Figure 1: High-score SR protein motifs in exon ... gene SMN2 to provide full protection against spinal muscular atrophy stems from inefficient recognition of an exonic splicing enhancer by the ...

A large fraction of point mutations that cause genetic ... to the correct identification of exon–intron boundaries. For example, exonic splicing enhancer (ESE) and silencer (ESS) elements ...

The SMN2 gene has a nucleotide substitution ... This phenomenon can be explained by the presence of another mutation that introduced a new exon splice enhancer causing higher production of the ...

On the other hand, the SMN2 gene is substituted in a single nucleotide (840C > T), which happens to be an exonic splicing enhancer ... such as other exon 7 mutations which restored the exon ...

Mutations were associated with various forms of abnormal splicing, including failure to transcribe part or all of an exon and creation ... loss or gain of splicing enhancers or silencers.

Also called "floppy baby syndrome," SMA results from mutation in ... the gene called an exon splice enhancer, which controls how introns are removed. The tiny difference in SMN2 effectively ...

This ASO corrects mis-splicing of the SMN2 gene ... long ASOs spanning the entire cryptic exon. They tested 250 of them in human neuroblastoma cells that carried two copies of the ALS/FTD-linked N352S ...

Buchner then realized that the mutation had a second effect, namely, to eliminate a splicing enhancer and thus effectively remove one whole exon from the protein. So what does SCNM1 do? By comparing ...