NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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Fältnamn	Indikatorer	Metadata
000		06148naa a2201429 4500
001		oai:DiVA.org:umu-126319
003		SwePub
008		161003s2016 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1263192 URI
024	7	a https://doi.org/10.1038/ng.36262 DOI
040		a (SwePub)umu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Kenna, Kevin P.4 aut
245	1 0	a NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
264		c 2016-07-25
264	1	b Springer Science and Business Media LLC,c 2016
338		a print2 rdacarrier
520		a To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a van Doormaal, Perry T. C.4 aut
700	1	a Dekker, Annelot M.4 aut
700	1	a Ticozzi, Nicola4 aut
700	1	a Kenna, Brendan J.4 aut
700	1	a Diekstra, Frank P.4 aut
700	1	a van Rheenen, Wouter4 aut
700	1	a van Eijk, Kristel R.4 aut
700	1	a Jones, Ashley R.4 aut
700	1	a Keaglel, Pamela4 aut
700	1	a Shatunov, Aleksey4 aut
700	1	a Sproviero, William4 aut
700	1	a Smiths, Bradley N.4 aut
700	1	a van Es, Michael A.4 aut
700	1	a Topps, Simon D.4 aut
700	1	a Kenna, Aoife4 aut
700	1	a Miller, Jack W.4 aut
700	1	a Fallini, Claudia4 aut
700	1	a Tiloca, Cinzia4 aut
700	1	a McLaughlin, Russell L.4 aut
700	1	a Vance, Caroline4 aut
700	1	a Troakes, Claire4 aut
700	1	a Colombrita, Claudia4 aut
700	1	a Mora, Gabriele4 aut
700	1	a Calvo, Andrea4 aut
700	1	a Verde, Federico4 aut
700	1	a Al-Sarraj, Safa4 aut
700	1	a King, Andrew4 aut
700	1	a Calini, Daniela4 aut
700	1	a de Belleroche, Jacqueline4 aut
700	1	a Baas, Frank4 aut
700	1	a van der Kooi, Anneke J.4 aut
700	1	a de Visser, Marianne4 aut
700	1	a ten Asbroek, Anneloor L. M. A.4 aut
700	1	a Sapp, Peter C.4 aut
700	1	a McKenna-Yasek, Diane4 aut
700	1	a Polak, Meraida4 aut
700	1	a Asress, Seneshaw4 aut
700	1	a Luis Munoz-Blanco, Jose4 aut
700	1	a Strom, Tim M.4 aut
700	1	a Meitinger, Thomas4 aut
700	1	a Morrison, Karen E.4 aut
700	1	a Lauria, Giuseppe4 aut
700	1	a Williams, Kelly L.4 aut
700	1	a Leigh, P. Nigel4 aut
700	1	a Nicholson, Garth A.4 aut
700	1	a Blair, Ian P.4 aut
700	1	a Leblond, Claire S.4 aut
700	1	a Dion, Patrick A.4 aut
700	1	a Rouleau, Guy A.4 aut
700	1	a Pall, Hardev4 aut
700	1	a Shaw, Pamela J.4 aut
700	1	a Turner, Martin R.4 aut
700	1	a Talbot, Kevin4 aut
700	1	a Taroni, Franco4 aut
700	1	a Boylan, Kevin B.4 aut
700	1	a Van Blitterswijk, Marka4 aut
700	1	a Rademakers, Rosa4 aut
700	1	a Esteban-Perez, Jesus4 aut
700	1	a Garcia-Redondo, Alberto4 aut
700	1	a Van Damme, Phillip4 aut
700	1	a Robberecht, Wim4 aut
700	1	a Chio, Adrian4 aut
700	1	a Gellera, Cinzia4 aut
700	1	a Drepper, Carsten4 aut
700	1	a Sendtner, Michael4 aut
700	1	a Ratti, Antonia4 aut
700	1	a Glass, Jonathan D.4 aut
700	1	a Mora, Jesus S.4 aut
700	1	a Basak, Nazli A.4 aut
700	1	a Hardiman, Orla4 aut
700	1	a Ludolph, Albert C.4 aut
700	1	a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001
700	1	a Weishaupt, Jochen H.4 aut
700	1	a Brown, Robert H., Jr.4 aut
