ABCMdb

PMID: 16458894

Ayala YM, Pagani F, Baralle FE
TDP43 depletion rescues aberrant CFTR exon 9 skipping.
FEBS Lett. 2006 Feb 20;580(5):1339-44. Epub 2006 Jan 26., [PubMed]

Sentences

No. Mutations Sentence Comment

13 ABCC7 p.Ala455Glu Among these are mutations in composite exonic regulatory elements of splicing (CERES) that disrupt positive regulatory elements and thus result in exon skipping (e.g., A455E) [5]. Login to comment 94 ABCC7 p.Ala455Glu One of the positive elements, found in the exon, can be affected by a naturally occurring mutation associated with CF (A455E). Login to comment 95 ABCC7 p.Ala455Glu One of the positive elements, found in the exon, can be affected by a naturally occurring mutation associated with CF (A455E). Login to comment 146 ABCC7 p.Ala455Glu Therefore, TDP43 downregulation would also improve CFTR expression in cases of positive splicing element disruption, such as in the A455E (C1496A) mutation. Login to comment 147 ABCC7 p.Ala455Glu Therefore, TDP43 downregulation would also improve CFTR expression in cases of positive splicing element disruption, such as in the A455E (C1496A) mutation. Login to comment