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Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US, Dembic M, Martínez-Pizarro A, Richard E, Holm LL, Havelund JF, Doktor TK, Larsen MR, Færgeman NJ, Desviat LR, Andresen BS. Spangsberg Petersen US, et al. Among authors: desviat lr. Mol Ther Nucleic Acids. 2023 Dec 13;35(1):102101. doi: 10.1016/j.omtn.2023.102101. eCollection 2024 Mar 12. Mol Ther Nucleic Acids. 2023. PMID: 38204914 Free PMC article.
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Among authors: desviat lr. Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350806 Free article.
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. Tighe O, et al. Among authors: desviat lr. Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195. Hum Mutat. 2003. PMID: 12655548