Reconsidering the causality of TIA1 mutations in ALS

Rick A van der Spek¹, Wouter van Rheenen¹, Sara L Pulit¹, Kevin P Kenna², Nicola Ticozzi^{3

4}, Maarten Kooyman⁵, Russell L Mclaughlin⁶, Matthieu Moisse^{7

8

9}, Kristel R van Eijk¹, Joke J F A van Vugt¹, Alfredo Iacoangeli¹⁰, Peter Andersen¹¹, A Nazli Basak¹², Ian Blair¹³, Mamede de Carvalho^{14

15}, Adriano Chio^{16

17}, Philippe Corcia^{18

19}, Phillipe Couratier^{18

19}, Vivian E Drory²⁰, Jonathan D Glass^{21

22}, Orla Hardiman^{6

23}, Jesús S Mora²⁴, Karen E Morrison²⁵, Miguel Mitne-Neto²⁶, Wim Robberecht^{7

8

9}, Pamela J Shaw²⁷, Monica P Panadés²⁸, Philip van Damme^{7

8

9}, Vincenzo Silani^{3

4}, Marc Gotkine²⁹, Markus Weber³⁰, Michael A van Es¹, John E Landers², Ammar Al-Chalabi³¹, Leonard H van den Berg¹, Jan H Veldink¹; PROJECT MINE ALS SEQUENCING CONSORTIUM

Affiliations

¹ a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
² b Department of Neurology , University of Massachusetts Medical School , Worcester , MA , USA.
³ c Department of Neurology and Laboratory of Neuroscience , IRCCS Istituto Auxologico Italiano , Milan , Italy.
⁴ d Department of Pathophysiology and Transplantation , 'Dino Ferrari' Center-Università degli Studi di Milano , Milan , Italy.
⁵ e SURFsara , Amsterdam , The Netherlands.
⁶ f Population Genetics Laboratory , Smurfit Institute of Genetics, Trinity College Dublin , Dublin , Republic of Ireland.
⁷ g Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND) , KU Leuven - University of Leuven , Leuven , Belgium.
⁸ h Laboratory of Neurobiology , VIB, Center for Brain & Disease Research , Leuven , Belgium.
⁹ i Department of Neurology , University Hospitals Leuven , Leuven , Belgium.
¹⁰ j Department of Biostatistics and Health Informatics , Institute of Psychiatry, Psychology and Neuroscience, King's College London , London , UK.
¹¹ k Department of Pharmacology and Clinical Neuroscience , Umeå University , Umeå , Sweden.
¹² l Suna and Inan Kırac Foundatıon Neurodegeneration Research Laboratory , Bogazici University , Istanbul , Turkey.
¹³ m Department of Biomedical Sciences, Faculty of Medicine and Health Sciences , Macquarie University , Sydney , New South Wales , Australia.
¹⁴ n Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine , University of Lisbon , Lisbon , Portugal.
¹⁵ o Department of Neurosciences , Hospital de Santa Maria-CHLN , Lisbon , Portugal.
¹⁶ p 'Rita Levi Montalcini' Department of Neuroscience , ALS Centre, University of Torino , Turin , Italy.
¹⁷ q Department of Neuroscience , Azienda Ospedaliera Città della Salute e della Scienza , Turin , Italy.
¹⁸ r Centre SLA , CHRU de Tours , Tours , France.
¹⁹ s Federation des Centres SLA Tours and Limoges , LITORALS , Tours , France.
²⁰ t Department of Neurology Tel-Aviv Sourasky Medical Centre , Israel.
²¹ u Department Neurology , Emory University School of Medicine , Atlanta , GA , USA.
²² v Emory ALS Center , Emory University School of Medicine , Atlanta , GA , USA.
²³ w Department of Neurology , Beaumont Hospital , Dublin , Republic of Ireland.
²⁴ x ALS Unit , Hospital San Rafael , Madrid , Spain.
²⁵ y Faculty of Medicine , University of Southampton , Southampton , UK.
²⁶ z Human Genome Research Center , Bioscience Institute, University of São Paulo , SP , Brazil.
²⁷ aa Sheffield Institute for Translational Neuroscience (SITraN) , University of Sheffield , Sheffield , UK.
²⁸ ab Neurology Department , Hospital Universitari de Bellvitge , Barcelona , Spain.
²⁹ ac Department of Neurology , The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center , Israel.
³⁰ ad Neuromuscular Diseases Unit/ALS Clinic , Kantonsspital St. Gallen , St. Gallen , Switzerland.
³¹ ae Department of Basic and Clinical Neuroscience , Maurice Wohl Clinical Neuroscience Institute, King's College London , London , UK.

