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Publications: Centre for Molecular Medicine and Innovative Therapeutics (CMMIT)

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Number of items at this level: 110.

Journal Article

Amato, A.A., Hanna, M.G., Machado, P.M., Badrising, U.A., Chinoy, H., Benveniste, O., Karanam, A.K., Wu, M., Tankó, L.B., Schubert-Tennigkeit, A.A., Papanicolaou, D.A., Lloyd, T.E., Needham, M., Liang, C., Reardon, K.A., de Visser, M., Ascherman, D.P., Barohn, R.J., Dimachkie, M.M., Miller, J.A.L., Kissel, J.T., Oskarsson, B., Joyce, N.C., Van den Bergh, P., Baets, J., De Bleecker, J.L., Karam, C., David, W.S., Mirabella, M., Nations, S.P., Jung, H.H., Pegoraro, E., Maggi, L., Rodolico, C., Filosto, M., Shaibani, A.I., Sivakumar, K., Goyal, N.A., Mori-Yoshimura, M., Yamashita, S., Suzuki, N., Aoki, M., Katsuno, M., Morihata, H., Murata, K., Nodera, H., Nishino, I., Romano, C.D., Williams, V.S.L., Vissing, J. and Zhang Auberson, L. (2021) Efficacy and safety of Bimagrumab in sporadic inclusion body myositis. Neurology, 96 (12). e1595-e1607.

Ankit, ., Wang, T., Veedu, R.N., Abdmouleh, F., Arbi, M.E. and Kumar, S. (2020) Synthesis and biological evaluation of triazolylnucleosides as antibacterial and anticancer agents. Chemical Data Collections, 28 . Art.100429.

Aung-Htut, M.T., Ham, K.A.ORCID: 0000-0002-7036-5334, Tchan, M., Johnsen, R., Schnell, F.J., Fletcher, S. and Wilton, S.D. (2020) Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease. Scientific Reports, 10 . Article number: 6702.

Aung-Htut, M.T., Ham, K.A.ORCID: 0000-0002-7036-5334, Tchan, M.C., Fletcher, S. and Wilton, S.D. (2020) Novel mutations found in individuals with adult-onset Pompe disease. Genes, 11 (2). Article 135.

Aung-Htut, M.T., McIntosh, C.S., Ham, K.A.ORCID: 0000-0002-7036-5334, Pitout, I.L., Flynn, L.L., Greer, K., Fletcher, S. and Wilton, S.D. (2019) Systematic approach to developing splice modulating antisense oligonucleotides. International Journal of Molecular Sciences, 20 (20). Article 5030.

Aung-Htut, M.T., McIntosh, C.S., West, K.A.ORCID: 0000-0002-7036-5334, Fletcher, S. and Wilton, S.D. (2019) In vitro validation of phosphorodiamidate morpholino oligomers. Molecules, 24 (16). Article 2922.

Bakeberg, M.C., Gorecki, A.M., Pfaff, A.L., Hoes, M.E., Kõks, S., Akkari, P.A., Mastaglia, F.L. and Anderton, R.S. (2021) TOMM40 ‘523’ poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson’s disease. npj Parkinson's Disease, 7 (1). Art. 56.

Bakeberg, M.C., Hoes, M.E., Gorecki, A.M., Theunissen, F., Pfaff, A.L., Kenna, J.E., Plunkett, K., Kõks, S., Akkari, P.A., Mastaglia, F.L. and Anderton, R.S. (2021) The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease. Scientific Reports, 11 (1). Art. 6363.

Bakeberg, M.C., Riley, M., Byrnes, M., Jefferson, A., Ghosh, S., Horne, M.K., McGregor, S., Stell, R., Walters, S., Evans, T., Roberts, K., Mastaglia, F.L., Anderton, R.S. and Ferrarese, C. (2020) Elevated serum ceruloplasmin levels are associated with higher impulsivity in people with Parkinson’s Disease. Parkinson's Disease, 2020 . pp. 1-7.

Balachandran, A.A., Larcher, L.M., Chen, S. and Veedu, R.N. (2020) Therapeutically significant MicroRNAs in primary and metastatic brain malignancies. Cancers, 12 (9). Article 2534.

Benzian-Olsson, N., Dand, N., Chaloner, C., Bata-Csorgo, Z., Borroni, R., Burden, A.D., Cooper, H.L., Cornelius, V., Cro, S., Dasandi, T., Griffiths, C.E.M., Kingo, K., Kõks, S., Lachmann, H., McAteer, H., Meynell, F., Mrowietz, U., Parslew, R., Patel, P., Pink, A.E., Reynolds, N.J., Tanew, A., Torz, K., Trattner, H., Wahie, S., Warren, R.B., Wright, A., Barker, J.N., Navarini, A.A., Smith, C.H. and Capon, F. (2020) Association of clinical and demographic factors with the severity of Palmoplantar Pustulosis. JAMA Dermatology (Online First). Art. e203275.