700	1	a Al-Chalabi, Ammar4 aut
700	1	a Silani, Vincenzo4 aut
700	1	a Shaw, Christopher E.4 aut
700	1	a van den Berg, Leonard H.4 aut
700	1	a Veldink, Jan H.4 aut
700	1	a Landers, John E.4 aut
700	1	a D'Alfonso, Sandra4 aut
700	1	a Mazzini, Letizia4 aut
700	1	a Comi, Giacomo P.4 aut
700	1	a Del Bo, Roberto4 aut
700	1	a Ceroni, Mauro4 aut
700	1	a Gagliardi, Stella4 aut
700	1	a Querin, Giorgia4 aut
700	1	a Bertolin, Cinzia4 aut
700	1	a Pensato, Viviana4 aut
700	1	a Castellotti, Barbara4 aut
700	1	a Corti, Stefania4 aut
700	1	a Cereda, Cristina4 aut
700	1	a Corrado, Lucia4 aut
700	1	a Soraru, Gianni4 aut
710	2	a Umeå universitetb Klinisk neurovetenskap4 org
773	0	t Nature Geneticsd : Springer Science and Business Media LLCg 48:9, s. 1037-1042q 48:9<1037-1042x 1061-4036x 1546-1718
856	4	u https://air.unimi.it/bitstream/2434/425939/2/Kenna%20KP%20et%20al.%20%20%28NEK1%29%20Nat%20Genetics%202016.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-126319
856	4 8	u https://doi.org/10.1038/ng.3626

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Av författaren/redakt...: Kenna, Kevin P.; van Doormaal, Pe ...; Dekker, Annelot ...; Ticozzi, Nicola; Kenna, Brendan J ...; Diekstra, Frank ...; visa fler...; van Rheenen, Wou ...; van Eijk, Kriste ...; Jones, Ashley R.; Keaglel, Pamela; Shatunov, Alekse ...; Sproviero, Willi ...; Smiths, Bradley ...; van Es, Michael ...; Topps, Simon D.; Kenna, Aoife; Miller, Jack W.; Fallini, Claudia; Tiloca, Cinzia; McLaughlin, Russ ...; Vance, Caroline; Troakes, Claire; Colombrita, Clau ...; Mora, Gabriele; Calvo, Andrea; Verde, Federico; Al-Sarraj, Safa; King, Andrew; Calini, Daniela; de Belleroche, J ...; Baas, Frank; van der Kooi, An ...; de Visser, Maria ...; ten Asbroek, Ann ...; Sapp, Peter C.; McKenna-Yasek, D ...; Polak, Meraida; Asress, Seneshaw; Luis Munoz-Blanc ...; Strom, Tim M.; Meitinger, Thoma ...; Morrison, Karen ...; Lauria, Giuseppe; Williams, Kelly ...; Leigh, P. Nigel; Nicholson, Garth ...; Blair, Ian P.; Leblond, Claire ...; Dion, Patrick A.; Rouleau, Guy A.; Pall, Hardev; Shaw, Pamela J.; Turner, Martin R ...; Talbot, Kevin; Taroni, Franco; Boylan, Kevin B.; Van Blitterswijk ...; Rademakers, Rosa; Esteban-Perez, J ...; Garcia-Redondo, ...; Van Damme, Phill ...; Robberecht, Wim; Chio, Adrian; Gellera, Cinzia; Drepper, Carsten; Sendtner, Michae ...; Ratti, Antonia; Glass, Jonathan ...; Mora, Jesus S.; Basak, Nazli A.; Hardiman, Orla; Ludolph, Albert ...; Andersen, Peter ...; Weishaupt, Joche ...; Brown, Robert H. ...; Al-Chalabi, Amma ...; Silani, Vincenzo; Shaw, Christophe ...; van den Berg, Le ...; Veldink, Jan H.; Landers, John E.; D'Alfonso, Sandr ...; Mazzini, Letizia; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stell ...; Querin, Giorgia; Bertolin, Cinzia; Pensato, Viviana; Castellotti, Bar ...; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Soraru, Gianni; visa färre...

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