Thursday, Oct. 20, 12:00 - 12:15 pm, Room 302, West Building Platform Presentation:
Exon inclusion for the treatment of splice site mutation in merosin - deficient congenital muscular dystrophy D.U. Kemaladewi, Hospital for Sick Children, et al
Next, differential
exon inclusion was tested with Wilcoxon Sum Rank test, with multiple testing adjustments by Benjamini - Hochberg method44, and the median of the PSI values in each group calculated.
For example, PPAM alters the molecular composition of the serotonin receptor 2C through direct binding to the pre-mRNA causing a conformational change, which makes the regulated splice site more accessible to the splicing machinery, such promoting alternative
exon inclusion [86].
Not exact matches
Enhancement of SMN2
exon 7
inclusion by antisense oligonucleotides targeting the
exon.
Several strategies have been pursued to increase the extent of
exon 7
inclusion in the splicing of SMN2, for eventual use as therapeutics for SMA.
HIV -1-Tat Inhibits SC35 - Mediated Tau
Exon 10
Inclusion through Upregulation of DYRK1A Kinase.
a Distribution of the number of
exons with significant differential
inclusion across the different tissues; inset: number of
exons with differential
inclusion occurring in multiple tissues.
b, c Examples of two
exons with PMI - correlated
inclusion levels.
The percent - spliced - in (PSI) metric was computed as in Wang et al. 33 by using
inclusion and exclusion reads with the minimum total count of 5 reads; that is,
exons for which the combined number of
inclusion and exclusion reads was less than 5 were excluded.
We calculated the
inclusion levels33 of internal
exons (Supplementary Fig. 18a, Methods).
Other companies, including the Swiss drug giants Novartis and Roche, along with Boston's Paratek Pharmaceuticals, are developing ingestible small - molecule drugs designed to increase the
inclusion of SMN2 «s
exon 7.
The vast majority of receptor genes contain several
exons and it is common to observe differential
inclusion of these, diversifying the transcript set produced from each gene.