Nature Communications (Apr 2016)
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
- 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
Affiliations
- Kelly L. Williams
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Simon Topp
- Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London
- Shu Yang
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Bradley Smith
- Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London
- Jennifer A. Fifita
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Sadaf T. Warraich
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Katharine Y. Zhang
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Natalie Farrawell
- Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong
- Caroline Vance
- Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London
- Xun Hu
- Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London
- Alessandra Chesi
- Department of Genetics, Stanford University School of Medicine
- Claire S. Leblond
- Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University
- Albert Lee
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Stephanie L. Rayner
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Vinod Sundaramoorthy
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Carol Dobson-Stone
- Neuroscience Research Australia, Randwick
- Mark P. Molloy
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Marka van Blitterswijk
- Department of Neuroscience, Mayo Clinic Florida
- Dennis W. Dickson
- Department of Neuroscience, Mayo Clinic Florida
- Ronald C. Petersen
- Department of Neurology, Mayo Clinic Rochester
- Neill R. Graff-Radford
- Department of Neurology, Mayo Clinic Florida
- Bradley F. Boeve
- Department of Neurology, Mayo Clinic Rochester
- Melissa E. Murray
- Department of Neuroscience, Mayo Clinic Florida
- Cyril Pottier
- Department of Neuroscience, Mayo Clinic Florida
- Emily Don
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Claire Winnick
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Emily P. McCann
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Alison Hogan
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Hussein Daoud
- Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University
- Annie Levert
- Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University
- Patrick A. Dion
- Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University
- Jun Mitsui
- Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo
- Hiroyuki Ishiura
- Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo
- Yuji Takahashi
- Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo
- Jun Goto
- Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo
- Jason Kost
- Worcester Polytechnic Institute
- Cinzia Gellera
- Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’
- Athina Soragia Gkazi
- Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London
- Jack Miller
- Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London
- Joanne Stockton
- School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham
- William S. Brooks
- Neuroscience Research Australia, Randwick
- Karyn Boundy
- The Queen Elizabeth Hospital
- Meraida Polak
- Department of Neurology, Emory University
- José Luis Muñoz-Blanco
- Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid
- Jesús Esteban-Pérez
- Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid
- Alberto Rábano
- Banco de Tejidos, Centro Alzheimer—Fundación Reina Sofia, Fundación CIEN
- Orla Hardiman
- Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin
- Karen E. Morrison
- School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham
- Nicola Ticozzi
- Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano
- Vincenzo Silani
- Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano
- Jacqueline de Belleroche
- Division of Brain Sciences, Neurogenetics Group, Imperial College London, Hammersmith Hospital Campus
- Jonathan D. Glass
- Department of Neurology, Emory University
- John B. J. Kwok
- Neuroscience Research Australia, Randwick
- Gilles J. Guillemin
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Roger S. Chung
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Shoji Tsuji
- Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo
- Robert H. Brown
- Department of Neurology, University of Massachusetts Medical School
- Alberto García-Redondo
- Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid
- Rosa Rademakers
- Department of Neuroscience, Mayo Clinic Florida
- John E. Landers
- Department of Neurology, University of Massachusetts Medical School
- Aaron D. Gitler
- Department of Genetics, Stanford University School of Medicine
- Guy A. Rouleau
- Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University
- Nicholas J. Cole
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Justin J. Yerbury
- Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong
- Julie D. Atkin
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Christopher E. Shaw
- Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London
- Garth A. Nicholson
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- Ian P. Blair
- Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University
- DOI
- https://doi.org/10.1038/ncomms11253
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 8
Abstract
Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutations in international cohorts, the authors also show that mutant CCNFgene product affects ubiquitination and protein degradation in cultured cells.
