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Deletion of the TMEM30A gene enables leukemic cell evasion of NK cell cytotoxicity.
Kristenson L, Badami C, Ljungberg A, Islamagic E, Tian Y, Xie G, Hussein BA, Pesce S, Tang KW, Thorén FB. Kristenson L, et al. Proc Natl Acad Sci U S A. 2024 Apr 9;121(15):e2316447121. doi: 10.1073/pnas.2316447121. Epub 2024 Apr 1. Proc Natl Acad Sci U S A. 2024. PMID: 38557174 Free PMC article.
Glucose-derived glutamate drives neuronal terminal differentiation in vitro.
D'Andrea L, Audano M, Pedretti S, Pelucchi S, Stringhi R, Imperato G, De Cesare G, Cambria C, Laporte MH, Zamboni N, Antonucci F, Di Luca M, Mitro N, Marcello E. D'Andrea L, et al. EMBO Rep. 2024 Mar;25(3):991-1021. doi: 10.1038/s44319-023-00048-8. Epub 2024 Jan 19. EMBO Rep. 2024. PMID: 38243137 Free PMC article.
Liver-directed gene therapy for ornithine aminotransferase deficiency.
Boffa I, Polishchuk E, De Stefano L, Dell'Aquila F, Nusco E, Marrocco E, Audano M, Pedretti S, Caterino M, Bellezza I, Ruoppolo M, Mitro N, Cellini B, Auricchio A, Brunetti-Pierri N. Boffa I, et al. EMBO Mol Med. 2023 Apr 11;15(4):e17033. doi: 10.15252/emmm.202217033. Epub 2023 Jan 17. EMBO Mol Med. 2023. PMID: 36647689 Free PMC article.
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
Giorgio E, Garelli E, Carando A, Bellora S, Rubino E, Quarello P, Sirchia F, Marrama F, Gallone S, Grosso E, Pasini B, Massa R, Brussino A, Brusco A. Giorgio E, et al. J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9. J Hum Genet. 2019. PMID: 31501477 Free article.