Brini, S., Sohrabi, H.R.ORCID: 0000-0001-8017-8682, Hebert, J.J., Forrest, M.R.L., Laine, M., Hämäläinen, H., Karrasch, M., Peiffer, J.J.ORCID: 0000-0002-3331-1177, Martins, R.N. and Fairchild, T.J.ORCID: 0000-0002-3975-2213 (2020) Bilingualism is associated with a delayed onset of dementia but not with a lower risk of developing it: A systematic review with meta-analyses. Neuropsychology Review, 30 . pp. 1-24.

Cale, J.M., Greer, K., Fletcher, S. and Wilton, S.D. (2021) Proof-of-concept: Antisense oligonucleotide mediated skipping of fibrillin-1 exon 52. International Journal of Molecular Sciences, 22 (7). Article 3479.

Chakravarthy, M., Chen, S., Wang, T. and Veedu, R.N. (2020) Development of novel chemically-modified nucleic acid molecules for efficient inhibition of human MAPT gene expression. Genes, 11 (6). Article 667.

Chakravarthy, M. and Veedu, R.N. (2019) BACE1 inhibition using 2’-OMePS steric blocking antisense oligonucleotides. Genes, 10 (9).

Chen, J., Wang, J., Deng, Y., Wang, T., Miao, T., Li, C., Cai, X., Liu, Y., Henri, J. and Chen, L. (2020) Ru(II) Complexes Bearing O, O-Chelated Ligands Induced Apoptosis in A549 Cells through the Mitochondrial Apoptotic Pathway. Bioinorganic Chemistry and Applications, 2020 . pp. 1-16.

Chen, S., Le, B.T., Chakravarthy, M., Kosbar, T.R. and Veedu, R.N. (2020) Author Correction: Systematic evaluation of 2′-Fluoro modified chimeric antisense oligonucleotide-mediated exon skipping in vitro. Scientific Reports, 10 (1). Art. 6669.

Chen, S., Le, B.T., Chakravarthy, M., Kosbar, T.R. and Veedu, R.N. (2019) Systematic evaluation of 2′-Fluoro modified chimeric antisense oligonucleotide-mediated exon skipping in vitro. Scientific Reports, 9 (1). Article number 6078.

Chen, S., Sbuh, N. and Veedu, R.N. (2020) Antisense oligonucleotides as potential therapeutics for Type 2 Diabetes. Nucleic Acid Therapeutics, 31 (1). pp. 39-47.

Eltermaa, M., Jakobson, M., Utt, M., Kõks, S., Mägi, R. and Starkopf, J. (2019) Genetic variants in humanin nuclear isoform gene regions show no association with coronary artery disease. BMC Research Notes, 12 (1).

Enticott, P.G., Barlow, K., Guastella, A.J, Licari, M.K., Rogasch, N.C., Middeldorp, C.M., Clark, S.R., Vallence, A-MORCID: 0000-0001-9190-6366, Boulton, K.A., Hickie, I.B., Whitehouse, A.J.O., Galletly, C., Alvares, G.A., Fujiyama, H.ORCID: 0000-0002-7546-6636, Heussler, H., Craig, J.M., Kirkovski, M., Mills, N.T., Rinehart, N.J., Donaldson, P.H., Ford, T.C., Caeyenberghs, K., Albein-Urios, N., Bekkali, S. and Fitzgerald, P.B. (2021) Repetitive transcranial magnetic stimulation (rTMS) in autism spectrum disorder: protocol for a multicentre randomised controlled clinical trial. BMJ Open, 11 (7). Art. e046830.

Flynn, L.L., Mitrpant, C., Adams, A., Pitout, I.L., Stirnweiss, A., Fletcher, S. and Wilton, S.D. (2021) Targeted SMN exon skipping: A useful control to assess in vitro and in vivo splice-switching studies. Biomedicines, 9 (5). Article 552.

Foster, A.D., Downing, P., Figredo, E., Polain, N., Stott, A., Layfield, R. and Rea, S.L. (2020) ALS-associated TBK1 variant p.G175S is defective in phosphorylation of p62 and impacts TBK1-mediated signalling and TDP-43 autophagic degradation. Molecular and Cellular Neuroscience, 108 . Art. 103539.

Foster, A.D., Flynn, L.L., Cluning, C., Cheng, F., Davidson, J.M., Lee, A., Polain, N., Mejzini, R., Farrawell, N., Yerbury, J.J., Layfield, R., Akkari, P.A. and Rea, S.L. (2021) p62 overexpression induces TDP-43 cytoplasmic mislocalisation, aggregation and cleavage and neuronal death. Scientific Reports, 11 (1). Art. 11474.

Gorecki, A.M., Bakeberg, M.C., Theunissen, F., Kenna, J.E., Hoes, M.E., Pfaff, A.L., Akkari, P.A., Dunlop, S.A., Kõks, S., Mastaglia, F.L. and Anderton, R.S. (2020) Single nucleotide polymorphisms associated with gut homeostasis influence risk and age-at-onset of Parkinson's disease. Frontiers in Aging Neuroscience, 12 . Article 603849.

