Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Science

Volumn 347, Issue 6229, 2015, Pages 1436-1441

  Cirulli, Elizabeth T ^a   Lasseigne, Brittany N ^b   Petrovski, Slavé ^c   Sapp, P C ^y   Dion, Patrick A ^e   Leblond, C S ^y   Couthouis, Julien ^f   Lu, Yi Fan ^c   Wang, Quanli ^c   Krueger, Brian J ^c   Ren, Zhong ^c   Keebler, Jonathan ^a   Han, Yujun ^a   Levy, Shawn E ^b   Boone, Braden E ^b   Wimbish, Jack R ^b   Waite, Lindsay L ^b   Jones, Angela L ^b   Carulli, John P ^g   Day Williams, Aaron G ^g   Staropoli, John F ^g   Xin, Winnie W ^h   Chesi, Alessandra ^f   Raphael, Alya R ^f   McKenna Yasek, D ^y   Cady, Janet ⁱ   De Jong, J M B Vianney ^j   Kenna, K P ^y   Smith, B N ^y   Topp, S ^y   Miller, J ^y   Gkazi, A ^y   Al Chalabi, A ^y   van den Berg, L H ^y   Veldink, J ^y   Silani, V ^y   Ticozzi, N ^y   Shaw, P J ^y   Baloh, Robert H ^p   Appel, Stanley ^q,r   Simpson, Ericka ^q,r   Lagier Tourenne, Clotilde ^s   Pulst, Stefan M ^t   Gibson, Summer ^t   Trojanowski, John Q ^u   Elman, Lauren ^u   McCluskey, Leo ^u   Grossman, Murray ^u   Shneider, Neil A ^c   Chung, Wendy K ^c   Ravits, John M ^s   Glass, J D ^y   Sims, Katherine B ^h   Van Deerlin, Vivianna M ^u   Maniatis, Tom ^c   Hayes, Sebastian D ^a,g   Ordureau, Alban ^w   Swarup, Sharan ^w   Landers, J ^y   Baas, F ^y   Allen, Andrew S ^a   Bedlack, Richard S ^x   Harper, J Wade ^w   Gitler, Aaron D ^f   Rouleau, G A ^y   Brown, R ^y   Harms, Matthew B ⁱ   Cooper, Gregory M ^b   Harris, Tim ^g   Myers, Richard M ^b   Goldstein, David B ^c   Hardiman, O ^y   McLaughlin, R L ^y   Mazzini, L ^y   Blair, I P ^y   Williams, K L ^y   Nicholson, G A ^y   Al Sarraj, S ^y   King, A ^y   Scotter, E L ^y   Troakes, C ^y   Vance, C ^y   D'Alfonso, S ^y   Duga, S ^y   Corrado, L ^y   ten Asbroek, A L ^y   Calini, D ^y   Colombrita, C ^y   Ratti, A ^y   Tiloca, C ^y   Wu, Z ^y   Asress, S ^y   Polak, M ^y   Diekstra, F ^y   van Rheenen, W ^y   Danielson, E W ^y   Fallini, C ^y   Keagle, P ^y   Lewis, E A ^y   Kost, J ^y   Soraru G ^y   Bertolin, Cinzia ^y   Querin, G ^y   Castellotti, B ^y   Gellera, C ^y   Pensato, V ^y   Taroni, F ^y   Cereda, C ^y   Gagliardi, S ^y   Ceroni, M ^y   Lauria, G ^y   de Belleroche, J ^y   Comi, G P ^y   Corti, S ^y   Del Bo, R ^y   Turner, M R ^y   Talbot, K ^y   Pall, H ^y   Morrison, K E ^y   Esteban Perez J ^y   Garcia Redondo A ^y   Munoz Blanco J L ^y   more..

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^e MCGILL UNIVERSITY   (Canada)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g BIOGEN   (United States)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j ACADEMIC MEDICAL CENTER   (Netherlands)

^k TRINITY COLLEGE DUBLIN   (Ireland)

^l KING'S COLLEGE LONDON   (United Kingdom)

^m UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

ⁿ ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^o UNIVERSITY OF MILAN   (Italy)

^p CEDARS SINAI MEDICAL CENTER   (United States)

^q HOUSTON METHODIST HOSPITAL   (United States)

^r WEILL CORNELL MEDICAL COLLEGE   (United States)

^s UNIVERSITY OF CALIFORNIA   (United States)

^t UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^u UNIVERSITY OF PENNSYLVANIA   (United States)

^v EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^w HARVARD MEDICAL SCHOOL   (United States)

^x DURHAM VA MEDICAL CENTER   (United States)

^y Durham VA Medical Center ^*

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALS2 PROTEIN; NEK1 PROTEIN; OPTINEURIN; PHOSPHOTRANSFERASE; PROTEIN; PROTEIN P62; TANK BINDING KINASE 1; UNCLASSIFIED DRUG; VAPB PROTEIN; OPTN PROTEIN, HUMAN; PROTEIN BINDING; PROTEIN SERINE THREONINE KINASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; SQSTM1 PROTEIN, HUMAN; TBK1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR IIIA;

DISABILITY; GENE EXPRESSION; GENETIC VARIATION; HEALTH RISK; NEUROLOGY; PATHOLOGY; RODENT; SIGNALING;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL CELL; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE PREDISPOSITION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; INNATE IMMUNITY; MAJOR CLINICAL STUDY; MOUSE; NERVE CELL; NERVOUS SYSTEM INFLAMMATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SURVIVAL TIME; WHOLE EXOME SEQUENCING; ADOLESCENT; ADULT; AGED; DNA SEQUENCE; EXOME; FEMALE; GENE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MALE; METABOLISM; MIDDLE AGED; RISK; VERY ELDERLY; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; AUTOPHAGY; EXOME; FEMALE; GENES; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; PROTEIN BINDING; PROTEIN-SERINE-THREONINE KINASES; RISK; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTOR TFIIIA; YOUNG ADULT;

