Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis.
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis.
复制标题
常染色体隐性遗传先天性鱼鳞病 TGM1 错义突变的功能研究。
DOI：
10.1111/exd.13000
复制
发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Hashimoto T.
中科院分区：
文献类型：
--
作者：
Numata S;Teye K;Karashima T;Matsuda M;Hamada T;Hashimoto T.
本文重点介绍了转谷氨酰胺酶1基因（TGM1）错义突变致病性引起的常染色体隐性遗传先天性鱼鳞病的相关研究。讨论的主题包括在突变体TGM1和野生型蛋白中通过免疫荧光发现的相似水平的蛋白质，细胞质和膜组分中蛋白质酶活性的差异，以及根据免疫印迹蛋白水平稳定性不受错义突变的影响。
The article focuses on a study related to autosomal recessive congenital ichthyosis due to pathogenicity of transglutaminase 1 gene (TGM1) missense mutations. Topics discussed include similar levels of proteins found by immunofluorescence in mutant TGM1 and wild-type proteins, difference in enzymatic activity of proteins in cytoplasmic and membrane fractions, and as per immunoblotting protein levels stability was not affected by missense mutations.