Gorecki, A.M., Preskey, L., Bakeberg, M.C., Kenna, J.E., Gildenhuys, C., MacDougall, G., Dunlop, S.A., Mastaglia, F.L., Akkari, P.A., Koengten, F. and Anderton, R.S. (2019) Altered gut microbiome in Parkinson’s disease and the influence of lipopolysaccharide in a human α-Synuclein over-expressing mouse model. Frontiers in Neuroscience, 13 . Article number 839.

Greer, K., Johnsen, R., Nevo, Y., Fellig, T., Fletcher, S. and Wilton, S.D. (2020) Single exon skipping can address a multi-exon duplication in the dystrophin gene. International Journal of Molecular Sciences, 21 (12). Article 4511.

Gupta, N., Partridge, G.J., Buller, N.B., Pilmer, L., Currie, A. and Lymbery, A.J.ORCID: 0000-0002-0542-3446 (2021) Genetic diversity of Australian isolates of Photobacterium damselae subsp. damselae is associated with virulence to yellowtail kingfish (Seriola lalandi). Aquaculture, 538 . Art. 736552.

Hade, A-C, Philips, M-A, Reimann, E., Jagomäe, T., Eskla, K-L, Traks, T., Prans, E., Kõks, S., Vasar, E. and Väli, M. (2021) Chronic alcohol use induces molecular genetic changes in the Dorsomedial Thalamus of people with Alcohol-Related disorders. Brain Sciences, 11 (4). Art. 435.

Ham, K.A.ORCID: 0000-0002-7036-5334, Aung-Htut, M.T., Fletcher, S. and Wilton, S.D. (2020) Nonsequential splicing events alter antisense-mediated exon skipping outcome in COL7A1. International Journal of Molecular Sciences, 21 (20). Article 7705.

Hibbert, J., Armstrong, N.J.ORCID: 0000-0002-4477-293X, Granland, C., Ng, S., Simmer, K., Richmond, P., Burgner, D., Strunk, T. and Currie, A. (2021) Plasma secretory phospholipase A2 as an early marker for late‐onset sepsis in preterm infants—a pilot study. Acta Paediatrica . Early View.

Hordacre, B., Austin, D., Brown, K.E., Graetz, L., Pareés, I., De Trane, S., Vallence, A-MORCID: 0000-0001-9190-6366, Koblar, S., Kleinig, T., McDonnell, M.N., Greenwood, R., Ridding, M.C. and Rothwell, J.C. (2021) Evidence for a window of enhanced plasticity in the human motor cortex following ischemic stroke. Neurorehabilitation and Neural Repair . Online First.

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.M., Fletcher, S., Wilton, S.D. and Chen, F.K. (2020) Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect. Molecular Genetics & Genomic Medicine . Art. e1259.

Huang, D., Zhang, D., Chen, S-C, Aung-Htut, M.T., Lamey, T.M., Thompson, J.A., McLaren, T.L., De Roach, J.N., Fletcher, S., Wilton, S.D., Chen, F.K. and McLenachan, S. (2021) Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene. Stem Cell Research, 54 . Art. 102448.

Huang, D., Zhang, D., Chen, S-C, Thandar Aung-Htut, M., Lamey, T.M., Thompson, J.A., McLaren, T.L., De Roach, J.N., Fletcher, S., Wilton, S.D., McLenachan, S. and Chen, F.K. (2021) 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. Stem Cell Research, 54 . Art. 102439.

Iacoangeli, A., Lin, T., Al Khleifat, A., Jones, A.R., Opie-Martin, S., Coleman, J.R.I., Shatunov, A., Sproviero, W., Williams, K.L., Garton, F., Restuadi, R., Henders, A.K., Mather, K.A., Needham, M., Mathers, S., Nicholson, G., Rowe, D.B., Henderson, R., McCombe, P.A., Pamphlett, R., Blair, I.P., Schultz, D., Sachdev, P.S., Newhouse, S.J., Proitsi, P., Fogh, I., Ngo, S.T., Dobson, R.J.B., Wray, N.R., Steyn, F.J. and Al-Chalabi, A. (2020) Genome-wide Meta-analysis finds the ACSL5-ZDHHC6 locus Is associated with ALS and links weight loss to the disease genetics. Cell Reports, 33 (4). Art. 108323.

Ingale, D., Kulkarni, P., Electricwala, A., Moghe, A., Kamyab, S., Jagtap, S., Martson, A., Kõks, S. and Harsulkar, A. (2021) Synovium-Synovial fluid axis in osteoarthritis pathology: A key regulator of the cartilage degradation process. Genes, 12 (7). Art. 989.

Keegan, N.P. (2020) Pseudoexons of the DMD Gene. Journal of Neuromuscular Diseases, 7 (2). pp. 77-95.

Keegan, N.P., Wilton, S.D. and Fletcher, S. (2019) Breakpoint junction features of seven DMD deletion mutations. Human Genome Variation, 6 (1).