EID: 84945749129     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.aaa3650     Document Type: Article

References (53)

1. L. Poppe, L. Rué, W. Robberecht, L. Van Den Bosch, Exp. Neurol. 262, 138-151 (2014).
2. S. Chen, P. Sayana, X. Zhang, W. Le, Mol. Neurodegener. 8, 28 (2013).
3. A. E. Renton, A. Chiò, B. J. Traynor, Nat. Neurosci. 17, 17-23 (2014).
4. A. Al-Chalabi et al., Acta Neuropathol. 124, 339-352 (2012).
5. M. Neumann, Rev. Neurol. 169, 793-798 (2013).
6. R. A. Smith et al., J. Clin. Invest. 116, 2290-2296 (2006).
7. J. Sasabe et al., EMBO J. 26, 4149-4159 (2007).
8. M. Thompson et al., J. Neurochem. 120, 598-610 (2012).
9. P. Paul, J. de Belleroche, Amino Acids 43, 1823-1831 (2012).
10. J. Cady et al., Ann. Neurol. 77, 100-113 (2015).
11. P. D. Stenson et al., Hum. Mutat. 21, 577-581 (2003).
12. I. A. Adzhubei et al., Nat. Methods 7, 248-249 (2010).
13. A. Iida et al., Neurobiol. Aging 33, 1843.e19-1843.e24 (2012).
14. M. van Blitterswijk et al., Neurobiol. Aging 33, 1016.e1-1016.e7 (2012).
15. H. Daoud et al., Neurobiol. Aging 33, 839.e5-839.e9 (2012).
16. B. N. Smith et al., Neuron 84, 324-331 (2014).
17. J. O. Johnson et al., Nat. Neurosci. 17, 664-666 (2014).
18. H. M. Kaneb et al., Hum. Mol. Genet. 24, 1363-1373 (2015).
19. A. Chaussenot et al., Neurobiol. Aging 35, 2884.e1-2884.e4 (2014).
20. S. Bannwarth et al., Brain 137, 2329-2345 (2014).
21. J. Couthouis, A. R. Raphael, R. Daneshjou, A. D. Gitler, PLOS Genet. 10, e1004704 (2014).
22. H. Maruyama et al., Nature 465, 223-226 (2010).
23. S. L. Rea, V. Majcher, M. S. Searle, R. Layfield, Exp. Cell Res. 325, 27-37 (2014).
24. H. Maruyama, H. Kawakami, Geriatr. Gerontol. Int. 13, 528-532 (2013).
25. M. Thomas, J. Alegre-Abarrategui, R. Wade-Martins, Brain 136, 1345-1360 (2013).
26. D. Kachaner, P. Génin, E. Laplantine, R. Weil, Cell Cycle 11, 2808-2818 (2012).
27. B. A. Keller et al., Acta Neuropathol. 124, 733-747 (2012).
28. E. L. Scotter et al., J. Cell Sci. 127, 1263-1278 (2014).
29. S. Morton, L. Hesson, M. Peggie, P. Cohen, FEBS Lett. 582, 997-1002 (2008).
30. M. Pilli et al., Immunity 37, 223-234 (2012).
31. C. E. Gleason, A. Ordureau, R. Gourlay, J. S. Arthur, P. Cohen, J. Biol. Chem. 286, 35663-35674 (2011).
32. P. Wild et al., Science 333, 228-233 (2011).
33. J. Korac et al., J. Cell Sci. 126, 580-592 (2013).
34. Y. C. Wong, E. L. Holzbaur, Proc. Natl. Acad. Sci. U.S.A. 111, E4439-E4448 (2014).
35. J. R. Buchan, R. M. Kolaitis, J. P. Taylor, R. Parker, Cell 153, 1461-1474 (2013).
36. M. Ramaswami, J. P. Taylor, R. Parker, Cell 154, 727-736 (2013).
37. M. Komatsu, S. Kageyama, Y. Ichimura, Pharmacol. Res. 66, 457-462 (2012).
38. K. Clark et al., Biochem. J. 434, 93-104 (2011).
39. S. Sharma et al., Science 300, 1148-1151 (2003).
40. K. A. Fitzgerald et al., Nat. Immunol. 4, 491-496 (2003).
41. H. Hemmi et al., J. Exp. Med. 199, 1641-1650 (2004).
42. S. Liu et al., Science 10.1126/science.aaa2630 (2015).
43. M. G. Wathelet et al., Mol. Cell 1, 507-518 (1998).
44. C. K. Glass, K. Saijo, B. Winner, M. C. Marchetto, F. H. Gage, Cell 140, 918-934 (2010).
45. Y. Yang et al., Nat. Genet. 29, 160-165 (2001).
46. J. Li et al., Int. J. Cancer 134, 1972-1980 (2014).
47. M. Kato et al., Cell 149, 753-767 (2012).
48. E. B. Lee, V. M. Lee, J. Q. Trojanowski, Nat. Rev. Neurosci. 13, 38-50 (2012).
49. Exome Aggregation Consortium (ExAC); http://exac.broadinstitute.org.
50. P. Van Damme, W. Robberecht, Curr. Opin. Neurol. 26, 466-472 (2013).
51. C. Münch, A. Rolfs, T. Meyer, Amyotroph. Lateral Scler. 9, 251-253 (2008).
52. T. Meyer et al., Neurology 65, 141-143 (2005).
53. A. Chesi et al., Nat. Neurosci. 16, 851-855 (2013).