Citations for
1ALS6, FUS
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.
Groen EJ, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DM, Koppers M, van Diggelen F, van Heest J, Demmers JA, Kirby J, Shaw PJ, Aronica E, Spliet WG, Veldink JH, van den Berg LH, Pasterkamp RJ.
Hum Mol Genet 22(18):3690-704. doi: 10.1093/hmg/ddt222. Epub 2013 May 15. 2013
2ALS6, ATXN2, FUS
Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.
Farg MA, Soo KY, Warraich ST, Sundaramoorthy V, Blair IP, Atkin JD.
Hum Mol Genet 22(4):717-28. doi: 10.1093/hmg/dds479. Epub 2012 Nov 19. 2013
3ALS6, FUS, PRMT1
Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations.
Tradewell ML, Yu Z, Tibshirani M, Boulanger MC, Durham HD, Richard S.
Hum Mol Genet 21(1):136-49. Epub 2011 Sep 28. 2012
4ALS6, FUS, TNPO1
Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS).
Zhang ZC, Chook YM.
Proc Natl Acad Sci U S A 109(30):12017-21. doi: 10.1073/pnas.1207247109. Epub 2012 Jul 9. 2012
5ALS6, FUS
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.
Belzil VV, St-Onge J, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA.
J Hum Genet 56(3):247-9. Epub 2010 Dec 16. 2011
6ALS6, FUS
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.
Suzuki N, Aoki M, Warita H, Kato M, Mizuno H, Shimakura N, Akiyama T, Furuya H, Hokonohara T, Iwaki A, Togashi S, Konno H, Itoyama Y.
J Hum Genet 55(4):252-4. Epub 2010 Mar 12. 2010
7ALS6, FUS
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.
Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarů G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V.
J Med Genet 47(3):190-4. Epub 2009 Oct 26.PMID: 19861302 2010
8ALS10, ALS6, FUS, TARDBP
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.
Ling SC, Albuquerque CP, Han JS, Lagier-Tourenne C, Tokunaga S, Zhou H, Cleveland DW.
Proc Natl Acad Sci U S A 107(30):13318-23. Epub 2010 Jul 12.PMID: 20624952 2010
9ALS1, ALS10, ALS6, ALS8, ALS9, ANG, FUS, SOD1, TARDBP, VAPB
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.
J Med Genet 47(8):554-60. Epub 2010 Jun 24.PMID: 20577002 2010
10ALS6, FUS
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.
Dormann D, Rodde R, Edbauer D, Bentmann E, Fischer I, Hruscha A, Than ME, Mackenzie IR, Capell A, Schmid B, Neumann M, Haass C.
EMBO J 29(16):2841-57. Epub 2010 Jul 6.PMID: 20606625 2010
11ALS6, FUS
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.
Bosco DA, Lemay N, Ko HK, Zhou H, Burke C, Kwiatkowski TJ Jr, Sapp P, McKenna-Yasek D, Brown RH Jr, Hayward LJ.
Hum Mol Genet 19(21):4160-75. Epub 2010 Aug 10. 2010
12ALS6, FUS, TARDBP
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.
Science 323(5918):1205-8. 2009
13ALS6, FUS, TARDBP
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.
Science 323(5918):1208-11. 2009
14ALS6, FUS, TARDBP
Rethinking ALS: the FUS about TDP-43.
Lagier-Tourenne C, Cleveland DW.
Cell 136(6):1001-4. Review. 2009
15ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
Complex genetics of amyotrophic lateral sclerosis.
Kunst CB.
Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
16ALS6
A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.
Abalkhail H, Mitchell J, Habgood J, Orrell R, de Belleroche J.
Am J Hum Genet 73(2):383-9. Epub 2003 Jun 26. 2003
17ALS6
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.
Ruddy DM, Parton MJ, Al-Chalabi A, Lewis CM, Vance C, Smith BN, Leigh PN, Powell JF, Siddique T, Meyjes EP, Baas F, de Jong V, Shaw CE.
Am J Hum Genet 73(2):390-6. Epub 2003 Jul 01. 2003
18ALS6, ALS7
Identification of two novel Loci for dominantly inherited familial amyotrophic lateral sclerosis.
Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown RH Jr.
Am J Hum Genet 73(2):397-403. Epub 2003 Jul 09. 2003