Topic: CRISPR-Cas

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by an abnormal expansion of the trinucleotide CAG in the coding region of the ATXN2 gene. This is translated into an expanded polyglutamine tract in the ataxin-2 protein, leading to a gain of toxic function affecting especially the neurons. Besides the pathogenic mechanisms triggered by ataxin-2 dysfunction, previous studies showed that abnormally expanded CAG repeats display toxicity already at the RNA level, contributing to disease pathogenesis. Considering these data, it is important to develop therapeutic approac

The transcription factor P73 belongs to the p53 protein family, and its gene encodes two main isoforms: the transcriptionally active TAp73 isoform and the dominant-negative ΔNp73. Both isoforms play pivotal roles in regulating the self-renewal and differentiation of neural stem/progenitor cells, thus play a critical role in brain development during neuronal differentiation. Mutations in TP73 are associated with lissencephaly in humans and severe brain defects in mice. The role of TP73 and its isoforms during neurogenesis in human is still unclear. Aiming to further scrutinize the role of TAP73