Title: | Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease |
Journal : | Molecular therapy. Nucleic acids, 7 |
Authors: | van der Wal E, Author ; Bergsma AJ ; Pijnenburg JM ; van der Ploeg AT ; Pijnappel WWMP |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 90 |
Languages: | English |
Keywords : | antisense oligonucleotides ; cell cultures ; fibroblasts ; GAA gene ; gene therapy ; genetic mutations ; morpholinos ; Pompe disease ; splicing |
Keywords: | GAA;IVS1;Pompe disease;U7 snRNA screen;acid alpha-glucosidase;antisense oligonucleotides;exon inclusion;lysosomal storage disease;lysosomal storage disorder;metabolic disorder;pre-mRNA splicing;skeletal muscle; |
Pubmed / DOI : | DOI : 10.1016/j.omtn.2017.03.001 / Pubmed : 28624228 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28624228 |