we used theDrosophilaGAL4/UAS system and RNA interference (RNAi) to deplete SMN in specific tissues [51]. We and others have previously employed this system to create partial SMN loss-of-function models that typically cause pupal lethality, although weakly viable adults ...
The gRNA-targeting sequence is labeled in green. (D) Diagram of the Cas9-gRNA-targeted site in common carp mstnba. The restriction enzyme StyI site is underlined. E: exons. (E) Enzymatic digestion analysis of Cas9-mediated cleavage at mstnba in carp embryos. The mstnba-targeted fragment ...
To calculate the splicing efficiency, a semiquantitative analysis was performed with a plasmid-specific primer and a FAM-labeled SMN-specific primer; the PCR products were run on the ABI 3730 automatic sequencing system (Applied Biosystems) and the raw data were analyzed with Gene marker version ...
The DNA damage repair system is a crucial system to maintain genomic integrity, which is especially relevant for terminally differentiated and long-lived cells such as neurons. It is easy to speculate how an increase in the activity in the basic cellular repair mechanisms could be neuroprotective....
Chromatographic separations were performed on an Easy nLC 1200 chromatography system. Quantitative analysis of the samples was carried out on a Q-Exactive Plus mass spectrometer (Thermo Scientific) using data-dependent acquisition (DDA). MS data were acquired using a data-dependent top20 method by ...
Spinal muscular atrophy (SMA) is caused by deletions or mutations ofSurvival Motor Neuron 1(SMN1) gene. The nearly identicalSMN2cannot compensate forSMN1loss due to exon 7 skipping. The allele C (C+/+) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monitor the...
Another open-labeled extension trial enrolling 260 patients was initiated in 2018 to assess the safety and tolerability of long-term (144 weeks) casimersen or golodirsen medications (NCT03532542). Recently, Sarepta Therapeutics has submitted an NDA to FDA, seeking accelerated approval for casimersen....