Cell-penetrating peptide-conjugated, splice-switching oligonucleotides mitigate the phenotype in BTK/Tec double deficient X-linked agammaglobulinemia model

• DOI: 10.1039/d4cb00312h
• Publication Date: 2025-03-31T08:19:15Z
• Authors: Burcu Bestas; H. Yesid Estupiñán; Qing Wang; Shabnam Kharazi; Chenfei He; Dara K. Mohammad; Dhanu Gupta; Oscar P. B. Wikla...; Taavi Lehto; Karin E. Lundin; Anna Berglöf; Mikael C. I. Karl...; Frank Abendroth; Samir El Andaloussi; Michael J. Gait; Matthew J. A. Wood; Christian J. Leumann; Dmitry A. Stetsenko; Robert Månsson; Jesper Wengel; Rula Zain; C. I. Edvard Smith

Splice-switching oligonucleotides (SSOs) targeting BTK pre-mRNA offer a potential therapy for X-linked agammaglobulinemia (XLA). PMO-Pip6a conjugate treatment partially restores the B lineage phenotype, offering insights into splice correction in B cell maturation.