PMID: 29235362
PMCID: PMC6516059
DOI: 10.1080/21678421.2017.1413118

Editorial

Reconsidering the causality of TIA1 mutations in ALS

Rick A van der Spek et al. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb.

. 2018 Feb;19(1-2):1-3.

doi: 10.1080/21678421.2017.1413118. Epub 2017 Dec 13.

Authors

Affiliations

¹ a Department of Neurology , Brain Center Rudolf Magnus University Medical Center Utrecht , Utrecht , The Netherlands.
² b Department of Neurology , University of Massachusetts Medical School , Worcester , MA , USA.
³ c Department of Neurology and Laboratory of Neuroscience , IRCCS Istituto Auxologico Italiano , Milan , Italy.
⁴ d Department of Pathophysiology and Transplantation , 'Dino Ferrari' Center-Università degli Studi di Milano , Milan , Italy.
⁵ e SURFsara , Amsterdam , The Netherlands.
⁶ f Population Genetics Laboratory , Smurfit Institute of Genetics, Trinity College Dublin , Dublin , Republic of Ireland.
⁷ g Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND) , KU Leuven - University of Leuven , Leuven , Belgium.
⁸ h Laboratory of Neurobiology , VIB, Center for Brain & Disease Research , Leuven , Belgium.
⁹ i Department of Neurology , University Hospitals Leuven , Leuven , Belgium.
¹⁰ j Department of Biostatistics and Health Informatics , Institute of Psychiatry, Psychology and Neuroscience, King's College London , London , UK.
¹¹ k Department of Pharmacology and Clinical Neuroscience , Umeå University , Umeå , Sweden.
¹² l Suna and Inan Kırac Foundatıon Neurodegeneration Research Laboratory , Bogazici University , Istanbul , Turkey.
¹³ m Department of Biomedical Sciences, Faculty of Medicine and Health Sciences , Macquarie University , Sydney , New South Wales , Australia.
¹⁴ n Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine , University of Lisbon , Lisbon , Portugal.
¹⁵ o Department of Neurosciences , Hospital de Santa Maria-CHLN , Lisbon , Portugal.
¹⁶ p 'Rita Levi Montalcini' Department of Neuroscience , ALS Centre, University of Torino , Turin , Italy.
¹⁷ q Department of Neuroscience , Azienda Ospedaliera Città della Salute e della Scienza , Turin , Italy.
¹⁸ r Centre SLA , CHRU de Tours , Tours , France.
¹⁹ s Federation des Centres SLA Tours and Limoges , LITORALS , Tours , France.
²⁰ t Department of Neurology Tel-Aviv Sourasky Medical Centre , Israel.
²¹ u Department Neurology , Emory University School of Medicine , Atlanta , GA , USA.
²² v Emory ALS Center , Emory University School of Medicine , Atlanta , GA , USA.
²³ w Department of Neurology , Beaumont Hospital , Dublin , Republic of Ireland.
²⁴ x ALS Unit , Hospital San Rafael , Madrid , Spain.
²⁵ y Faculty of Medicine , University of Southampton , Southampton , UK.
²⁶ z Human Genome Research Center , Bioscience Institute, University of São Paulo , SP , Brazil.
²⁷ aa Sheffield Institute for Translational Neuroscience (SITraN) , University of Sheffield , Sheffield , UK.
²⁸ ab Neurology Department , Hospital Universitari de Bellvitge , Barcelona , Spain.
²⁹ ac Department of Neurology , The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center , Israel.
³⁰ ad Neuromuscular Diseases Unit/ALS Clinic , Kantonsspital St. Gallen , St. Gallen , Switzerland.
³¹ ae Department of Basic and Clinical Neuroscience , Maurice Wohl Clinical Neuroscience Institute, King's College London , London , UK.

PMID: 29235362
PMCID: PMC6516059
DOI: 10.1080/21678421.2017.1413118

Erratum in

Corrigendum.
[No authors listed] [No authors listed] Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):161. doi: 10.1080/21678421.2018.1436684. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29451032 No abstract available.

No abstract available

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References

1. 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. - PMC - PubMed
1. Neuromuscular Disease Center. Available September 19, 2017. at: http://neuromuscular.wustl.edu/musdist/distal.html#welander
1. 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. - PMC - PubMed
1. Leek JT, Peng RD. Statistics: P values are just the tip of the iceberg. Nature 2015;520:612. - PubMed
1. 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. - PMC - PubMed

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Reconsidering the causality of TIA1 mutations in ALS

Affiliations

Reconsidering the causality of TIA1 mutations in ALS

Authors

Affiliations

Erratum in

References

Publication types

MeSH terms

Substances

Grants and funding

LinkOut - more resources

Full Text Sources

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