Krishnan, S., Shrestha, Y., Jayatunga, D.P.W., Rea, S., Martins, R. and Bharadwaj, P. (2020) Activate or inhibit? Implications of autophagy modulation as a therapeutic strategy for Alzheimer’s disease. International Journal of Molecular Sciences, 21 (18). Article 6739.

Kugelman, J., Alonso-Caneiro, D., Chen, Y., Arunachalam, S., Huang, D., Vallis, N., Collins, M.J. and Chen, F.K. (2020) Retinal boundary segmentation in stargardt disease optical coherence tomography images using automated deep learning. Translational Vision Science & Technology, 9 (11). Art. 12.

Kõks, G., Pfaff, A.L., Bubb, V.J., Quinn, J.P. and Kõks, S. (2020) At the dawn of the transcriptomic medicine. Experimental Biology and Medicine .

Kõks, G., Prans, E., Ho, X.D., Duy, B.H., Tran, H.D.T., Ngo, N.B.T., Hoang, L.N.N., Tran, H.MT, Bubb, V.J., Quinn, J.P. and Kõks, S. (2020) Genetic interaction between two VNTRs in the MAOA gene is associated with the nicotine dependence. Experimental Biology and Medicine . Art. 153537022091688.

Kõks, S., Ho, X.D., Maasalu, K., Wood, D. and Martson, A. (2019) Analysis of alternative spicing in the transcriptome of osteosarcoma. Asia-Pacific Journal of Clinical Oncology, 15 (S9). pp. 56-102.

Kõks, S., Pfaff, A.L., Bubb, V.J. and Quinn, J.P. (2021) Expression quantitative trait loci (eQTLs) associated with retrotransposons demonstrate their modulatory effect on the transcriptome. International Journal of Molecular Sciences, 22 (12). Article 6319.

Kõks, S., Pfaff, A.L., Bubb, V.J. and Quinn, J.P. (2021) Transcript variants of genes involved in neurodegeneration are differentially regulated by the APOE and MAPT haplotypes. Genes, 12 (3). Article 423.

Kõks, S., Williams, R.W., Quinn, J., Farzaneh, F., Conran, N., Tsai, S-J, Awandare, G. and Goodman, S.R. (2020) COVID-19: Time for precision epidemiology. Experimental Biology and Medicine . Online First.

Kõks, S., Wood, D.J., Reimann, E., Awiszus, F., Lohmann, C.H., Bertrand, J., Prans, E., Maasalu, K. and Märtson, A. (2019) The genetic variations associated with time to aseptic loosening after total joint arthroplasty. The Journal of Arthroplasty, 35 (4). pp. 981-988.

Larcher, L.M., Wang, T. and Veedu, R.N. (2019) Development of novel antimiRzymes for targeted inhibition of miR-21 expression in solid cancer cells. Molecules, 24 (13). p. 2489.

Lawler, N.G., Gray, N., Kimhofer, T., Boughton, B.ORCID: 0000-0001-6342-9814, Gay, M., Yang, R.ORCID: 0000-0003-2563-2015, Morillon, A-C, Chin, S-T, Ryan, M., Begum, S., Bong, S-H, Coudert, J.D., Edgar, D., Raby, E., Pettersson, S., Richards, T., Holmes, E., Whiley, L.ORCID: 0000-0002-9088-4799 and Nicholson, J.K. (2021) Systemic Perturbations in Amine and Kynurenine Metabolism Associated with Acute SARS-CoV-2 Infection and Inflammatory Cytokine Responses. Journal of Proteome Research, 20 (5). pp. 2796-2811.

Le, A.T.H., Krylova, S.M., Beloborodov, S.S., Wang, T.Y., Hili, R., Johnson, P.E., Li, F., Veedu, R.N., Belyanskaya, S. and Krylov, S.N. (2021) How to develop and prove high-efficiency selection of ligands from oligonucleotide libraries: A universal framework for aptamers and DNA-Encoded small-molecule ligands. Analytical Chemistry, 93 (13). pp. 5343-5354.

Le, B.T., Agarwal, S. and Veedu, R.N. (2021) Evaluation of DNA segments in 2′-modified RNA sequences in designing efficient splice switching antisense oligonucleotides. RSC Advances, 11 (23). pp. 14029-14035.

Le, B.T., Kosbar, T.R. and Veedu, R.N. (2020) Novel disulfide-bridged bioresponsive antisense oligonucleotide induces efficient splice modulation in muscle Myotubes in Vitro. ACS Omega, 5 (29). pp. 18035-18039.

Learmonth, Y.C.ORCID: 0000-0002-4857-8480 and Heritage, B.ORCID: 0000-0002-6437-7232 (2020) Motivations towards exercise participation: Active persons with multiple sclerosis have greater self-directed and self-capable motivations. Archives of Physical Medicine and Rehabilitation, 102 (6). pp. 1232-1235.

