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

Autor: Farrawell NE; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia.; Molecular Horizons and School of Chemistry and Molecular Bioscience, Science Medicine and Health Faculty, University of Wollongong, Northfields Avenue, Wollongong, NSW 2522, Australia., McAlary L; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia.; Molecular Horizons and School of Chemistry and Molecular Bioscience, Science Medicine and Health Faculty, University of Wollongong, Northfields Avenue, Wollongong, NSW 2522, Australia., Lum JS; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia.; Molecular Horizons and School of Chemistry and Molecular Bioscience, Science Medicine and Health Faculty, University of Wollongong, Northfields Avenue, Wollongong, NSW 2522, Australia., Chisholm CG; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia.; Molecular Horizons and School of Chemistry and Molecular Bioscience, Science Medicine and Health Faculty, University of Wollongong, Northfields Avenue, Wollongong, NSW 2522, Australia., Warraich ST; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., Vine KL; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia.; Molecular Horizons and School of Chemistry and Molecular Bioscience, Science Medicine and Health Faculty, University of Wollongong, Northfields Avenue, Wollongong, NSW 2522, Australia., Saunders DN; School of Medical Sciences, Faculty of Medicine, UNSW, Sydney, NSW 2052, Australia., Yerbury JJ; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia.; Molecular Horizons and School of Chemistry and Molecular Bioscience, Science Medicine and Health Faculty, University of Wollongong, Northfields Avenue, Wollongong, NSW 2522, Australia.

Publikováno v: IScience [iScience] 2020 Oct 20; Vol. 23 (11), pp. 101700. Date of Electronic Publication: 2020 Oct 20 (Print Publication: 2020).

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Autor: Williams KL; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales 2006, Australia., Topp S; Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK., Yang S; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales 2139, Australia., Smith B; Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK., Fifita JA; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales 2139, Australia., Warraich ST; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Zhang KY; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Farrawell N; Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong, Wollongong, New South Wales 2522, Australia., Vance C; Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK., Hu X; Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK., Chesi A; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Leblond CS; Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada H3A 2B4.; Pathology and Cellular Biology Department, Montreal University, Montreal, QC H3T 1J4 Québec, Canada., Lee A; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Australian Proteome Analysis Facility, Macquarie University, Sydney, New South Wales 2109, Australia., Rayner SL; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Sundaramoorthy V; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Department of Biochemistry, La Trobe University, Melbourne, Victoria 3086, Australia., Dobson-Stone C; Neuroscience Research Australia, Randwick, Sydney, New South Wales 2031, Australia.; School of Medical Sciences, University of New South Wales, Kensington, Sydney, New South Wales 2052, Australia., Molloy MP; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Australian Proteome Analysis Facility, Macquarie University, Sydney, New South Wales 2109, Australia., van Blitterswijk M; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA., Dickson DW; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA., Petersen RC; Department of Neurology, Mayo Clinic Rochester, Rochester, Minneapolis 55905, USA., Graff-Radford NR; Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, 32224, USA., Boeve BF; Department of Neurology, Mayo Clinic Rochester, Rochester, Minneapolis 55905, USA., Murray ME; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA., Pottier C; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA., Don E; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Winnick C; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., McCann EP; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Hogan A; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Daoud H; Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada H3A 2B4.; Pathology and Cellular Biology Department, Montreal University, Montreal, QC H3T 1J4 Québec, Canada., Levert A; Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada H3A 2B4.; Pathology and Cellular Biology Department, Montreal University, Montreal, QC H3T 1J4 Québec, Canada., Dion PA; Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada H3A 2B4.; Pathology and Cellular Biology Department, Montreal University, Montreal, QC H3T 1J4 Québec, Canada., Mitsui J; Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo, Tokyo 113-8655, Japan., Ishiura H; Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo, Tokyo 113-8655, Japan., Takahashi Y; Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo, Tokyo 113-8655, Japan., Goto J; Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo, Tokyo 113-8655, Japan., Kost J; Worcester Polytechnic Institute, Worcester, Massachusetts 01609, USA.; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy., Gkazi AS; Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK., Miller J; Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK., Stockton J; School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK., Brooks WS; Neuroscience Research Australia, Randwick, Sydney, New South Wales 2031, Australia., Boundy K; The Queen Elizabeth Hospital, Woodville South, South Australia 5011, Australia., Polak M; Department of Neurology, Emory University, Atlanta, Georgia 30322, USA., Muñoz-Blanco JL; Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid, Sermas 28007, Spain., Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, Sermas 28041, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid 28029, Spain., Rábano A; Banco de Tejidos, Centro Alzheimer-Fundación Reina Sofia, Fundación CIEN, Madrid 28071, Spain., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Republic of Ireland., Morrison KE; School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.; Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK.; Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center-Università degli Studi di Milano, 20122 Milan, Italy., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center-Università degli Studi di Milano, 20122 Milan, Italy., de Belleroche J; Neurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, London W12 0NN, UK., Glass JD; Department of Neurology, Emory University, Atlanta, Georgia 30322, USA., Kwok JB; Neuroscience Research Australia, Randwick, Sydney, New South Wales 2031, Australia.; School of Medical Sciences, University of New South Wales, Kensington, Sydney, New South Wales 2052, Australia., Guillemin GJ; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Chung RS; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia., Tsuji S; Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo, Tokyo 113-8655, Japan.; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan., Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA., García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, Sermas 28041, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid 28029, Spain., Rademakers R; Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA., Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Rouleau GA; Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada H3A 2B4.; Pathology and Cellular Biology Department, Montreal University, Montreal, QC H3T 1J4 Québec, Canada., Cole NJ; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales 2006, Australia., Yerbury JJ; Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong, Wollongong, New South Wales 2522, Australia., Atkin JD; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Department of Biochemistry, La Trobe University, Melbourne, Victoria 3086, Australia., Shaw CE; Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK., Nicholson GA; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales 2006, Australia.; Molecular Medicine Laboratory, Concord Hospital, New South Wales 2139, Australia., Blair IP; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales 2139, Australia.

