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2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance.
Dong A, Ghiaccio V, Motta I, Guo S, Peralta R, Freier SM, Watt A, Damle S, Ikawa Y, Jarocha D, Chappell M, Stephanou C, Delbini P, Chen C, Christou S, Kleanthous M, Smith-Whitley K, Manwani D, Casu C, Abdulmalik O, Cappellini MD, Rivella S, Breda L. Dong A, et al. Among authors: delbini p. Haematologica. 2019 May 1;106(5):1433-1442. doi: 10.3324/haematol.2019.226852. Haematologica. 2019. PMID: 32439726 Free PMC article.
The autophagy-activating kinase ULK1 mediates clearance of free α-globin in β-thalassemia.
Lechauve C, Keith J, Khandros E, Fowler S, Mayberry K, Freiwan A, Thom CS, Delbini P, Romero EB, Zhang J, Motta I, Tillman H, Cappellini MD, Kundu M, Weiss MJ. Lechauve C, et al. Among authors: delbini p. Sci Transl Med. 2019 Aug 21;11(506):eaav4881. doi: 10.1126/scitranslmed.aav4881. Sci Transl Med. 2019. PMID: 31434755 Free PMC article.
Enzyme replacement therapy improves erythropoiesis and iron dysregulation in Gaucher disease.
Motta I, Delbini P, Scaramellini N, Ghiandai V, Duca L, Nava I, Nascimbeni F, Lugari S, Consonni D, Trombetta E, Di Stefano V, Migone De Amicis M, Cassinerio E, Carubbi F, Cappellini MD. Motta I, et al. Among authors: delbini p. Ann Hematol. 2024 Oct 7. doi: 10.1007/s00277-024-05918-2. Online ahead of print. Ann Hematol. 2024. PMID: 39370488
14 results