Developing insight into the molecular origins of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis

Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., & 28 othersGellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J. & FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium, Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

53 Citations (Scopus)

162 Downloads (Pure)

Cross-linking cellular prion protein induces neuronal type 2-like hypersensitivity

Adhikari, U. K., Sakiz, E., Zhou, X., Habiba, U., Kumar, S., Mikhael, M., Senesi, M., Guang Li, C., Guillemin, G. J., Ooi, L., David, M. A., Collins, S., Karl, T. & Tayebi, M., 30 Jul 2021, In: Frontiers in Immunology. 12, p. 1-23 23 p., 639008.

Research output: Contribution to journal › Article › peer-review

Open Access

File

3 Citations (Scopus)

66 Downloads (Pure)

Emerging evidence highlighting the importance of redox dysregulation in the pathogenesis of amyotrophic lateral sclerosis (ALS)

Jagaraj, C. J., Parakh, S. & Atkin, J. D., 18 Feb 2021, In: Frontiers in Cellular Neuroscience. 14, p. 1-29 29 p., 581950.

Research output: Contribution to journal › Article › peer-review

Open Access

File

22 Citations (Scopus)

178 Downloads (Pure)

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Williams, K. L. & Blair, I. P., 1 Feb 2021, In: Journal of Medical Genetics. 58, 2, p. 87-95 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

53 Citations (Scopus)

Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis

Chan Moi Fat, S., McCann, E. P., Williams, K. L., Henden, L., Twine, N. A., Bauer, D. C., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Nicholson, G. A., Fifita, J. A. & Blair, I. P., May 2021, In: Neurobiology of Aging. 101, p. 297.e11-297.e13 3 p.

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Genetic analysis of tryptophan metabolism genes in sporadic amyotrophic lateral sclerosis

Fifita, J. A., Chan Moi Fat, S., McCann, E. P., Williams, K. L., Twine, N. A., Bauer, D. C., Rowe, D. B., Pamphlett, R., Kiernan, M. C., Tan, V. X., Blair, I. P. & Guillemin, G. J., 14 Jun 2021, In: Frontiers in Immunology. 12, p. 1-8 8 p., 701550.

Research output: Contribution to journal › Article › peer-review

Open Access

File

10 Citations (Scopus)

232 Downloads (Pure)

In vivo validation of bimolecular fluorescence complementation (BiFC) to investigate aggregate formation in amyotrophic lateral sclerosis (ALS)

Don, E. K., Maschirow, A., Radford, R. A. W., Scherer, N. M., Vidal-Itriago, A., Hogan, A., Maurel, C., Formella, I., Stoddart, J. J., Hall, T. E., Lee, A., Shi, B., Cole, N. J., Laird, A. S., Badrock, A. P., Chung, R. S. & Morsch, M., May 2021, In: Molecular Neurobiology. 58, 5, p. 2061-2074 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

7 Citations (Scopus)

110 Downloads (Pure)

Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis

Hogan, A. L., Grima, N., Fifita, J. A., McCann, E. P., Heng, B., Chan Moi Fat, S., Wu, S., Maharjan, R., Cain, A. K., Henden, L., Rayner, S., Tarr, I., Zhang, K. Y., Zhao, Q., Zhang, ZH., Wright, A., Lee, A., Morsch, M., Yang, S., Williams, K. L., & 1 othersBlair, I. P., Dec 2021, In: Neuropathology and Applied Neurobiology. 47, 7, p. 990-1003 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

11 Citations (Scopus)

106 Downloads (Pure)

The behavioural phenotype of 14-month-old female TAU58/2 transgenic mice

Kreilaus, F., Masanetz, R., Watt, G., Przybyla, M., Ittner, A., Ittner, L. & Karl, T., 15 Jan 2021, In: Behavioural Brain Research. 397, p. 1-9 9 p., 112943.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Unbiased label-free quantitative proteomics of cells expressing amyotrophic lateral sclerosis (ALS) mutations in CCNF reveals activation of the apoptosis pathway: a workflow to screen pathogenic gene mutations

Cheng, F., Luca, A. D., Hogan, A. L., Rayner, S. L., Davidson, J. M., Watchon, M., Stevens, C. H., Muñoz, S. S., Ooi, L., Yerbury, J. J., Don, E. K., Fifita, J. A., Villalva, M. D., Suddull, H., Chapman, T. R., Hedl, T. J., Walker, A. K., Yang, S., Morsch, M., Shi, B., & 4 othersBlair, I. P., Laird, A. S., Chung, R. S. & Lee, A., 27 Apr 2021, In: Frontiers in Molecular Neuroscience. 14, p. 1-18 18 p., 627740.

