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Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation.
Siciliano A, D'Alessandro A, Matte A, Bisello G, Bertoldi M, Dzieciatkowska M, Argabright A, Pozzetto RH, Riccardi V, Mattarei A, Ongaro A, Ceolan J, Russo R, Rivadeneyra L, Wind-Rotolo M, Iolascon A, Brugnara C, De Franceschi L. Siciliano A, et al. Among authors: bisello g. Blood Adv. 2025 Jun 10;9(11):2818-2830. doi: 10.1182/bloodadvances.2024013591. Blood Adv. 2025. PMID: 40085946 Free PMC article.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: bisello g. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
21 results