Ubiquitin Homeostasis Is Disrupted in TDP-43 and FUS Cell Models of ALS

by Natalie E. Farrawell, Luke McAlary, Jeremy S. Lum, Christen G. Chisholm, Sadaf T. Warraich, Ian P. Blair, Kara L. Vine, Darren N. Saunders, Justin J. Yerbury
Published 2020-11-01

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

by Rachelle Balez, Tracey Berg, Monique Bax, Sonia Sanz Muñoz, Mauricio C. Cabral-da-Silva, Martin Engel, Dzung Do-Ha, Claire H. Stevens, Dominic Rowe, Shu Yang, Ian P. Blair, Lezanne Ooi
Published 2020-01-01

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis pati...

by Monique Bax, Rachelle Balez, Sonia Sanz Muñoz, Dzung Do-Ha, Claire H. Stevens, Tracey Berg, Mauricio C. Cabral-da-Silva, Martin Engel, Garth Nicholson, Shu Yang, Ian P. Blair, Lezanne Ooi
Published 2019-10-01

Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells.

by Jamie Rae Acosta, Claire Goldsbury, Claire Winnick, Andrew P Badrock, Stuart T Fraser, Angela S Laird, Thomas E Hall, Emily K Don, Jennifer A Fifita, Ian P Blair, Garth A Nicholson, Nicholas J Cole
Published 2014-01-01

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

by Jamie R. Acosta, Maxinne Watchon, Kristy C. Yuan, Jennifer A. Fifita, Adam J. Svahn, Emily K. Don, Claire G. Winnick, Ian P. Blair, Garth A. Nicholson, Nicholas J. Cole, Claire Goldsbury, Angela S. Laird
Published 2018-10-01

A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer’s Disease and Frontotemporal Dement...

by Sonia Sanz Muñoz, Martin Engel, Rachelle Balez, Dzung Do-Ha, Mauricio Castro Cabral-da-Silva, Damian Hernández, Tracey Berg, Jennifer A. Fifita, Natalie Grima, Shu Yang, Ian P. Blair, Garth Nicholson, Anthony L. Cook, Alex W. Hewitt, Alice Pébay, Lezanne Ooi
Published 2020-09-01

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

by Albert Lee, Stephanie L. Rayner, Alana De Luca, Serene S. L. Gwee, Marco Morsch, Vinod Sundaramoorthy, Hamideh Shahheydari, Audrey Ragagnin, Bingyang Shi, Shu Yang, Kelly L. Williams, Emily K. Don, Adam K. Walker, Katharine Y. Zhang, Justin J. Yerbury, Nicholas J. Cole, Julie D. Atkin, Ian P. Blair, Mark P. Molloy, Roger S. Chung
Published 2017-01-01

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis

by Jennifer A. Fifita, Sandrine Chan Moi Fat, Emily P. McCann, Kelly L. Williams, Natalie A. Twine, Natalie A. Twine, Denis C. Bauer, Denis C. Bauer, Denis C. Bauer, Dominic B. Rowe, Dominic B. Rowe, Roger Pamphlett, Roger Pamphlett, Roger Pamphlett, Matthew C. Kiernan, Matthew C. Kiernan, Vanessa X. Tan, Ian P. Blair, Gilles J. Guillemin
Published 2021-06-01

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

by Anna Konopka, Donna R. Whelan, Md Shafi Jamali, Emma Perri, Hamideh Shahheydari, Reka P. Toth, Sonam Parakh, Tina Robinson, Alison Cheong, Prachi Mehta, Marta Vidal, Audrey M. G. Ragagnin, Ivan Khizhnyak, Cyril J. Jagaraj, Jasmin Galper, Natalie Grima, Anand Deva, Sina Shadfar, Garth A. Nicholson, Shu Yang, Suzanne M. Cutts, Zuzana Horejsi, Toby D. M. Bell, Adam K. Walker, Ian P. Blair, Julie D. Atkin
Published 2020-09-01

Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Scr...

by Flora Cheng, Alana De Luca, Alison L. Hogan, Stephanie L. Rayner, Jennilee M. Davidson, Maxinne Watchon, Claire H. Stevens, Claire H. Stevens, Sonia Sanz Muñoz, Sonia Sanz Muñoz, Lezanne Ooi, Lezanne Ooi, Justin J. Yerbury, Justin J. Yerbury, Emily K. Don, Jennifer A. Fifita, Maria D. Villalva, Hannah Suddull, Tyler R. Chapman, Thomas J. Hedl, Adam K. Walker, Adam K. Walker, Shu Yang, Marco Morsch, Bingyang Shi, Ian P. Blair, Angela S. Laird, Roger S. Chung, Albert Lee
Published 2021-04-01

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

by Beben Benyamin, Ji He, Qiongyi Zhao, Jacob Gratten, Fleur Garton, Paul J. Leo, Zhijun Liu, Marie Mangelsdorf, Ammar Al-Chalabi, Lisa Anderson, Timothy J. Butler, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Matthew Devine, Janette Edson, Jennifer A. Fifita, Sarah Furlong, Ying-Ying Han, Jessica Harris, Anjali K. Henders, Rosalind L. Jeffree, Zi-Bing Jin, Zhongshan Li, Ting Li, Mengmeng Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Emily P. McCann, Bryan J. Mowry, Shyuan T. Ngo, Roger Pamphlett, Shu Ran, David C. Reutens, Dominic B. Rowe, Perminder Sachdev, Sonia Shah, Sharon Song, Li-Jun Tan, Lu Tang, Leonard H. van den Berg, Wouter van Rheenen, Jan H. Veldink, Robyn H. Wallace, Lawrie Wheeler, Kelly L. Williams, Jinyu Wu, Xin Wu, Jian Yang, Weihua Yue, Zong-Hong Zhang, Dai Zhang, Peter G. Noakes, Ian P. Blair, Robert D. Henderson, Pamela A. McCombe, Peter M. Visscher, Huji Xu, Perry F. Bartlett, Matthew A. Brown, Naomi R. Wray, Dongsheng Fan
Published 2017-09-01

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

by Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Published 2016-04-01

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

by Marta F. Nabais, Simon M. Laws, Tian Lin, Costanza L. Vallerga, Nicola J. Armstrong, Ian P. Blair, John B. Kwok, Karen A. Mather, George D. Mellick, Perminder S. Sachdev, Leanne Wallace, Anjali K. Henders, Ramona A. J. Zwamborn, Paul J. Hop, Katie Lunnon, Ehsan Pishva, Janou A. Y. Roubroeks, Hilkka Soininen, Magda Tsolaki, Patrizia Mecocci, Simon Lovestone, Iwona Kłoszewska, Bruno Vellas, the Australian Imaging Biomarkers and Lifestyle study, the Alzheimer’s Disease Neuroimaging Initiative, Sarah Furlong, Fleur C. Garton, Robert D. Henderson, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Shyuan T. Ngo, Garth Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Tim J. Anderson, Steven R. Bentley, John Dalrymple-Alford, Javed Fowder, Jacob Gratten, Glenda Halliday, Ian B. Hickie, Martin Kennedy, Simon J. G. Lewis, Grant W. Montgomery, John Pearson, Toni L. Pitcher, Peter Silburn, Futao Zhang, Peter M. Visscher, Jian Yang, Anna J. Stevenson, Robert F. Hillary, Riccardo E. Marioni, Sarah E. Harris, Ian J. Deary, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Wouter van Rheenen, Leonard H. van den Berg, Pamela J. Shaw, Cristopher E. Shaw, Karen E. Morrison, Ammar Al-Chalabi, Jan H. Veldink, Eilis Hannon, Jonathan Mill, Naomi R. Wray, Allan F. McRae
Published 2021-03-01