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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 19, 2018 - Issue 1-2
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Editorial

Reconsidering the causality of TIA1 mutations in ALS

Rick A. van der SpekDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands; ORCID Iconhttp://orcid.org/0000-0001-9983-204X
ORCID Icon,
Wouter van RheenenDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands;
,
Sara L. PulitDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands; ORCID Iconhttp://orcid.org/0000-0002-2502-3669
ORCID Icon,
Kevin P. KennaDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA;
,
Nicola TicozziDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; ;Department of Pathophysiology and Transplantation, ‘Dino Ferrari' Center-Università degli Studi di Milano, Milan, Italy;
,
Maarten KooymanSURFsara, Amsterdam, The Netherlands;
,
Russell L. MclaughlinPopulation Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland;
,
Matthieu MoisseDepartment of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium; ;Laboratory of Neurobiology, VIB, Center for Brain & Disease Research, Leuven, Belgium; ;Department of Neurology, University Hospitals Leuven, Leuven, Belgium; ORCID Iconhttp://orcid.org/0000-0001-8880-9311
ORCID Icon,
Kristel R. van EijkDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands;
,
Joke J. F. A. van VugtDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands;
,
Alfredo IacoangeliDepartment of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK;
,
Peter AndersenDepartment of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden;
,
A. Nazli BasakSuna and Inan Kırac Foundatıon Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey;
,
Ian BlairDepartment of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia;
,
Mamede de CarvalhoInstitute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; ;Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal;
,
Adriano Chio‘Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy; ;Department of Neuroscience, Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy; ORCID Iconhttp://orcid.org/0000-0001-9579-5341
ORCID Icon,
Philippe CorciaCentre SLA, CHRU de Tours, Tours, France; ;Federation des Centres SLA Tours and Limoges, LITORALS, Tours, France;
,
Phillipe CouratierCentre SLA, CHRU de Tours, Tours, France; ;Federation des Centres SLA Tours and Limoges, LITORALS, Tours, France;
,
Vivian E. DroryDepartment of Neurology Tel-Aviv Sourasky Medical Centre, Israel;
,
Jonathan D. GlassDepartment Neurology, Emory University School of Medicine, Atlanta, GA, USA; ;Emory ALS Center, Emory University School of Medicine, Atlanta, GA, USA;
,
Orla HardimanPopulation Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland; ;Department of Neurology, Beaumont Hospital, Dublin, Republic of Ireland;
,
Jesús S. MoraALS Unit, Hospital San Rafael, Madrid, Spain;
,
Karen E. MorrisonFaculty of Medicine, University of Southampton, Southampton, UK;
,
Miguel Mitne-NetoHuman Genome Research Center, Bioscience Institute, University of São Paulo, SP, Brazil;
,
Wim RobberechtDepartment of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium; ;Laboratory of Neurobiology, VIB, Center for Brain & Disease Research, Leuven, Belgium; ;Department of Neurology, University Hospitals Leuven, Leuven, Belgium;
,
Pamela J. ShawSheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK; ORCID Iconhttp://orcid.org/0000-0002-8925-2567
ORCID Icon,
Monica P. PanadésNeurology Department, Hospital Universitari de Bellvitge, Barcelona, Spain;
,
Philip van DammeDepartment of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium; ;Laboratory of Neurobiology, VIB, Center for Brain & Disease Research, Leuven, Belgium; ;Department of Neurology, University Hospitals Leuven, Leuven, Belgium;
,
Vincenzo SilaniDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; ;Department of Pathophysiology and Transplantation, ‘Dino Ferrari' Center-Università degli Studi di Milano, Milan, Italy;
,
Marc GotkineDepartment of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Israel;
,
Markus WeberNeuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland;
,
Michael A. van EsDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands;
,
John E. LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA;
,
Ammar Al-ChalabiDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UKORCID Iconhttp://orcid.org/0000-0002-4924-7712
ORCID Icon,
Leonard H. van den BergDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands;
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Jan H. VeldinkDepartment of Neurology, Brain Center Rudolf Magnus University Medical Center Utrecht, Utrecht, The Netherlands; Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0001-5572-9657
ORCID Icon & PROJECT MINE ALS SEQUENCING CONSORTIUM show all
Pages 1-3 | Received 02 Nov 2017, Accepted 25 Nov 2017, Published online: 13 Dec 2017

References

  • Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, et al. TIA1 Mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics. Neuron 2017;95:808–16.e9.
  • Neuromuscular Disease Center. Available September 19, 2017 at: http://neuromuscular.wustl.edu/musdist/distal.html#welander
  • MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014;508:469–76.
  • Leek JT, Peng RD. Statistics: P values are just the tip of the iceberg. Nature 2015;520:612.
  • Do R, Kathiresan S, Abecasis GR. Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet. 2012;21:R1–9.
  • Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 2015;347:1436–41.
  • Kenna KP, van Doormaal PTC, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat Genet. 2016;48:1037–42.
  • Project MinE Consortium, Van Rheenen W, Pulit SL, Dekker AM, Al Khleifat A, Brands WJ, et al. Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. bioRxiv [Internet]. 2017;152553. [cited 2017 Jul 13] Available at: http://www.biorxiv.org/content/early/2017/06/20/152553
  • Sillitoe I, Lewis TE, Cuff A, Das S, Ashford P, Dawson NL, et al. CATH: comprehensive structural and functional annotations for genome sequences. Nucleic Acids Res. 2015;43: D376–81. (Database issue).

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