Research output: Contribution to journal › Article › peer-review

Open Access

File

13 Citations (Scopus)

97 Downloads (Pure)

2020

A simple differentiation protocol for generation of induced pluripotent stem cell-derived basal forebrain-like cholinergic neurons for Alzheimer’s disease and frontotemporal dementia disease modeling

Muñoz, S. S., Engel, M., Balez, R., Do-Ha, D., Cabral-da-Silva, M. C., Hernández, D., Berg, T., Fifita, J. A., Grima, N., Yang, S., Blair, I. P., Nicholson, G., Cook, A. L., Hewitt, A. W., Pébay, A. & Ooi, L., 2 Sept 2020, In: Cells. 9, 9, p. 1-17 17 p., 2018.

Research output: Contribution to journal › Article › peer-review

Open Access

File

27 Citations (Scopus)

70 Downloads (Pure)

Chronic cannabidiol (CBD) treatment did not exhibit beneficial effects in 4-month-old male TAU58/2 transgenic mice

Watt, G., Chesworth, R., Przybyla, M., Ittner, A., Garner, B., Ittner, L. & Karl, T., Sept 2020, In: Pharmacology, Biochemistry and Behavior. 196, p. 1-9 9 p., 172970.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Citations (Scopus)

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Dobson-Stone, C., Hallupp, M., Shahheydari, H., Ragagnin, A. M. G., Chatterton, Z., Carew-Jones, F., Shepherd, C. E., Stefen, H., Paric, E., Fath, T., Thompson, E. M., Blumbergs, P., Short, C. L., Field, C. D., Panegyres, P. K., Hecker, J., Nicholson, G., Shaw, A. D., Fullerton, J. M., Luty, A. A., & 19 othersSchofield, P. R., Brooks, W. S., Rajan, N., Bennett, M. F., Bahlo, M., Shankaracharya, Landers, J. E., Piguet, O., Hodges, J. R., Halliday, G. M., Topp, S. D., Smith, B. N., Shaw, C. E., McCann, E., Fifita, J. A., Williams, K. L., Atkin, J. D., Blair, I. P. & Kwok, J. B., 1 Mar 2020, In: Brain : a journal of neurology. 143, 3, p. 783-799 17 p.

Research output: Contribution to journal › Article › peer-review

63 Citations (Scopus)

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 journal › Article › peer-review

10 Citations (Scopus)

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

Henden, L., Twine, N. A., Szul, P., McCann, E. P., Nicholson, G. A., Rowe, D. B., Kiernan, M. C., Bauer, D. C., Blair, I. P. & Williams, K. L., 7 Aug 2020, In: npj Genomic Medicine. 5, 1, p. 1-8 8 p., 32.

Research output: Contribution to journal › Article › peer-review

Open Access

File

17 Citations (Scopus)

87 Downloads (Pure)

Novel behavioural characteristics of male human P301S mutant tau transgenic mice: a model for tauopathy

Watt, G., Przybyla, M., Zak, V., van Eersel, J., Ittner, A., Ittner, L. & Karl, T., 1 Apr 2020, In: Neuroscience. 431, p. 166-175 10 p.

Research output: Contribution to journal › Article › peer-review

15 Citations (Scopus)

Onset of hippocampal network aberration and memory deficits in P301S tau mice are associated with an early gene signature

Przybyla, M., Van Eersel, J., van Hummel, A., van der Hoven, J., Sabale, M., Harasta, A., Müller, J., Gajwani, M., Prikas, E., Mueller, T., Stevens, C. H., Power, J., Housley, G. D., Karl, T., Kassiou, M., Ke, Y. D., Ittner, A. & Ittner, L. M., Jun 2020, In: Brain. 143, 6, p. 1889-1904 16 p.

Research output: Contribution to journal › Article › peer-review

15 Citations (Scopus)

The mRNA-based reprogramming of fibroblasts from a SOD1^E101G 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 journal › Article › peer-review

Open Access

File

2 Citations (Scopus)

49 Downloads (Pure)

The redox activity of protein disulfide isomerase inhibits ALS phenotypes in cellular and zebrafish models

Parakh, S., Shadfar, S., Perri, E. R., Ragagnin, A. M. G., Piattoni, C. V., Fogolín, M. B., Yuan, K. C., Shahheydari, H., Don, E. K., Thomas, C. J., Hong, Y., Comini, M. A., Laird, A. S., Spencer, D. M. & Atkin, J. D., 22 May 2020, In: iScience. 23, 5, p. 1-27 43 p., 101097.

Research output: Contribution to journal › Article › peer-review

Open Access

File

26 Citations (Scopus)

105 Downloads (Pure)

Ubiquitin homeostasis is disrupted in TDP-43 and FUS cell models of ALS

Farrawell, N. E., McAlary, L., Lum, J. S., Chisholm, C. G., Warraich, S. T., Blair, I. P., Vine, K. L., Saunders, D. N. & Yerbury, J. J., 20 Nov 2020, In: iScience. 23, 11, p. 1-13 28 p., 101700.

