Ultrastructural studies of rod photoreceptor nuclei from SCA7 mouse
Springer eBooks(2008)
摘要
The spinocerebellar ataxia SCA7 is a polyglutamine (polyQ) expansion disease in which the retina is affected and results in blindness. Ataxin-7 (ATXN7), the protein mutated in SCA7, is a subunit of the hSAGA complex. The hSAGA coactivator is known to regulate transcription, notably through histone acetylation mediated by the GCN5 histone acetyltransferase. In SCA7 mouse models the overexpression of polyQexpanded ATXN7 in rod photoreceptors induces a progressive retinal phenotype resulting in rods dysfunction with electrophysiological, histological and transcriptional abnormalities leading to a dramatic alteration of the rod nuclear architecture [1].
更多查看译文
关键词
SCA7,TFTC/STAGA,high pressure freezing,cryo-substitution,electron microscopy
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络