Learmonth, Y.C.ORCID: 0000-0002-4857-8480, Kaur, Inderpreet, Baynton, S.L., Fairchild, T.ORCID: 0000-0002-3975-2213, Paul, L. and van Rens, F. (2021) Changing Behaviour towards Aerobic and Strength Exercise (BASE): Design of a randomised, phase I study determining the safety, feasibility and consumer-evaluation of a remotely-delivered exercise programme in persons with multiple sclerosis. Contemporary Clinical Trials, 102 . Art. 106281.

Li, D., Adams, A.M., Johnsen, R.D., Fletcher, S. and Wilton, S.D. (2020) Morpholino oligomer-induced dystrophin isoforms to map the functional domains in the dystrophin protein. Molecular Therapy - Nucleic Acids, 22 . pp. 263-272.

Li, D., Aung-Htut, M.T., Ham, K.A.ORCID: 0000-0002-7036-5334, Fletcher, S. and Wilton, S.D. (2020) A splice intervention therapy for autosomal recessive juvenile Parkinson’s disease arising from Parkin mutations. International Journal of Molecular Sciences, 21 (19). Article 7282.

Li, D., Mastaglia, F.L., Fletcher, S. and Wilton, S.D. (2020) Progress in the molecular pathogenesis and nucleic acid therapeutics for Parkinson's disease in the precision medicine era. Medicinal Research Reviews, 40 (6). pp. 2650-2681.

Li, D., McIntosh, C.S., Mastaglia, F.L., Wilton, S.D. and Aung-Htut, M.T. (2021) Neurodegenerative diseases: A hotbed for splicing defects and the potential therapies. Translational Neurodegeneration, 10 (1). Art. 16.

Li, Y., Chen, S., Liu, N., Ma, L., Wang, T., Veedu, R.N., Liu, T., Zhang, F., Zhou, H., Cheng, X. and Jing, X. (2020) A systematic investigation of key factors of nucleic acid precipitation toward optimized DNA/RNA isolation. BioTechniques, 68 (4). pp. 191-199.

Liu, G., Peng, J., Liao, Z., Locascio, J.J., Corvol, J-C, Zhu, F., Dong, X., Maple-Grødem, J., Campbell, M.C., Elbaz, A., Lesage, S., Brice, A., Mangone, G., Growdon, J.H., Hung, A.Y., Schwarzschild, M.A., Hayes, M.T., Wills, A-M, Herrington, T.M., Ravina, B., Shoulson, I., Taba, P., Kõks, S., Beach, T.G., Cormier-Dequaire, F., Alves, G., Tysnes, O-B, Perlmutter, J.S., Heutink, P., Amr, S.S., van Hilten, J.J., Kasten, M., Mollenhauer, B., Trenkwalder, C., Klein, C., Barker, R.A., Williams-Gray, C.H., Marinus, J. and Scherzer, C.R. (2021) Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease. Nature Genetics .

Lodge, S., Nitschke, P., Kimhofer, T., Coudert, J.D., Begum, S., Bong, S-H, Richards, T., Edgar, D., Raby, E., Spraul, M., Schaefer, H., Lindon, J.C., Loo, R.L., Holmes, E. and Nicholson, J.K. (2021) NMR spectroscopic windows on the systemic effects of SARS-CoV-2 infection on plasma lipoproteins and metabolites in relation to circulating cytokines. Journal of Proteome Research, 20 (2). pp. 1382-1396.

Lu, J., Wood, D., Ingley, E.ORCID: 0000-0002-8112-9134, Kõks, S. and Wong, D. (2021) Update on genomic and molecular landscapes of well-differentiated liposarcoma and dedifferentiated liposarcoma. Molecular Biology Reports .

Mahoney, S., Bradley, A., Pitts, L., Waletzko, S., Robinson-Lane, S.G., Fairchild, T.ORCID: 0000-0002-3975-2213, Terbizan, D.J. and McGrath, R. (2020) Health insurance is associated with decreased odds for undiagnosed prediabetes and type 2 diabetes in American adults. International Journal of Environmental Research and Public Health, 17 (13). Article 4706.

Marck, C.H., Learmonth, Y.C.ORCID: 0000-0002-4857-8480, Chen, J. and van der Mei, I. (2020) Physical activity, sitting time and exercise types, and associations with symptoms in Australian people with multiple sclerosis. Disability and Rehabilitation . Latest Article.

Marshall, J.N., Lopez, A.I., Pfaff, A.L., Kõks, S., Quinn, J.P. and Bubb, V.J. (2021) Variable number tandem repeats – Their emerging role in sickness and health. Experimental Biology and Medicine, 246 (12). pp. 1368-1376.

Martinovich, K., Kicic, A., Fletcher, S., Wilton, S. and Stick, S. (2021) Antisense oligonucleotide induced exon skipping to restore the CFTR reading frame. Respirology, 26 (Supp. 2). p. 23.

Martinovich, K., Kicic, A., Fletcher, S., Wilton, S., Stick, S. and Arest, C.F. (2020) Restoring CFTR using antisense oligonucleotides for a cystic fibrosis causing splice mutation C.2989-1G>A. Respirology, 25 (S1). p. 150.

