An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.     

一种新型高价锰取代的多金属氧酸盐合成、结构及性质研究

在含有MnⅡ的夹心型多金属氧酸盐水溶液中加入强氧化剂KMnO4,制得一种新型的含有MnⅢ的多金属氧酸盐K5Na3[{MnⅢ(H2O)}2(WO)(H2O) (AsW9O33)2]·18H2O (KNa-1).该化合物的多阴离子结构是基于2个B-α-[AsW9]三缺位Keggin型构筑单元,中间夹着2个{MnⅢ(H2O)}和1个{WⅥO}片段而构成的夹心式构型.对KNa-1进行了变温磁化率测定并采用双核MnⅢ簇为模型进行了拟合,并对该化合物进行了电化学分析.结果表明:KNa-1 中的2个MnⅢ中心存在弱的反铁磁相互作用;化合物中的MnⅢ离子具有不可逆的氧化还原过程.