Research output: Contribution to journal › Article › peer-review

Open Access

File

34 Citations (Scopus)

272 Downloads (Pure)

“STRESSED OUT”: the role of FUS and TDP-43 in amyotrophic lateral sclerosis

Aksoy, Y. A., Deng, W., Stoddart, J., Chung, R., Guillemin, G., Cole, N. J., Neely, G. G. & Hesselson, D., 1 Sept 2020, In: International Journal of Biochemistry and Cell Biology. 126, p. 1-7 7 p., 105821.

Research output: Contribution to journal › Article › peer-review

15 Citations (Scopus)

2019

Sphingosine kinase 2 potentiates amyloid deposition but protects against hippocampal volume loss and demyelination in a mouse model of Alzheimer's disease

Lei, M., Teo, J. D., Song, H., McEwen, H. P., Yup Lee, J., Couttas, T. A., Duncan, T., Chesworth, R., Bertz, J., Przybyla, M., Van Eersel, J., Heng, B., Guillemin, G. J., Ittner, L. M., Fath, T., Garner, B., Ittner, A., Karl, T. & Don, A. S., 27 Nov 2019, In: The Journal of Neuroscience. 39, 48, p. 9645-9659 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

23 Citations (Scopus)

96 Downloads (Pure)

2018

Genome-wide analyses identify KIF5A as a novel ALS gene

Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., van der Spek, R., Pliner, H. A., Shankaracharya, Smith, B. N., Marangi, G., & 193 othersTopp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., ITALSGEN Consortium, Mora, G., Calvo, A., Mazzini, L., Riva, N., Mandrioli, J., Caponnetto, C., Battistini, S., Volanti, P., La Bella, V., Conforti, F. L., Borghero, G., Messina, S., Simone, I. L., Trojsi, F., Salvi, F., Logullo, F. O., D'Alfonso, S., Corrado, L., Capasso, M., Ferrucci, L., Genomic Translation for ALS Care (GTAC) Consortium, Moreno, C. D. A. M., Kamalakaran, S., Goldstein, D. B., ALS Sequencing Consortium, Gitler, A. D., Harris, T., Myers, R. M., NYGC ALS Consortium, Phatnani, H., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Answer ALS Foundation, Kaye, J., Finkbeiner, S., Wyman, S. K., LeNail, A., Lima, L., Fraenkel, E., Svendsen, C. N., Thompson, L. M., Van Eyk, J. E., Berry, J. D., Miller, T. M., Kolb, S. J., Cudkowicz, M., Baxi, E., Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, M., Taylor, J. P., Rampersaud, E., Wu, G., Wuu, J., SLAGEN Consortium, Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Sorarù, G., Cereda, C., French ALS Consortium, Corcia, P., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, M., Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Malaspina, A., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Al-Saraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., Baas, F., ten Asbroek, A. L. M. A., Muñoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, F., Bowser, R., Pulst, S. M., Ravits, J. M., MacGowan, D. J. L., Kirby, J., Pioro, E. P., Pamphlett, R., Broach, J., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Mouzat, K., Lumbroso, S., Heiman-Patterson, T. D., Kamel, F., van den Bosch, L., Baloh, R. H., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., McLaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Rademakers, R., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Rouleau, G. A., Esteban-Pérez, J., García-Redondo, A., Al-Chalabi, A., Project MinE ALS Sequencing Consortium, Rogaeva, E., Zinman, L., Ostrow, L. W., Maragakis, N. J., Rothstein, J. D., Simmons, Z., Cooper-Knock, J., Brice, A., Goutman, S. A., Feldman, E. L., Gibson, S. B., Taroni, F., Ratti, A., Gellera, C., Van Damme, P., Robberecht, W., Fratta, P., Sabatelli, M., Lunetta, C., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Camu, W., Trojanowski, J. Q., Van Deerlin, V. M., Brown, R. H., van den Berg, L. H., Veldink, J. H., Harms, M. B., Glass, J. D., Stone, D. J., Tienari, P., Silani, V., Chiò, A., Shaw, C. E., Traynor, B. J. & Landers, J. E., 21 Mar 2018, In: Neuron. 97, 6, p. 1268-1283 16 p.

Research output: Contribution to journal › Article › peer-review

482 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 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 journal › Article › peer-review

40 Citations (Scopus)

2017

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro

Fifita, J. A., Williams, K. L., Sundaramoorthy, V., Mccann, E. P., Nicholson, G. A., Atkin, J. D. & Blair, I. P., 2 Jan 2017, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 18, 1-2, p. 126-133 8 p.

Research output: Contribution to journal › Article › peer-review

29 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 journal › Article › peer-review

26 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 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 journal › Article › peer-review

Open Access

File

171 Citations (Scopus)

188 Downloads (Pure)

Developing insight into the molecular origins of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis

Research output

Search results