• 751 Citations
  • 14 h-Index
20072020

Research output per year

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Research Outputs

  • 751 Citations
  • 14 h-Index
  • 25 Article
  • 3 Meeting abstract
  • 2 Review article
  • 1 Abstract
2020

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

McCann, E. P., Fifita, J. A., Grima, N., Galper, J., Mehta, P., Freckleton, S. E., Zhang, K. Y., Henden, L., Hogan, A. L., Chan Moi Fat, S., Wu, S. S. L., Jagaraj, C. J., Berning, B. A., Williams, K. L., Twine, N. A., Bauer, D., Piguet, O., Hodges, J., Kwok, J. B. J., Halliday, G. M. & 7 others, Kiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 1 Feb 2020, In : Journal of Neurology, Neurosurgery and Psychiatry. 91, 2, p. 162-171 10 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

The mRNA-based reprogramming of fibroblasts from a SOD1E101G familial amyotrophic lateral sclerosis patient to induced pluripotent stem cell line UOWi007

Balez, R., Berg, T., Bax, M., Muñoz, S. S., Cabral-da-Silva, M. C., Engel, M., Do-Ha, D., Stevens, C. H., Rowe, D., Yang, S., Blair, I. P. & Ooi, L., 1 Jan 2020, In : Stem Cell Research. 42, p. 1-4 4 p., 101701.

Research output: Contribution to journalArticle

Open Access
File
3 Downloads (Pure)
2019

A functional pipeline for the validation of novel amyotrophic lateral sclerosis (ALS) candidate genes

Yang, S., Wu, S., Fifita, J., McCann, E., Fat, S. C. M., Galper, J., Freckleton, S., Zhang, K. Y. & Blair, I. P., 1 Nov 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, Supplement 1, p. 135 1 p., IVT-01.

Research output: Contribution to journalMeeting abstract

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming

Bax, M., Balez, R., Muñoz, S. S., Do-Ha, D., Stevens, C. H., Berg, T., Cabral-da-Silva, M. C., Engel, M., Nicholson, G., Yang, S., Blair, I. P. & Ooi, L., 1 Oct 2019, In : Stem Cell Research. 40, p. 1-4 4 p., 101530.

Research output: Contribution to journalArticle

Open Access
File
9 Downloads (Pure)
2018

DNA nanoclew templated spherical nucleic acids for siRNA delivery

Ruan, W., Zheng, M., An, Y., Liu, Y., Lovejoy, D., Hao, M., Zou, Y., Lee, A., Yang, S., Lu, Y., Morsch, M., Chung, R. & Shi, B., 14 Apr 2018, In : Chemical Engineering Communications. 54, p. 3609-3612 4 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)

ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis

Parakh, S., Jagaraj, C. J., Vidal, M., Ragagnin, A. M. G., Perri, E. R., Konopka, A., Toth, R. P., Galper, J., Blair, I. P., Thomas, C. J., Walker, A. K., Yang, S., Spencer, D. M. & Atkin, J. D., 15 Apr 2018, In : Human Molecular Genetics. 27, 8, p. 1311-1331 21 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

Lee, A., Rayner, S. L., Gwee, S. S. L., De Luca, A., Shahheydari, H., Sundaramoorthy, V., Ragagnin, A., Morsch, M., Radford, R., Galper, J., Freckleton, S., Shi, B., Walker, A. K., Don, E. K., Cole, N. J., Yang, S., Williams, K. L., Yerbury, J. J., Blair, I. P., Atkin, J. D. & 2 others, Molloy, M. P. & Chung, R. S., Jan 2018, In : Cellular and Molecular Life Sciences. 75, 2, p. 335–354 20 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)
2017

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex

Lee, A., Rayner, S. L., De Luca, A., Gwee, S. S. L., Morsch, M., Sundaramoorthy, V., Shahheydari, H., Ragagnin, A., Shi, B., Yang, S., Williams, K. L., Don, E. K., Walker, A. K., Zhang, K. Y., Yerbury, J. J., Cole, N. J., Atkin, J. D., Blair, I. P., Molloy, M. P. & Chung, R. S., 2017, In : Open Biology. 7, 10, p. 1-11 11 p., 170058.

