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Page 1
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
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.
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.
Álvarez M, Ruiz-Sala P, Pérez B, Desviat LR, Richard E.
Álvarez M, et al. Among authors: desviat lr.
Int J Mol Sci. 2023 Jan 22;24(3):2182. doi: 10.3390/ijms24032182.
Int J Mol Sci. 2023.
PMID: 36768524
Free PMC article.
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Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.
Alonso-Barroso E, Pérez B, Desviat LR, Richard E.
Alonso-Barroso E, et al. Among authors: desviat lr.
Int J Mol Sci. 2021 Jan 25;22(3):1161. doi: 10.3390/ijms22031161.
Int J Mol Sci. 2021.
PMID: 33503868
Free PMC article.
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Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR.
Rivera-Barahona A, et al. Among authors: desviat lr.
PLoS One. 2015 Apr 8;10(4):e0122966. doi: 10.1371/journal.pone.0122966. eCollection 2015.
PLoS One. 2015.
PMID: 25853564
Free PMC article.
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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.
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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
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Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.
Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR.
Rivera-Barahona A, et al. Among authors: desviat lr.
PLoS One. 2015 May 19;10(5):e0128506. doi: 10.1371/journal.pone.0128506. eCollection 2015.
PLoS One. 2015.
PMID: 25992811
Free PMC article.
No abstract available.
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