Ontology highlight
ABSTRACT:
SUBMITTER: Bestas B
PROVIDER: S-EPMC4151202 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Bestas Burcu B Moreno Pedro M D PM Blomberg K Emelie M KE Mohammad Dara K DK Mohammad Dara K DK Saleh Amer F AF Sutlu Tolga T Nordin Joel Z JZ Guterstam Peter P Gustafsson Manuela O MO Kharazi Shabnam S Piątosa Barbara B Roberts Thomas C TC Behlke Mark A MA Wood Matthew J A MJ Gait Michael J MJ Lundin Karin E KE El Andaloussi Samir S Månsson Robert R Berglöf Anna A Wengel Jesper J Smith C I Edvard CI
The Journal of clinical investigation 20140808 9
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton's tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development. Here, we assessed the potential of antisense, splice-correcting oligonucleotides (SCOs) targeting mutated BTK transcripts for treating XLA. Both the SCO structural design and chemical properties were optimized using 2'-O-methyl, locked nucleic ac ...[more]