• 686 Citations
  • 13 h-Index
20072022
If you made any changes in Pure these will be visible here soon.

Research Outputs 2007 2020

  • 686 Citations
  • 13 h-Index
  • 23 Article
  • 3 Meeting abstract
  • 2 Review article
  • 1 Abstract
Filter
Article
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 othersKiernan, 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 journalArticleResearchpeer-review

Sclerosis
DNA-Binding Proteins
Transgenic Mice
Spinal Cord
Proteins
2019

Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress

Halloran, M., Ragagnin, A. M. G., Vidal, M., Parakh, S., Yang, S., Heng, B., Grima, N., Shahheydari, H., Soo, K-Y., Blair, I., Guillemin, G. J., Sundaramoorthy, V. & Atkin, J. D., 4 Dec 2019, In : Cellular and Molecular Life Sciences. 15 p.

Research output: Contribution to journalArticleResearchpeer-review

Endoplasmic Reticulum Stress
Amyotrophic Lateral Sclerosis
Endoplasmic Reticulum
Protein Transport
Endoplasmic Reticulum-Associated Degradation

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 journalArticleResearchpeer-review

Open Access
File
Induced Pluripotent Stem Cells
Cyclins
Amyotrophic Lateral Sclerosis
Fibroblasts
Cell Line
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 journalArticleResearchpeer-review

Nucleic acids
Nucleic Acids
Small Interfering RNA
DNA
Ribonuclease III

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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Endoplasmic Reticulum Stress
Pathology
Apoptosis
DNA-Binding Proteins

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 othersMolloy, M. P. & Chung, R. S., Jan 2018, In : Cellular and Molecular Life Sciences. 75, 2, p. 335–354 20 p.

Research output: Contribution to journalArticleResearchpeer-review

Cyclins
Ubiquitination
Autophagy
Mutation
Genes
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 journalArticleResearchpeer-review

Open Access
File
Casein Kinase II
Phosphorylation
Cyclins
Ubiquitin-Protein Ligases
Ubiquitination

Cyclin F: a component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer

Galper, J., Rayner, S. L., Hogan, A. L., Fifita, J. A., Lee, A., Chung, R. S., Blair, I. P. & Yang, S., 1 Aug 2017, In : International Journal of Biochemistry and Cell Biology. 89, p. 216-220 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Cyclins
Ubiquitin-Protein Ligases
Cell Cycle Checkpoints
Frontotemporal Dementia
Neoplasms

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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Mutation
Heterogeneous-Nuclear Ribonucleoproteins
Prions
Motor Neurons

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 journalArticleResearchpeer-review

Heterogeneous-Nuclear Ribonucleoprotein K
RNA-Binding Proteins
Amyotrophic Lateral Sclerosis
DNA-Binding Proteins
Antioxidants
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 othersGraff-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 journalArticleResearchpeer-review

Open Access
File
Ubiquitinated Proteins
mutations
Ubiquitin-Protein Ligase Complexes
proteins
Mutation
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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Fibroblasts
Ubiquitin
Skin
Proteasome Endopeptidase Complex

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 journalArticleResearchpeer-review

Cyclin-Dependent Kinase 2
Ribonucleoproteins
DNA-Binding Proteins
Phosphorylation
Amyotrophic Lateral Sclerosis
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., 2014, In : Human molecular genetics. 23, 13, p. 3579-3595 17 p., ddu068.

Research output: Contribution to journalArticleResearchpeer-review

Frontotemporal Dementia
Motor Neuron Disease
Reading
Autophagy
Motor Neurons

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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Proteasome Endopeptidase Complex
Ubiquitin
Neurodegenerative diseases
Cell signaling
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 journalArticleResearchpeer-review

Mutation
Amyotrophic Lateral Sclerosis
Profilins
Microfilament Proteins
Motor Neurons
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 journalArticleResearchpeer-review

INDEL Mutation
Amyotrophic Lateral Sclerosis
Mutation
Fibroblasts
Frontotemporal Lobar Degeneration

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 journalArticleResearchpeer-review

Mutation
Genes
Pedigree
Serine
Animal Models

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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Pathology
Mutation
Frontotemporal Dementia
Sarcoma
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 journalArticleResearchpeer-review

Endosomes
Transgenes
Gene Expression
Genes
Endocytosis
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 journalArticleResearchpeer-review

Chloroquine
Nuclear Localization Signals
Peptides
DNA
Cell-Penetrating Peptides
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 journalArticleResearchpeer-review

Dendrimers
Calorimetry
Titration
Genes
DNA
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 journalArticleResearchpeer-review

Gene Transfer Techniques
Genes
Cell-Penetrating Peptides
Dendrimers
Nuclear Localization Signals