NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missen...

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Main Authors: Kenna, Kevin P. (Author) , Weishaupt, Jochen H. (Author) , Brown, Robert H. (Author) , Al-Chalabi, Ammar (Author) , Silani, Vincenzo (Author) , Shaw, Christopher E. (Author) , Berg, Leonard H. van den (Author) , Veldink, Jan H. (Author) , Landers, John E. (Author)
Format: Article (Journal)
Language:English
Published: 25 July 2016
In: Nature genetics
Year: 2016, Volume: 48, Issue: 9, Pages: 1037-1042
ISSN:1546-1718
DOI:10.1038/ng.3626
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.3626
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng.3626
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Author Notes:Kevin P Kenna, Perry TC van Doormaal, Annelot M Dekker, Nicola Ticozzi, Brendan J Kenna, Frank P Diekstra, Wouter van Rheenen, Kristel R van Eijk, Ashley R Jones, Pamela Keagle, Aleksey Shatunov, William Sproviero, Bradley N Smith, Michael A van Es, Simon D Topp, Aoife Kenna, Jack W Miller, Claudia Fallini, Cinzia Tiloca, Russell L McLaughlin, Caroline Vance, Claire Troakes, Claudia Colombrita, Gabriele Mora, Andrea Calvo, Federico Verde, Safa Al-Sarraj, Andrew King, Daniela Calini, Jacqueline de Belleroche, Frank Baas, Anneke J van der Kooi, Marianne de Visser, Anneloor LMA ten Asbroek, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, José Luis Muñoz-Blanco, Tim M Strom, Thomas Meitinger, Karen E Morrison, Giuseppe Lauria, Kelly L Williams, P Nigel Leigh, Garth A Nicholson, Ian P Blair, Claire S Leblond, Patrick A Dion, Guy A Rouleau, Hardev Pall, Pamela J Shaw, Martin R Turner, Kevin Talbot, Franco Taroni, Kevin . Boylan, Marka Van Blitterswijk, Rosa Rademakers, Jesús Esteban-Pérez, Alberto García-Redondo, Phillip Van Damme, Wim Robberecht, Adriano Chio, Cinzia Gellera, Carsten Drepper, Michael Sendtner, Antonia Ratti, Jonathan D Glass, Jesús S Mora, Nazli A Basak, Orla Hardiman, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, Robert H Brown, Ammar Al-Chalabi, Vincenzo Silani, Christopher E Shaw, Leonard H van den Berg, Jan H Veldink & John E Landers
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Summary:Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missense variant (p.Arg261His) and disease risk.
Item Description:Gesehen am 16.06.2021
Physical Description:Online Resource
ISSN:1546-1718
DOI:10.1038/ng.3626