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Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
Lee, Albert; Rayner, Stephanie L; Gwee, Serene S L; De Luca, Alana; Shahheydari, Hamideh; Sundaramoorthy, Vinod; Ragagnin, Audrey; Morsch, Marco; Radford, Rowan; Galper, Jasmin; Freckleton, Sarah; Shi, Bingyang; Walker, Adam K; Don, Emily K; Cole, Nicholas J; Yang, Shu; Williams, Kelly L; Yerbury, Justin J; Blair, Ian P; Atkin, Julie D; Molloy, Mark P; Chung, Roger S.
Afiliação
  • 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.
  • Rayner SL; Australian Proteome Analysis Facility, Macquarie University, Research Park Drive, North Ryde, NSW, 2109, Australia. albert.lee@mq.edu.au.
  • 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; Department of Chemistry and Biomolecular Sciences, Faculty of Science and Engineering, Macquarie University, Research Park Drive, 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; 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.
  • 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; Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong, Northfields Avenue, Wollongong, NSW, 2522, Australia.
  • Molloy MP; 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.
  • 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.
Cell Mol Life Sci ; 75(2): 335-354, 2018 01.
Article em En | MEDLINE | ID: mdl-28852778

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autofagia / Ciclinas / Ubiquitinação / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Cell Mol Life Sci Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autofagia / Ciclinas / Ubiquitinação / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Cell Mol Life Sci Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Austrália País de publicação: Suíça