapter

  Optimizing splice-switching oligomer sequences using 2'-o-methyl phosphorothioate chemistry

  Adkin, C., Fletcher, S. & Wilton, S., 2012, Exon Skipping: Methods and Protocols. Aartsma-Rus, A. (ed.). United States: Humana Press, Vol. 867. p. 169-188 (Methods in Molecular Biology).

  Research output: Chapter in Book/Conference paper › Chapter
  3 Citations (Scopus)

• Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment

  Greer, K., Fletcher, S. & Wilton, S. D., 1 Jan 2018, Methods in Molecular Biology. Yokota, T. & Maruyama, R. (eds.). USA: Humana Press, p. 219-228 10 p. (Methods in Molecular Biology; vol. 1828).

  Research output: Chapter in Book/Conference paper › Chapter

  • Dystrophin
  • Exons
  • In Vitro Techniques
  • Reading Frames
  • Polymerase Chain Reaction
  1 Citation (Scopus)
• Editorial

  Comprehending the Health informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research

  Bellgard, M. I., Chartres, N., Watts, G. F., Wilton, S., Fletcher, S., Hunter, A. & Snelling, T., 14 Sep 2017, In : Frontiers in Public Health. 5, 5 p., 224.

  Research output: Contribution to journal › Editorial

  Open Access
• Review article

  ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

  Mejzini, R., Flynn, L. L., Pitout, I. L., Fletcher, S., Wilton, S. D. & Akkari, P. A., 6 Dec 2019, In : Frontiers in Neuroscience. 13, 1310.

  Research output: Contribution to journal › Review article

  Open Access

  • Amyotrophic Lateral Sclerosis
  • Genes
  • Therapeutics
  • Direction compound
  • Research Personnel
  42 Citations (Scopus)

• Antisense-mediated splice intervention to treat human disease: the odyssey continues

  Pitout, I., Flynn, L. L., Wilton, S. D. & Fletcher, S., 22 May 2019, In : F1000Research. 8, 710.

  Research output: Contribution to journal › Review article

  Open Access

  • Oligonucleotides
  • Nucleic Acids
  • Biomolecules
  • Degradation
  • Physicochemical properties
  4 Citations (Scopus)

• Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping

  Li, D., Mastaglia, F. L., Fletcher, S. & Wilton, S. D., 1 Nov 2018, In : Trends in Pharmacological Sciences. 39, 11, p. 982-994 13 p.

  Research output: Contribution to journal › Review article

  • Antisense Oligonucleotides
  • Precision Medicine
  • Medicine
  • Exons
  • Duchenne Muscular Dystrophy
  15 Citations (Scopus)

• Progress in the molecular pathogenesis and nucleic acid therapeutics for Parkinson's disease in the precision medicine era

  Li, D., Mastaglia, F. L., Fletcher, S. & Wilton, S. D., 1 Nov 2020, In : Medicinal Research Reviews. 40, 6, p. 2650-2681

  Research output: Contribution to journal › Review article

  Open Access

  • Precision Medicine
  • Nucleic Acids
  • Parkinson Disease
  • Small Interfering RNA
  • Molecular Biology

• The potential of antisense oligonucleotide therapies for inherited childhood lung diseases

  Martinovich, K. M., Shaw, N., Kicic, A., Fletcher, S., Schultz, A., Wilton, S. D. & Stick, S., 2018, In : Molecular and Cellular Pediatrics. 5, 3.

  Research output: Contribution to journal › Review article

  Open Access

  • Antisense Oligonucleotides
  • Lung Diseases
  • eteplirsen
  • RNA Precursors
  • nusinersen

• Translational development of splice-modifying antisense oligomers

  Fletcher, S., Bellgard, M., Price, L., Akkari, A. & Wilton, S., 2 Jan 2017, In : Expert Opinion on Biological Therapy. 17, 1, p. 15-30 16 p.

  Research output: Contribution to journal › Review article

  • Oligomers
  • Spinal Muscular Atrophy
  • Exons
  • Duchenne Muscular Dystrophy
  • Interdisciplinary Research
  15 Citations (Scopus)