Publications: Akkari, Anthony

Journal Article

Berthold, N., Pytte, J., Bulik, C.M., Tschochner, M., Medland, S.E. and Akkari, P.A. (2022) Bridging the gap: Short structural variants in the genetics of anorexia nervosa. International Journal of Eating Disorders, 55 (6). pp. 747-753.

Theunissen, F., Anderton, R.S., Mastaglia, F.L., James, I., Bedlack, R. and Akkari, P.A. (2022) Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. Scientific Reports, 12 (1). Art. 14739.

Theunissen, F., Flynn, L.L., Anderton, R.S. and Akkari, P.A. (2022) Short structural variants as informative genetic markers for ALS disease risk and progression. BMC Medicine, 20 (1). Art. 11.

Roberts, B., Theunissen, F., Mastaglia, F.L., Akkari, P.A. and Flynn, L.L. (2022) Synucleinopathy in amyotrophic lateral sclerosis: A potential avenue for antisense therapeutics? International Journal of Molecular Sciences, 23 (16). Article 9364.

Li, D., Mastaglia, F.L., Yau, W.Y., Chen, S., Wilton, S.D. and Akkari, P.A. (2022) Targeted molecular therapeutics for Parkinson's Disease: A role for antisense oligonucleotides? Movement Disorders . Early View.

Theunissen, F., West, P.K., Brennan, S., Petrović, B., Hooshmand, K., Akkari, P.A., Keon, M. and Guennewig, B. (2021) New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis. Translational Neurodegeneration, 10 (1). Art. 46.

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.

Bakeberg, M.C., Gorecki, A.M., Pfaff, A.L.ORCID: 0000-0002-2231-9800, 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 . Article 56.

Bakeberg, M.C., Hoes, M.E., Gorecki, A.M., Theunissen, F., Pfaff, A.L.ORCID: 0000-0002-2231-9800, 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 . Article 6363.

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.

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.ORCID: 0000-0002-2231-9800, 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.

Gorecki, A.M., Bakeberg, M.C., Theunissen, F., Kenna, J.E., Hoes, M.E., Pfaff, A.L.ORCID: 0000-0002-2231-9800, 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.

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 .

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 .

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.

Mellough, C.M., Ackerman, M., Thompson, J.A., De Roach, J., McLaren, T., Lamey, T., Akkari, A., Ram, R., Leary, S., Chopra, A., Chen, S.C., Zhang, D., McLenachan, S. and Chen, F.K. (2019) Utilising patient-specific retinal organoids to investigate the role of SNRNP200 variants of unknown significance in severe early onset retinitis pigmentosa. Investigative Ophthalmology and Visual Science, 60 (9). p. 2868.

Fletcher, S., Bellgard, M.I., Price, L., Akkari, A.P. and Wilton, S.D. (2017) Translational development of splice-modifying antisense oligomers. Expert Opinion on Biological Therapy, 17 (1). pp. 15-30.

Webb, B.T., Oord, E., Akkari, A., Wilton, S., Ly, T., Duff, R., Barnes, K.C., Carlsen, K., Gerritsen, J., Lenney, W., Silverman, M., Sly, P., Sundy, J., Tsanakas, J., Berg, A., Whyte, M., Blumenthal, M., Vestbo, J., Middleton, L., Helms, P.J., Anderson, W.H. and Pillai, S.G. (2007) Quantitative linkage genome scan for atopy in a large collection of Caucasian families. Human Genetics, 121 (1). pp. 83-92.

Akkari, P.A., Nowak, K.J., Beckman, K., Walker, K.R., Schachat, F. and Laing, N.G (2003) Production of human skeletal α-actin proteins by the baculovirus expression system. Biochemical and Biophysical Research Communications, 307 (1). pp. 74-79.

Mastaglia, F.L., Phillips, B.A., Cala, L.A., Meredith, C., Egli, S., Akkari, P.A. and Laing, N.G. (2002) Early onset chromosome 14-linked distal myopathy (Laing). Neuromuscular Disorders, 12 (4). pp. 350-357.

Pelin, K., Hilpela, P., Donner, K., Sewry, C., Akkari, P.A., Wilton, S.D., Wattanasirichaigoon, D., Bang, M-L, Centner, T., Hanefeld, F., Odent, S., Fardeau, M., Urtizberea, J.A., Muntoni, F., Dubowitz, V., Beggs, A.H., Laing, N.G., Labeit, S., de la Chapelle, A. and Wallgren-Pettersson, C. (1999) Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proceedings of the National Academy of Sciences, 96 (5). pp. 2305-2310.

Tan, P., Allen, J.G., Wilton, S.D., Akkari, P.A., Huxtable, C.R. and Laing, N.G. (1997) A splice-site mutation causing ovine McArdle's disease. Neuromuscular Disorders, 7 (5). pp. 336-342.

Wilton, S.D., Eyre, H., Akkari, P.A., Watkins, H.C., MacRae, C., Laing, N.G. and Callen, D.C. (1995) Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 68 (1-2). pp. 122-124.

Hunt, C.C., Eyre, H.J., Akkari, P.A., Meredith, C., Dorosz, S.M., Wilton, S.D., Callen, D.F., Laing, N.G. and Baker, E. (1995) Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 71 (1). pp. 94-95.