Publikováno v: Nature communications [Nat Commun] 2016 Apr 15; Vol. 7, pp. 11253. Date of Electronic Publication: 2016 Apr 15.

Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions.

Autor: Farrawell NE; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522 Australia.; Faculty of Science, Medicine and Health, University of Wollongong, Wollongong, NSW 2522 Australia., Lambert-Smith IA; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522 Australia.; Faculty of Science, Medicine and Health, University of Wollongong, Wollongong, NSW 2522 Australia., Warraich ST; Australian School of Advanced Medicine, Macquarie University, Sydney, NSW 2109, Australia., Blair IP; Australian School of Advanced Medicine, Macquarie University, Sydney, NSW 2109, Australia., Saunders DN; Cancer Division, Garvan Institute of Medical Research, The Kinghorn Cancer Centre, Darlinghurst NSW 2010, Australia.; St Vincent's Clinical School, UNSW Medicine., Hatters DM; The University of Melbourne, Melbourne, VIC 3010, Australia., Yerbury JJ; Illawarra Health and Medical Research Institute, Wollongong, NSW 2522 Australia.; Faculty of Science, Medicine and Health, University of Wollongong, Wollongong, NSW 2522 Australia.

Publikováno v: Scientific reports [Sci Rep] 2015 Aug 21; Vol. 5, pp. 13416. Date of Electronic Publication: 2015 Aug 21.

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

Autor: Yang S; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia., Fifita JA, Williams KL, Warraich ST, Pamphlett R, Nicholson GA, Blair IP

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2013 Sep; Vol. 34 (9), pp. 2235.e7-10. Date of Electronic Publication: 2013 Apr 28.

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase.

Autor: Farg MA; Department of Biochemistry, La Trobe University, Bundoora, Victoria, Australia., Soo KY, Walker AK, Pham H, Orian J, Horne MK, Warraich ST, Williams KL, Blair IP, Atkin JD

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2012 Dec; Vol. 33 (12), pp. 2855-68. Date of Electronic Publication: 2012 Mar 28.