Search results for "MUTATION PATTERN"
showing 2 items of 2 documents
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
2018
Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight. Here, we chose as a target the stem-loop RNA structure TSL2, which overlaps with the 5′ splicing site of E7. A small-molecule TSL2-binding compound, homocarbonyltopsentin (PK4C9), was identified that increases E7 splicing to therapeutic levels and rescues downstream molecular alterations in SMA cells. High-resolution NMR combined with molecular modelling revealed that PK4C9 binds to pentaloop conformati…
Right-jumps and pattern avoiding permutations
2015
We study the iteration of the process "a particle jumps to the right" in permutations. We prove that the set of permutations obtained in this model after a given number of iterations from the identity is a class of pattern avoiding permutations. We characterize the elements of the basis of this class and we enumerate these "forbidden minimal patterns" by giving their bivariate exponential generating function: we achieve this via a catalytic variable, the number of left-to-right maxima. We show that this generating function is a D-finite function satisfying a nice differential equation of order~2. We give some congruence properties for the coefficients of this generating function, and we sho…