Eyre, H., Akkari, P.A., Wilton, S.D., Callen, D.C., Baker, E. and Laing, N.G. (1995) Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization. Cytogenetics and Cell Genetics, 69 (1-2). pp. 15-17.

Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D.R. and Haan, E. (1995) A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nature Genetics, 9 (1). pp. 75-79.

Akkari, P.A., Eyre, H.J., Wilton, S.D., Callen, D.F., Lane, S.A., Meredith, C., Kedes, L. and Laing, N.G. (1994) Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 65 (4). pp. 265-267.

Eyre, H.J., Akkari, P.A., Meredith, C., Wilton, S.D., Callen, D.C., Kedes, L. and Laing, N.G. (1993) Assignment of the human slow skeletal muscle troponin gene (TNNI1) to 1q32 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 62 (2-3). pp. 181-182.

Laing, N.G., Majda, B.T., Akkari, P.A., Layton, M.G., Mulley, J.C., Phillips, H., Haan, E.A., White, S.J., Beggs, A.H., Kunkel, L.M., Groth, D.M., Boundy, K.L., Kneebone, C.S., Blumberg, P.C., Wilton, S.D., Speer, M.C. and Kakulas, B.A. (1992) Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. American Journal of Human Genetics, 50 (3). pp. 576-583.

Laing, N., Majda, B.T., Akkari, A., Clayton, M., Mulley, J., Phillips, H., Haan, E., White, S., Beggs, A., Kunkel, L., Groth, D., Boundy, K., Kneebone, C., Blumbergs, P., Wilton, S., Speer, M. and Kakulas, B. (1991) Assignment of Nemaline Myopathy (Mim 161800, Nem1) to Chromosome-1. Cytogenetics and Cell Genetics, 58 (3-4). p. 1858.

Conference Item

Laing, N.G., Tan, P., Wilton, S.D., Akkari, P.A., Johnsen, R.D., Sharp, M., Allen, J. and Huxtable, C. (1996) Ovine models of McArdle's disease and muscular dystrophy. In: Gene Therapy Workshop, 30 - 31 May 1996, Australian Neuromuscular Research Institute, Perth, Western Australia.

Tan, P., Wilton, S.D., Akkari, P.A., Sharp, M., Allen, J., Huxtable, C.R. and Laing, N.G. (1996) A splice-site mutation causing ovine McArdle's disease. In: 1st Congress of the World Muscle Society, 25 - 27 September 1996, London, UK.

Hunt, C.C.J., Eyre, H.J., Akkari, P.A., Meredith, C., Dorosz, S.M., Wilton, S.D., Callen, D.F. and Laing, N.G. (1995) Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation. In: 15th Annual Meeting of the Australian Neuroscience Society, 1 - 3 February 1995, Perth, Western Australia.

Wilton, S., Akkari, A., Dorosz, S., Boundy, K., Kneebone, C., Blumberg, P., White, S., Watkins, H., Love, D. and Laing, N.G. (1995) Autosomal dominant nemaline myopathy - positional cloning to a mutation in tropomyosin 3. In: 5th Annual Queenstown Molecular Biology Meeting, 13 - 18 August 1995, Queenstown, New Zealand.

Tan, P., Wilton, S.D., Akkari, P.A., Sharp, M. and Allen, J. (1995) Frameshift mutation in ovine muscular disease. In: 6th Combined Biological Sciences Meeting, Perth, Western Australia.

Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S.M., Gunn, H.C., Hunt, C.C.J., Lim, L., Meredith, C., Baker, E., Eyre, H.J. and Callen, D.F. (1995) Inherited diseases of skeletal and cardiac muscle associated with contractile proteins. In: Human Genetics Society of Australasia. 19th Annual Scientific Meeting: Genes and Development, 4 - 6 September 1995, Brisbane, QLD.

Akkari, A., Wilton, S., Dorosz, S., Callen, D., Eyre, H., Baker, L., Lim, L., Hunt, C. and Laing, N. (1995) Localization of the tropomyosin genes. In: 17th Annual Conference on the Organisation and Expression of the Genome, 13 - 17 February 1995, Erskine House, Lorne, Victoria.

Wilton, S., Akkari, A., Boundy, K., Kneebone, C., Blumberg, P., White, S., Watkins, H., Love, D. and Laing, N.G. (1995) An actin-binding site mutation in tropomyosin 3 causing autosomal dominant nemaline myopathy. In: Second Asia-Pacific Conference on Medical Genetics and Eijkman Symposium on the Molecular Biology of Disease, 19 - 23 September 1995, Shangri-La Hotel, Jakarta, Indonesia.

Wilton, S.D., Akkari, A., Dorosz, S., Boundy, K. and Kneebone, C. (1995) An actin-binding site mutation in tropomyosin 3 causing autosomal dominant nemaline myopathy. In: 17th Annual Conference on the Organisation and Expression of the Genome, 13 - 17 February 1995, Erskine House, Lorne, Victoria.

Tan, P., Wilton, S.D., Akkari, P.A., Sharp, M., Allen, J., Huxtable, C. and Laing, N.G. (1995) A splice-site mutation causes ovine McArdle's disease. In: 16th Annual Neuroscience Colloquium of Western Australia, Perth, Western Australia.