ABCMdb

PMID: 22362925

Fernandez Alanis E, Pinotti M, Dal Mas A, Balestra D, Cavallari N, Rogalska ME, Bernardi F, Pagani F
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
Hum Mol Genet. 2012 Jun 1;21(11):2389-98. Epub 2012 Feb 23., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCC7 p.Ala566Thr In the CFTR exon 12, we studied five donor-site substitutions and, as models for exonic mutations that affect splicing, two codon changes (A566T and Y577Y) located in the previously reported CERES element (7) (Supplementary Material, Table S1). Login to comment 44 ABCC7 p.Ala566Thr In the CFTR exon 12, we studied five donor-site substitutions and, as models for exonic mutations that affect splicing, two codon changes (A566T and Y577Y) located in the previously reported CERES element (7) (Supplementary Material, Table S1). Login to comment 52 ABCC7 p.Ala566Thr On the other hand, all mutations in CFTR exon 12, either located at the donor sites (in position 21, +3 and +5) or in the exon (A566T and Y577Y), induced exon skipping (Fig. 1D). Login to comment 53 ABCC7 p.Ala566Thr ABCC7 p.Ala566Thr In is worth noting that the A566T and Y577Y exonic variants affect exonic splicing regulatory elements (7), which are important for correct exon definition. Login to comment 54 ABCC7 p.Ala566Thr In is worth noting that the A566T and Y577Y exonic variants affect exonic splicing regulatory elements (7), which are important for correct exon definition. Login to comment 127 ABCC7 p.Ala566Thr Intriguingly, we observed complete splicing correction by ExSpeU1 cf11 of the two exonic A566T and Y577Y mutations (Fig. 6B, lanes 1-4). Login to comment 128 ABCC7 p.Ala566Thr Intriguingly, we observed complete splicing correction by ExSpeU1 cf11 of the two exonic A566T and Y577Y mutations (Fig. 6B, lanes 1-4). Login to comment