TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
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DOI：
10.1038/ng.132
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发表时间：
2008-05-01
期刊：
影响因子：
30.8
通讯作者：
Rouleau, Guy A.
中科院分区：
文献类型：
--
作者：
Kabashi, Edor;Valdmanis, Paul N.;Rouleau, Guy A.
最近，TDP-43被认为是肌萎缩侧索硬化症(ALS)泛素化聚集体的关键成分，ALS是一种成人起病的神经系统疾病，导致运动神经元退化。在这里，我们报告了9个个体中的8个错义突变-6个来自散发性ALS(SAL)个体，3个来自家族性ALS(FAL)-以及伴随着较小TDP-43产物的增加。这些发现进一步证实TDP-43参与了ALS的发病过程。
Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals-six from individuals with sporadic ALS ( SALS) and three from those with familial ALS ( FALS)-and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.