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

Autor: Hogan AL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Grima N; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Fifita JA; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., McCann EP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Heng B; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Fat SCM; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Wu S; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Maharjan R; ARC Centre of Excellence in Synthetic Biology, Department of Molecular Sciences, Faculty of Science and Engineering, Macquarie University, Sydney, New South Wales, Australia., Cain AK; ARC Centre of Excellence in Synthetic Biology, Department of Molecular Sciences, Faculty of Science and Engineering, Macquarie University, Sydney, New South Wales, Australia., Henden L; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Rayner S; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Tarr I; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Zhang KY; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Zhao Q; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia., Zhang ZH; School of Medicine, IMPACT, Bioinformatics Core Research Facility, Deakin University, Geelong, Victoria, Australia., Wright A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Lee A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Morsch M; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Yang S; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Williams KL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.

Publikováno v: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2021 Dec; Vol. 47 (7), pp. 990-1003. Date of Electronic Publication: 2021 Aug 02.

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord.

Autor: Trist BG; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney 2006, Australia., Genoud S; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney 2006, Australia., Roudeau S; University Bordeaux, CNRS, CENBG, UMR 5797, F-33170 Gradignan, France., Rookyard A; School of Life and Environmental Sciences, Faculty of Science, The University of Sydney, Sydney 2006, Australia., Abdeen A; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney 2006, Australia., Cottam V; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney 2006, Australia., Hare DJ; School of Biosciences, The University of Melbourne, Parkville 3010, Australia.; Atomic Medicine Initiative, University of Technology Sydney, Broadway 2007, Australia., White M; School of Life and Environmental Sciences, Faculty of Science, The University of Sydney, Sydney 2006, Australia., Altvater J; Sydney Mass Spectrometry, The University of Sydney, Sydney 2006, Australia., Fifita JA; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia., Hogan A; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia., Grima N; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia., Blair IP; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia., Kysenius K; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville 3010, Australia., Crouch PJ; Department of Biochemistry and Pharmacology, The University of Melbourne, Parkville 3010, Australia., Carmona A; University Bordeaux, CNRS, CENBG, UMR 5797, F-33170 Gradignan, France., Rufin Y; Plateforme Biochimie, University of Bordeaux, Bordeaux, France., Claverol S; Plateforme Protéome, University of Bordeaux, Bordeaux, France., Van Malderen S; Deutsches Elektronen-Synchrotron DESY, Notkestr. 85, 22607 Hamburg, Germany., Falkenberg G; Deutsches Elektronen-Synchrotron DESY, Notkestr. 85, 22607 Hamburg, Germany., Paterson DJ; Australian Synchrotron, ANSTO, Clayton 3168, Australia., Smith B; Maurice Wohl Clinical Neuroscience Institute and the Institute of Psychiatry, Psychology and Neuroscience, King's College London, SE5 9RT London, UK., Troakes C; UK Dementia Research Institute at King's College London, London SE5 9RT, UK., Vance C; Maurice Wohl Clinical Neuroscience Institute and the Institute of Psychiatry, Psychology and Neuroscience, King's College London, SE5 9RT London, UK., Shaw CE; UK Dementia Research Institute at King's College London, London SE5 9RT, UK., Al-Sarraj S; London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, SE5 8AF London, UK., Cordwell S; School of Life and Environmental Sciences, Faculty of Science, The University of Sydney, Sydney 2006, Australia., Halliday G; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney 2006, Australia., Ortega R; University Bordeaux, CNRS, CENBG, UMR 5797, F-33170 Gradignan, France., Double KL; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney 2006, Australia.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3108-3130.

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration.

Autor: Trist BG; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2006, Australia. benjamin.trist@sydney.edu.au., Fifita JA; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Hogan A; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Grima N; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Smith B; Maurice Wohl Clinical Neuroscience Institute and the Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, SE5 9RT, UK., Troakes C; London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK., Vance C; Maurice Wohl Clinical Neuroscience Institute and the Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, SE5 9RT, UK., Shaw C; Maurice Wohl Clinical Neuroscience Institute and the Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, SE5 9RT, UK., Al-Sarraj S; London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK., Blair IP; Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Double KL; Brain and Mind Centre and School of Medical Sciences (Neuroscience), Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, 2006, Australia. kay.double@sydney.edu.au.

Publikováno v: Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Aug 25; Vol. 10 (1), pp. 122. Date of Electronic Publication: 2022 Aug 25.

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis.

Autor: Fifita JA; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Chan Moi Fat S; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., McCann EP; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Williams KL; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Twine NA; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organization, Health & Biosecurity Flagship, Sydney, NSW, Australia., Bauer DC; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organization, Health & Biosecurity Flagship, Sydney, NSW, Australia.; Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.; Applied BioSciences, Faculty of Science and Engineering, Macquarie University, Sydney, NSW, Australia., Rowe DB; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.; Department of Clinical Medicine, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Pamphlett R; Discipline of Pathology, School of Medical Sciences, University of Sydney, Sydney, NSW, Australia.; Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia., Kiernan MC; Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia.; Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Tan VX; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Blair IP; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Guillemin GJ; Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.

Publikováno v: Frontiers in immunology [Front Immunol] 2021 Jun 14; Vol. 12, pp. 701550. Date of Electronic Publication: 2021 Jun 14 (Print Publication: 2021).

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.

Autor: Cheng F; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., De Luca A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Hogan AL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Rayner SL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Davidson JM; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Watchon M; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Stevens CH; Illawarra Health and Medical Research Institute (IHMRI), University of Wollongong, Wollongong, NSW, Australia.; School of Chemistry and Molecular Bioscience and Molecular Horizons, University of Wollongong, Wollongong, NSW, Australia., Muñoz SS; Illawarra Health and Medical Research Institute (IHMRI), University of Wollongong, Wollongong, NSW, Australia.; School of Chemistry and Molecular Bioscience and Molecular Horizons, University of Wollongong, Wollongong, NSW, Australia., Ooi L; Illawarra Health and Medical Research Institute (IHMRI), University of Wollongong, Wollongong, NSW, Australia.; School of Chemistry and Molecular Bioscience and Molecular Horizons, University of Wollongong, Wollongong, NSW, Australia., Yerbury JJ; Illawarra Health and Medical Research Institute (IHMRI), University of Wollongong, Wollongong, NSW, Australia.; School of Chemistry and Molecular Bioscience and Molecular Horizons, University of Wollongong, Wollongong, NSW, Australia., Don EK; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Fifita JA; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Villalva MD; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Suddull H; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Chapman TR; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Hedl TJ; Neurodegeneration Pathobiology Laboratory, Queensland Brain Institute, The University of Queensland, St Lucia, QLD, Australia., Walker AK; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia.; Neurodegeneration Pathobiology Laboratory, Queensland Brain Institute, The University of Queensland, St Lucia, QLD, Australia., Yang S; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Morsch M; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Shi B; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Laird AS; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Chung RS; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia., Lee A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine, Health, and Human Sciences, Macquarie University, North Ryde, NSW, Australia.

Publikováno v: Frontiers in molecular neuroscience [Front Mol Neurosci] 2021 Apr 27; Vol. 14, pp. 627740. Date of Electronic Publication: 2021 Apr 27 (Print Publication: 2021).