Publications by authors named "Sue Fletcher"

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Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment.
Kane Greer, Sue Fletcher, Steve D Wilton

Methods Mol Biol· July 2025

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To splice or not to splice: pseudoexons in neurological disease and opportunities for intervention.
Sue Fletcher, Niall P Keegan, Rita Mejzini, Ianthe L Pitout

Curr Opin Genet Dev· June 2025

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Expression and Site-Specific Biotinylation of Human Cytosolic 5'-Nucleotidase 1A in .
Nataliya Slater, Anuradha Sooda, Frank L Mastaglia, Sue Fletcher, Mark Watson

Methods Protoc· June 2025

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Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in Exon 10 or 15?
Sasiwimon Utama, Jessica M Cale, Chalermchai Mitrpant, Sue Fletcher, Steve D Wilton

Int J Mol Sci· August 2024

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Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
Bal Hari Poudel, Sue Fletcher, Steve D Wilton, May Aung-Htut

Int J Mol Sci· May 2024

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A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.
Janya Grainok, Ianthe L Pitout, Fred K Chen, Samuel McLenachan, Rachael C Heath Jeffery, Sue Fletcher

Int J Mol Sci· March 2024

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DNAzymes: Expanding the Potential of Nucleic Acid Therapeutics.
Leon M Larcher, Ianthe L Pitout, Niall P Keegan, Rakesh N Veedu, Sue Fletcher

Nucleic Acid Ther· June 2023

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Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Di Huang, Jennifer A Thompson, Shang-Chih Chen, Abbie Adams, Ianthe Pitout, Sue Fletcher

Exp Eye Res· December 2022

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Pathogenesis and Treatment of Usher Syndrome Type IIA.
Khine Zaw, Livia S Carvalho, May T Aung-Htut, Sue Fletcher, Steve D Wilton

Asia Pac J Ophthalmol (Phila)· September 2022

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Niall P Keegan, Steve D Wilton, Sue Fletcher

Front Genet· June 2022

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Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of in SMA Type I Fibroblasts.
Jarichad Toosaranont, Sukanya Ruschadaariyachat, Warasinee Mujchariyakul, Jantarika Kumar Arora, Varodom Charoensawan, Sue Fletcher

Int J Mol Sci· April 2022

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Single Stranded Fully Modified-Phosphorothioate Oligonucleotides can Induce Structured Nuclear Inclusions, Alter Nuclear Protein Localization and Disturb the Transcriptome .
Loren L Flynn, Ruohan Li, Ianthe L Pitout, May T Aung-Htut, Leon M Larcher, Sue Fletcher

Front Genet· April 2022

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Investigating the Implications of Exon Skipping Using a Exon 9 Deleted Mouse Model.
Kelly M Martinovich, Anthony Kicic, Stephen M Stick, Russell D Johnsen, Sue Fletcher

Front Pharmacol· March 2022

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Stargardt disease and progress in therapeutic strategies.
Di Huang, Rachael C Heath Jeffery, May Thandar Aung-Htut, Samuel McLenachan, Sue Fletcher

Ophthalmic Genet· February 2022

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Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency.
Nicole C Shaw, Anthony Kicic, Sue Fletcher, Stephen D Wilton, Stephen M Stick

Front Med (Lausanne)· February 2022

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A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.
Niall Patrick Keegan, Sue Fletcher

Mol Genet Genomic Med· January 2022

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Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Niall P Keegan, Steve D Wilton, Sue Fletcher

Front Genet· January 2022

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Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium.
Zhiqin Huang, Dan Zhang, Shang-Chih Chen, Luke Jennings, Livia S Carvalho, Sue Fletcher

J Cell Mol Med· November 2021

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Determinants of Disease Penetrance in -Associated Retinopathy.
Samuel McLenachan, Dan Zhang, Janya Grainok, Xiao Zhang, Zhiqin Huang, Sue Fletcher

Genes (Basel)· September 2021

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Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M Lamey, Sue Fletcher

Stem Cell Res· July 2021

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Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M Lamey, Sue Fletcher

Stem Cell Res· July 2021

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Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides.
Kristin A Ham, Niall P Keegan, Craig S McIntosh, May T Aung-Htut, Khine Zaw, Sue Fletcher

Sci Rep· July 2021

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Targeted Exon Skipping: A Useful Control to Assess In Vitro and In Vivo Splice-Switching Studies.
Loren L Flynn, Chalermchai Mitrpant, Abbie Adams, Ianthe L Pitout, Anja Stirnweiss, Sue Fletcher

Biomedicines· May 2021

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Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52.
Jessica M Cale, Kane Greer, Sue Fletcher, Steve D Wilton

Int J Mol Sci· March 2021

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Novel Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype.
Frances Theunissen, Ryan S Anderton, Frank L Mastaglia, Loren L Flynn, Samantha J Winter, Sue Fletcher

Front Aging Neurosci· March 2021

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