Research output: Contribution to journalArticle

Open Access
File
6 Citations (Scopus)
13 Downloads (Pure)
7 Citations (Scopus)

Genetic and pathological assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in familial and sporadic amyotrophic lateral sclerosis

Fifita, J. A., Zhang, K. Y., Galper, J., Williams, K. L., McCann, E. P., Hogan, A. L., Saunders, N., Bauer, D., Tarr, I. S., Pamphlett, R., Nicholson, G. A., Rowe, D., Yang, S. & Blair, I. P., 1 Dec 2017, In : Neurodegenerative Diseases. 17, 6, p. 304-312 9 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway

Moujalled, D., Grubman, A., Acevedo, K., Yang, S., Ke, Y. D., Moujalled, D. M., Duncan, C., Caragounis, A., Perera, N. D., Turner, B. J., Prudencio, M., Petrucelli, L., Blair, I., Ittner, L. M., Crouch, P. J., Liddell, J. R. & White, A. R., 1 May 2017, In : Human Molecular Genetics. 26, 9, p. 1732-1746 15 p., ddx093.

Research output: Contribution to journalArticle

17 Citations (Scopus)
2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Williams, K. L., Topp, S., Yang, S., Smith, B., Fifita, J. A., Warraich, S. T., Zhang, K. Y., Farrawell, N., Vance, C., Hu, X., Chesi, A., Leblond, C. S., Lee, A., Rayner, S. L., Sundaramoorthy, V., Dobson-Stone, C., Molloy, M. P., Van Blitterswijk, M., Dickson, D. W., Petersen, R. C. & 48 others, Graff-Radford, N. R., Boeve, B. F., Murray, M. E., Pottier, C., Don, E., Winnick, C., McCann, E. P., Hogan, A., Daoud, H., Levert, A., Dion, P. A., Mitsui, J., Ishiura, H., Takahashi, Y., Goto, J., Kost, J., Gellera, C., Gkazi, A. S., Miller, J., Stockton, J., Brooks, W. S., Boundy, K., Polak, M., Muñoz-Blanco, J. L., Esteban-Pérez, J., Rábano, A., Hardiman, O., Morrison, K. E., Ticozzi, N., Silani, V., De Belleroche, J., Glass, J. D., Kwok, J. B. J., Guillemin, G. J., Chung, R. S., Tsuji, S., Brown, R. H., García-Redondo, A., Rademakers, R., Landers, J. E., Gitler, A. D., Rouleau, G. A., Cole, N. J., Yerbury, J. J., Atkin, J. D., Shaw, C. E., Nicholson, G. A. & Blair, I. P., 15 Apr 2016, In : Nature Communications. 7, p. 1-8 8 p., 11253.

Research output: Contribution to journalArticle

Open Access
File
83 Citations (Scopus)
15 Downloads (Pure)
2015

Evaluation of skin fibroblasts from amyotrophic lateral sclerosis patients for the rapid study of pathological features

Yang, S., Zhang, K. Y., Kariawasam, R., Bax, M., Fifita, J. A., Ooi, L., Yerbury, J. J., Nicholson, G. A. & Blair, I. P., 2 Aug 2015, In : Neurotoxicity Research. 28, 2, p. 138-146 9 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43

Moujalled, D., James, J. L., Yang, S., Zhang, K., Duncan, C., Moujalled, D. M., Parker, S. J., Caragounis, A., Lidgerwood, G., Turner, B. J., Atkin, J. D., Grubman, A., Liddell, J. R., Proepper, C., Boeckers, T. M., Kanninen, K. M., Blair, I., Crouch, P. J. & White, A. R., 15 Mar 2015, In : Human Molecular Genetics. 24, 6, p. 1655-1669 15 p., ddu578.