Martinovich, K.M., Kicic, A., Fletcher, S., Wilton, S.D. and Stick, S.M. (2019) Antisense oligonucleotides to improve CFTR function for people with the INTRON 9 5T polymorphism. Pediatric Pulmonology, 54 (S2). S217-S218.

McIntosh, C.S., Aung-Htut, M.T., Fletcher, S. and Wilton, S.D. (2019) Removal of the polyglutamine repeat of ataxin-3 by redirecting pre-mRNA processing. International Journal of Molecular Sciences, 20 (21). Article 5434.

Mejzini, R., Flynn, L.L., Pitout, I.L., Fletcher, S., Wilton, S.D. and Akkari, P.A. (2019) ALS genetics, mechanisms, and therapeutics: Where are we now? Frontiers in Neuroscience, 13 .

Muldmaa, M., Mencacci, N.E., Pittman, A., Kadastik‐Eerme, L., Sikk, K., Taba, P., Hardy, J. and Kõks, S. (2020) Community‐based genetic study of Parkinson's disease in Estonia. Acta Neurologica Scandinavica . Early View.

Müller‐Nedebock, A.C., Westhuizen, F.H., Kõks, S. and Bardien, S. (2021) Nuclear genes associated with mitochondrial DNA processes as contributors to Parkinson's Disease risk. Movement Disorders . Early View.

Naveed, A., Cooper, J.A., Li, R., Hubbard, A., Chen, J., Liu, T., Wilton, S.D., Fletcher, S. and Fox, A.H. (2020) NEAT1 polyA-modulating antisense oligonucleotides reveal opposing functions for both long non-coding RNA isoforms in neuroblastoma. Cellular and Molecular Life Sciences .

Oren, Y.S., Irony-Tur Sinai, M., Golec, A., Barchad-Avitzur, O., Mutyam, V., Li, Y., Hong, J., Ozeri-Galai, E., Hatton, A., Leibson, C., Carmel, L., Reiter, J., Sorscher, E.J., Wilton, S.D., Kerem, E., Rowe, S.M., Sermet-Gaudelus, I. and Kerem, B. (2021) Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutation. Journal of Cystic Fibrosis . In Press.

Pfaff, A., Bubb, V., Quinn, J. and Kõks, S. (2020) Polymorphic reference SVAs are associated with Parkinson's disease progression markers and differential gene expression in the PPMI cohort. Parkinsonism & Related Disorders, 79 (Supp. 1). e30.

Pfaff, A.L., Bubb, V.J., Quinn, J.P. and Kõks, S. (2020) An increased burden of highly active retrotransposition competent L1s is associated with Parkinson’s disease risk and progression in the PPMI cohort. International Journal of Molecular Sciences, 21 (18). Article 6562.

Pitout, I., Flynn, L.L., Wilton, S.D. and Fletcher, S. (2019) Antisense-mediated splice intervention to treat human disease: the odyssey continues. F1000Research, 8 .

Pytte, J., Anderton, R.S., Flynn, L.L., Theunissen, F., Jiang, L., Pitout, I., James, I., Mastaglia, F.L., Saunders, A.M., Bedlack, R., Siddique, T., Siddique, N. and Akkari, P.A. (2020) Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis. Neurology Genetics, 6 (2). Art. e406.

Pytte, J., Flynn, L.L., Anderton, R.S., Mastaglia, F.L., Theunissen, F., James, I., Pfaff, A., Kõks, S., Saunders, A.M., Bedlack, R., Burns, D.K., Lutz, M.W., Siddique, N., Siddique, T., Roses, A.D. and Akkari, P.A. (2020) Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort. Neurology Genetics, 6 (4). e470.

Raguraman, P., Wang, T., Ma, L., Jørgensen, P.T., Wengel, J. and Veedu, R.N. (2020) Alpha-l-Locked nucleic acid-modified antisense oligonucleotides induce efficient splice modulation in vitro. International Journal of Molecular Sciences, 21 (7). Article 2434.

Rea, S.L. and Foster, A.D. (2020) The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis. Neural Regeneration Research, 15 (12). pp. 2186-2194.

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. and Chen, F.K. (2020) Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic Genetics . pp. 1-14.

Rothzerg, E., Ho, X.D., Xu, J., Wood, D., Märtson, A., Maasalu, K. and Kõks, S. (2020) Alternative splicing of leptin receptor overlapping transcript in osteosarcoma. Experimental Biology and Medicine .

Rothzerg, E., Xu, J., Wood, D. and Kõks, S. (2021) 12 Survival-related differentially expressed genes based on the TARGET-osteosarcoma database. Experimental Biology and Medicine .

Savage, A.L., Lopez, A.I., Iacoangeli, A., Bubb, V.J., Smith, B., Troakes, C., Alahmady, N., Kõks, S., Schumann, G.G., Al-Chalabi, A. and Quinn, J.P. (2020) Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis. Molecular Brain, 13 (1). Art. 154.

