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Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.

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Title: Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
Authors: Lee A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia. albert.lee@mq.edu.au.; Australian Proteome Analysis Facility, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia. albert.lee@mq.edu.au., Rayner SL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.; Department of Chemistry and Biomolecular Sciences, Faculty of Science and Engineering, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia., Gwee SSL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., De Luca A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Shahheydari H; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Sundaramoorthy V; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Ragagnin A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Morsch M; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Radford R; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Galper J; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Freckleton S; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Shi B; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Walker AK; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Don EK; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Cole NJ; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Yang S; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Williams KL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Yerbury JJ; Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong, Northfields Avenue, Wollongong, NSW, 2522, Australia., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia., Atkin JD; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.; Department of Biochemistry and Genetics, La Trobe Institute for Molecular Science, Melbourne, VIC, 3086, Australia., Molloy MP; Australian Proteome Analysis Facility, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia.; Department of Chemistry and Biomolecular Sciences, Faculty of Science and Engineering, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia., Chung RS; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.
Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2018 Jan; Vol. 75 (2), pp. 335-354. Date of Electronic Publication: 2017 Aug 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
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  Data: <searchLink fieldCode="AU" term="%22Lee+A%22">Lee A</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia. albert.lee@mq.edu.au.; Australian Proteome Analysis Facility, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia. albert.lee@mq.edu.au.<br /><searchLink fieldCode="AU" term="%22Rayner+SL%22">Rayner SL</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.; Department of Chemistry and Biomolecular Sciences, Faculty of Science and Engineering, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Gwee+SSL%22">Gwee SSL</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22De+Luca+A%22">De Luca A</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Shahheydari+H%22">Shahheydari H</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Sundaramoorthy+V%22">Sundaramoorthy V</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Ragagnin+A%22">Ragagnin A</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Morsch+M%22">Morsch M</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Radford+R%22">Radford R</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Galper+J%22">Galper J</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Freckleton+S%22">Freckleton S</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Shi+B%22">Shi B</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Walker+AK%22">Walker AK</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Don+EK%22">Don EK</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Cole+NJ%22">Cole NJ</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Yang+S%22">Yang S</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Williams+KL%22">Williams KL</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Yerbury+JJ%22">Yerbury JJ</searchLink>; Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong, Northfields Avenue, Wollongong, NSW, 2522, Australia.<br /><searchLink fieldCode="AU" term="%22Blair+IP%22">Blair IP</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Atkin+JD%22">Atkin JD</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.; Department of Biochemistry and Genetics, La Trobe Institute for Molecular Science, Melbourne, VIC, 3086, Australia.<br /><searchLink fieldCode="AU" term="%22Molloy+MP%22">Molloy MP</searchLink>; Australian Proteome Analysis Facility, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia.; Department of Chemistry and Biomolecular Sciences, Faculty of Science and Engineering, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia.<br /><searchLink fieldCode="AU" term="%22Chung+RS%22">Chung RS</searchLink>; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.
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  Data: <searchLink fieldCode="JN" term="%229705402%22">Cellular and molecular life sciences : CMLS</searchLink> [Cell Mol Life Sci] 2018 Jan; Vol. 75 (2), pp. 335-354. <i>Date of Electronic Publication: </i>2017 Aug 29.
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