Research output: Contribution to journalArticle

19 Citations (Scopus)
2014

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Farg, M. A., Sundaramoorthy, V., Sultana, J. M., Yang, S., Atkinson, R. A. K., Levina, V., Halloran, M. A., Gleeson, P. A., Blair, I. P., Soo, K. Y., King, A. E. & Atkin, J. D., Jul 2014, In : Human Molecular Genetics. 23, 13, p. 3579-3595 17 p., ddu068.

Research output: Contribution to journalArticle

214 Citations (Scopus)

Ubiquilin 2: A component of the ubiquitin-proteasome system with an emerging role in neurodegeneration

Zhang, K. Y., Yang, S., Warraich, S. T. & Blair, I. P., 2014, In : International Journal of Biochemistry and Cell Biology. 50, p. 123-126 4 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)
2013

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

Yang, S., Fifita, J. A., Williams, K. L., Warraich, S. T., Pamphlett, R., Nicholson, G. A. & Blair, I. P., Sep 2013, In : Neurobiology of Aging. 34, 9, p. 2235.e7-2235.e10 4 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)
2012

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

Solski, J. A., Yang, S., Nicholson, G. A., Luquin, N., Williams, K. L., Fernando, R., Pamphlett, R. & Blair, I. P., Sep 2012, In : Amyotrophic Lateral Sclerosis. 13, 5, p. 465-470 6 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

Solski, J. A., Williams, K. L., Yang, S., Nicholson, G. A. & Blair, I. P., Jan 2012, In : Neurobiology of Aging. 33, 1, p. 210.e9–210.e10 2 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

Williams, K. L., Warraich, S. T., Yang, S., Solski, J. A., Fernando, R., Rouleau, G. A., Nicholson, G. A. & Blair, I. P., Oct 2012, In : Neurobiology of Aging. 33, 10, p. 2527.e3–2527.e10 8 p.

Research output: Contribution to journalArticle

99 Citations (Scopus)
2010

Endosomal disruptors in non-viral gene delivery

Minchin, R. F. & Yang, S., 2010, In : Expert Opinion on Drug Delivery. 7, 3, p. 331-339 9 p.

Research output: Contribution to journalArticle

21 Citations (Scopus)

Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein

Yang, S., Warraich, S. T., Nicholson, G. A. & Blair, I. P., Sep 2010, In : International Journal of Biochemistry and Cell Biology. 42, 9, p. 1408-1411 4 p.

Research output: Contribution to journalReview article

20 Citations (Scopus)

Molecular genetic insights into ALS

Blair, I. P., Williams, K., Yang, S., Warraich, S. T., Solski, J., Durnall, J. C., Thoeng, A. D. & Nicholson, G. A., Oct 2010, In : Journal of Neurochemistry. 115, s1, p. 4-4 1 p.

Research output: Contribution to journalMeeting abstract

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases

Warraich, S. T., Yang, S., Nicholson, G. A. & Blair, I. P., Oct 2010, In : International Journal of Biochemistry and Cell Biology. 42, 10, p. 1606-1609 4 p.

Research output: Contribution to journalReview article

40 Citations (Scopus)
2009

Cellular uptake of self-assembled cationic peptide-DNA complexes: multifunctional role of the enhancer chloroquine

Yang, S., Coles, D. J., Esposito, A., Mitchell, D. J., Toth, I. & Minchin, R. F., 2009, In : Journal of Controlled Release. 135, 2, p. 159-165 7 p.

Research output: Contribution to journalArticle

62 Citations (Scopus)
2008

The Characterization of a novel dendritic system for gene delivery by isothermal titration calorimetry

Coles, D. J., Yang, S., Minchin, R. F. & Toth, I., 2008, In : Biopolymers. 90, 5, p. 651-654 4 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)
2007

The synthesis and characterisation of a novel dendritic system for gene delivery

Coles, D. J., Yang, S., Esposito, A., Mitchell, D., Minchin, R. F. & Toth, I., 3 Dec 2007, In : Tetrahedron. 63, 49, p. 12207-12214 8 p.

Research output: Contribution to journalArticle

26 Citations (Scopus)