Shaw, N., Kicic, A., Schneider-Daum, N., Fletcher, S., Wilton, S., Huwer, H., Lehr, C., Stick, S. and Schultz, A. (2020) Characterisation of a surrogate Type-II alveolar cell culture model for ATP binding cassette subfamily a member 3 (ABCA-3) deficiency. Respirology, 25 (S1). p. 130.

Theunissen, F., Anderton, R.S., Mastaglia, F.L., Flynn, L.L., Winter, S.J., James, I., Bedlack, R., Hodgetts, S., Fletcher, S., Wilton, S.D., Laing, N.G., MacShane, M., Needham, M., Saunders, A., MacKay-Sim, A., Melamed, Z., Ravits, J., Cleveland, D.W. and Akkari, P.A. (2021) Novel STMN2 variant linked to amyotrophic lateral sclerosis risk and clinical phenotype. Frontiers in Aging Neuroscience, 13 . Art. 658226.

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. and Akkari, P.A. (2020) Structural variants may be a source of missing heritability in sALS. Frontiers in Neuroscience, 14 .

Thomas, P.B., Jeffery, P.L., Manuel, G.D., Whiteside, E.J., Maugham, M., Walpole, C., Gunter, J.H., Williams, E.D., Nelson, C.C., Herington, A.C., Luque, R.M., Veedu, R.N., Chopin, L.K. and Seim, I. (2018) Abstract 2452: Dysregulated expression of the human long noncoding RNAGHSROSmay influence prostate cancer progression and resistance to docetaxe. Cancer Research, 78 (13 Supp.). p. 2452.

Tian, J., Adams, M.J.ORCID: 0000-0002-7743-4515, Tay, J.W.T., James, I., Powell, S., Hughes, Q.W., Gilmore, G., Baker, R.I. and Tiao, J.Y-H. (2021) Estradiol-Responsive miR-365a-3p Interacts with Tissue Factor 3′UTR to Modulate Tissue Factor-Initiated Thrombin Generation. Thrombosis and Haemostasis .

Valentin, R., Wong, C., Alharbi, A.S., Pradeloux, S., Morros, M.P., Lennox, K.A., Ellyard, J.I., Garcin, A.J., Ullah, T.R., Kusuma, G.D., Pépin, G., Li, H-M, Pearson, J.S., Ferrand, J., Lim, R., Veedu, R.N., Morand, E.F., Vinuesa, C.G., Behlke, M.A. and Gantier, M.P. (2021) Sequence-dependent inhibition of cGAS and TLR9 DNA sensing by 2′-O-methyl gapmer oligonucleotides. Nucleic Acids Research, 49 (11). pp. 6082-6099.

Vetkas, A., Prans, E., Kõks, S., Rätsep, T. and Asser, T. (2020) Aneurysmal subarachnoid haemorrhage: Effect of CRHR1 genotype on fatigue and depression. BMC Neurology, 20 (1). Art. 142.

Vetkas, A., Prans, E., Kõks, S., Rätsep, T. and Asser, T. (2020) Aneurysmal subarachnoid haemorrhage: Effect of CRHR1 genotype on mental health-related quality of life. Scientific Reports, 10 (1).

Vollstedt, E‐J, Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad‐Annuar, A., Albanese, A., Alcalay, R., Al‐Mubarak, B., Alvarez, V., Andree‐Muñoz, B., Annesi, G., Appel‐Cresswell, S., Arkadir, D., Armasu, S., Barber, T.R., Bardien, S., Barkhuizen, M., Barrett, M.J., BaŞak, A.N., Beach, T., Benitez, B.A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A.C., Carr, J., Chan, P., Chang‐Castello, J., Chase, B., Chen‐Plotkin, A., Chung, S.J., Cilia, R., Clarimon, J., Clark, L., Cornejo‐Olivas, M., Corvol, J‐C, Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E.M., Genç, G., Goldwurm, S., Gomez‐Esteban, J.C., Gómez‐Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R.A., Hedera, P., Hentati, F., Hertz, J.M., Holton, J.L., Houlden, H., Hutz, M.H., Ikeuchi, T., Illarioshkin, S., Inca‐Martinez, M., Infante, J., Jankovic, J., Jeon, B.S., Jesús, S., Jimenez‐Del‐Rio, M., Kasten, M., Kataoka, H., Kawakami, H., Kim, Y.J., Klein, C., Klivényi, P., Kõks, S., König, I.R., KostiĆ, V., Koziorowski, D., Krüger, R., Krygowska‐Wajs, A., Kulisevsky, J., Lang, A., LeDoux, M., Lesage, S., Lim, S‐Y, Lin, C‐H, Lohmann, K., Lopera, F., Lopez, G., Lu, C‐S, Lynch, T., Machaczka, M., Madoev, H., Magalhães, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M.H., Mata, I., Mazzetti, P., Mellick, G., Menéndez‐González, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R.P., Naito, A., Olszewska, D.A., Ozelius, L.J., Padmanabhan, S., Paisán‐Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P.P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez‐Porcel, F., Rogaeva, E., Ross, O.A., Ruiz‐Martinez, J., Sammler, E., Luciano, M.S., Satake, W., Saunders‐Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher‐Schuh, A., Sharma, M., Sidransky, E., Singleton, A.B., Petersen, M.S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A.H., Tan, E‐K, Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E.M., Van Broeckhoven, C., Vecsei, L., Velez‐Pardo, C., Vidailhet, M., Vollstedt, E‐J, Warner, T.T., Williams‐Gray, C.H., Winkelmann, J., Woitalla, D., Wood, N.W., Wszolek, Z.K., Wu, R‐M, Wu, Y‐R, Xie, T., Yoshino, H., Zhang, B. and Zimprich, A. (2019) Using global team science to identify genetic Parkinson's disease worldwide. Annals of Neurology, 86 (2). pp. 153-157.

