FUS mutations in sporadic amyotrophic lateral sclerosis.
FUS mutations in sporadic amyotrophic lateral sclerosis.
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DOI：
10.1016/j.neurobiolaging.2009.12.020
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发表时间：
2011-03
影响因子：
4.2
通讯作者：
Traynor, Bryan J.
中科院分区：
文献类型：
--
作者：
Lai, Shiao-Lin;Abramzon, Yevgeniya;Schymick, Jennifer C.;Stephan, Dietrich A.;Dunckley, Travis;Dillman, Allissa;Cookson, Mark;Calvo, Andrea;Battistini, Stefania;Giannini, Fabio;Caponnetto, Claudia;Luigi, Giovanni;Spataro, Rossella;Monsurro, Maria Rosaria;Tedeschi, Gioacchino;Marinou, Kalliopi;Sabatelli, Mario;Conte, Amelia;Mandrioli, Jessica;Sola, Patrizia;Salvi, Fabrizio;Bartolomei, Ilaria;Lombardo, Federica;Mora, Gabriele;Restagno, Gabriella;Chio, Adriano;Traynor, Bryan J.
FUS基因突变最近被描述为家族性ALS的原因，但其在散发性ALS发病机制中的作用尚不清楚。我们在228例散发性ALS病例中对FUS的所有编码外显子进行了突变筛查，并且，由于先前的报告表明外显子15代表突变热点，我们在另外1，295例散发性病例中对该外显子进行了测序。在六个不同的病例中发现了六种变异，表明FUS突变可以成为明显散发性ALS的基础，但占这种疾病的不到1%。
Mutations in the FUS gene have recently been described as a cause of familial ALS, but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1,295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.
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影响因子：
4.2
作者：
Chio, Adriano;Restagno, Gabriella;Brunetti, Maura;Ossola, Irene;Calvo, Andrea;Mora, Gabriele;Sabatelli, Mario;Monsurro, Maria Rosaria;Battistini, Stefania;Mandrioli, Jessica;Salvi, Fabrizio;Spataro, Rossella;Schymick, Jennifer;Traynor, Bryan J.;La Bella, Vincenzo
通讯作者：
La Bella, Vincenzo
影响因子：
56.9
作者：
Kwiatkowski, T. J., Jr.;Bosco, D. A.;Brown, R. H., Jr.
通讯作者：
Brown, R. H., Jr.
影响因子：
5.3
作者：
Bourbon, M;Sun, X-M;Soutar, A K
通讯作者：
Soutar, A K
DOI：
10.1126/science.1165942
发表时间：
2009-02-27
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
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
通讯作者：
Shaw CE
影响因子：
9.9
作者：
Belzil, V. V.;Valdmanis, P. N.;Rouleau, G. A.
通讯作者：
Rouleau, G. A.