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31 results

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Page 1
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
Urquiza P, Laín A, Sanz-Parra A, Moreno J, Bernardo-Seisdedos G, Dubus P, González E, Gutiérrez-de-Juan V, García S, Eraña H, San Juan I, Macías I, Ben Bdira F, Pluta P, Ortega G, Oyarzábal J, González-Muñiz R, Rodríguez-Cuesta J, Anguita J, Díez E, Blouin JM, de Verneuil H, Mato JM, Richard E, Falcón-Pérez JM, Castilla J, Millet O. Urquiza P, et al. Among authors: blouin jm. Sci Transl Med. 2018 Sep 19;10(459):eaat7467. doi: 10.1126/scitranslmed.aat7467. Sci Transl Med. 2018. PMID: 30232228
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.
Estève J, Blouin JM, Lalanne M, Azzi-Martin L, Dubus P, Bidet A, Harambat J, Llanas B, Moranvillier I, Bedel A, Moreau-Gaudry F, Richard E. Estève J, et al. Among authors: blouin jm. Biochem Biophys Res Commun. 2019 Oct 1;517(4):677-683. doi: 10.1016/j.bbrc.2019.07.109. Epub 2019 Aug 8. Biochem Biophys Res Commun. 2019. PMID: 31402115
Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).
Lefebvre T, Millot S, Richard E, Blouin JM, Lalanne M, Lamrissi-Garcia I, Costet P, Lyoumi S, Gouya L, Puy H, Moreau-Gaudry F, de Verneuil H, Karim Z, Ged C. Lefebvre T, et al. Among authors: blouin jm. Biochem Biophys Res Commun. 2019 Dec 3;520(2):297-303. doi: 10.1016/j.bbrc.2019.09.141. Epub 2019 Oct 7. Biochem Biophys Res Commun. 2019. PMID: 31601421
Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.
Mirmiran A, Poli A, Ged C, Schmitt C, Lefebvre T, Manceau H, Daher R, Moulouel B, Peoc'h K, Simonin S, Blouin JM, Deybach JC, Nicolas G, Puy H, Richard E, Gouya L. Mirmiran A, et al. Among authors: blouin jm. Haematologica. 2021 Mar 1;106(3):913-917. doi: 10.3324/haematol.2019.228270. Haematologica. 2021. PMID: 31919078 Free PMC article. No abstract available.
Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
Prat F, Toutain J, Boutin J, Amintas S, Cullot G, Lalanne M, Lamrissi-Garcia I, Moranvillier I, Richard E, Blouin JM, Dabernat S, Moreau-Gaudry F, Bedel A. Prat F, et al. Among authors: blouin jm. Stem Cell Reports. 2020 Sep 8;15(3):677-693. doi: 10.1016/j.stemcr.2020.07.015. Epub 2020 Aug 13. Stem Cell Reports. 2020. PMID: 32795423 Free PMC article.
31 results