Wang, T., Chen, L., Chikkanna, A., Chen, S., Brusius, I., Sbuh, N. and Veedu, R.N. (2021) Development of nucleic acid aptamer-based lateral flow assays: A robust platform for cost-effective point-of-care diagnosis. Theranostics, 11 (11). pp. 5174-5196.

Wang, T., Philippovich, S., Mao, J. and Veedu, R.N. (2019) Efficient epidermal growth factor receptor targeting oligonucleotide as a potential molecule for targeted cancer therapy. International Journal of Molecular Sciences, 20 (19).

Wang, T., Rahimizadeh, K. and Veedu, R.N. (2019) Development of a novel DNA oligonucleotide targeting low-density lipoprotein receptor. Molecular Therapy - Nucleic Acids, 19 . pp. 190-198.

Waszczykowska, A., Zmysłowska, A., Braun, M., Ivask, M., Kõks, S., Jurowski, P. and Młynarski, W. (2020) Multiple Retinal Anomalies in Wfs1-Deficient Mice. Diagnostics, 10 (9). Art. 607.

Wood, A., Gurfinkel, Y., Polain, N., Lamont, W. and Rea, S.L. (2021) Molecular mechanisms underlying TDP-43 pathology in cellular and animal models of ALS and FTLD. International Journal of Molecular Sciences, 22 (9). Article 4705.

Xiong, H., Veedu, R.N. and Diermeier, S.D. (2021) Recent advances in oligonucleotide therapeutics in oncology. International Journal of Molecular Sciences, 22 (7). Article 3295.

Yang, D., Zhang, W., Zhang, H., Zhang, F., Chen, L., Ma, L., Larcher, L.M., Chen, S., Liu, N., Zhao, Q., Tran, P.H.L., Chen, C., Veedu, R.N. and Wang, T. (2020) Progress, opportunity, and perspective on exosome isolation - efforts for efficient exosome-based theranostics. Theranostics, 10 (8). pp. 3684-3707.

Zamani Esteki, M., Viltrop, T., Tšuiko, O., Tiirats, A., Koel, M., Nõukas, M., Žilina, O., Teearu, K., Marjonen, H., Kahila, H., Meekels, J., Söderström-Anttila, V., Suikkari, A-M, Tiitinen, A., Mägi, R., Kõks, S., Kaminen-Ahola, N., Kurg, A., Voet, T., Vermeesch, J.R. and Salumets, A. (2019) In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages. Nature Medicine, 25 (11). pp. 1699-1705.

Zaw, K., Greer, K., Aung-Htut, M.T., Mitrpant, C., Veedu, R.N., Fletcher, S. and Wilton, S.D. (2019) Consequences of making the inactive active through changes in antisense oligonucleotide chemistries. Frontiers in Genetics, 10 .

Zaw, K., Wong, E.Y.M., Zhang, X., Zhang, D., Chen, S-C, Thompson, J.A., Lamey, T., McLaren, T., De Roach, J.N., Wilton, S.D., Fletcher, S., Mitrpant, C., Atlas, M.D., Chen, F.K. and McLenachan, S. (2021) Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene. Stem Cell Research, 50 . Art. 102129.

Zhou, H., Wang, X., Du, R., Cheng, X., Zheng, K., Dong, S., Henri, J., Chen, C. and Wang, T. (2021) The work experience of newly recruited male nurses during COVID-19: A Qualitative Study. Asian Nursing Research .

Zhytnik, L., Maasalu, K., Reimann, E., Märtson, A. and Kõks, S. (2020) RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta. BMC Medical Genomics, 13 (1).

Book Chapter

González-Navarro, H., Dogan, S., Tuna, B.G., Potter, P.K., Kõks, G. and Kõks, S. (2019) Aging in rodents. In: Rattan, S.I.S., (ed.) Reference Module in Biomedical Sciences. Academic Press, pp. 73-87.

Thesis

Cale, Jessica M. (2021) Antisense oligonucleotide-mediated alternative splicing strategies to treat the type-1 fibrillinopathies. PhD thesis, Murdoch University.

McIntosh, Craig Stewart (2020) Antisense oligonucleotide-mediated therapeutic strategies for neurodegenerative repeat expansion diseases. PhD thesis, Murdoch University.

This list was generated on Tue Jul 27 08:57:23 2021 UTC.