Výsledky vyhledávání - "Jean-Marc Blouin"

Akademický článek

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Autor: Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101076- (2024)

Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treat

Externí odkaz: https://doaj.org/article/3f6cf5bab6a04cf087bfd971ca90b02d

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Akademický článek

Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives

Autor: Claire Goudet, Cécile Ged, Audrey Petit, Chloe Desage, Perrine Mahe, Aicha Salhi, Ines Harzallah, Jean-Marc Blouin, Patrick Mercie, Caroline Schmitt, Antoine Poli, Laurent Gouya, Vincent Barlogis, Emmanuel Richard

Publikováno v: Life, Vol 14, Iss 1, p 130 (2024)

(1) Background: Congenital erythropoietic porphyria (CEP), named Günther’s disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges

Externí odkaz: https://doaj.org/article/4c90326ad20846f182b5990fcbec2016

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Akademický článek

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

Autor: Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100722- (2021)

Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins. Thes

Externí odkaz: https://doaj.org/article/d94966ec4ecb4b5b89626f93d399b2b2

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Akademický článek

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

CRISPR-Cas9 has been rapidly adopted to generate cell line models of disease. Here the authors show, while attempting to establish a congenital erythropoietic porphyria model, unexpected chromosome truncations generated by a p53-dependent mechanism.

Externí odkaz: https://doaj.org/article/3a225f969b444010a97c3369c573fb50

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Akademický článek

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

Autor: Arienne Mirmiran, Antoine Poli, Cecile Ged, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Raêd Daher, Boualem Moulouel, Katell Peoc'h, Sylvie Simonin, Jean-Marc Blouin, Jean-Charles Deybach, Gaël Nicolas, Hervé Puy, Emmanuel Richard, Laurent Gouya

Publikováno v: Haematologica, Vol 106, Iss 3 (2020)

Externí odkaz: https://doaj.org/article/3018d12d818e44ffa5ca8c1e5ce3ef91

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Akademický článek

Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1

Autor: Julie Estève, Jean-Marc Blouin, Magalie Lalanne, Lamia Azzi-Martin, Pierre Dubus, Audrey Bidet, Jérôme Harambat, Brigitte Llanas, Isabelle Moranvillier, Aurélie Bedel, François Moreau-Gaudry, Emmanuel Richard

Publikováno v: Stem Cell Research, Vol 38, Iss , Pp - (2019)

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of the liver metabolism due to functional deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in overproduction of oxalate wh

Externí odkaz: https://doaj.org/article/476d4c6bd93d4628976d502a4aa2a62c

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CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

Autor: Jean-Marc Blouin, F. Prat, J. Rosier, Jean-Philippe Merlio, J. Bouron, Emmanuel Richard, Cécile Ged, Julian Boutin, Isabelle Lamrissi-Garcia, Aurélie Bedel, Sandrine Dabernat, François Moreau-Gaudry, G. Cullot, J. Toutain, Caroline Rooryck, Perrine Pennamen, Véronique Guyonnet-Dupérat, D. Cappellen, Samuel Amintas

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-25190-6⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-25190-6⟩

CRISPR-Cas9 is a promising technology for gene therapy. However, the ON-target genotoxicity of CRISPR-Cas9 nuclease due to DNA double-strand breaks has received little attention and is probably underestimated. Here we report that genome editing targe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb74bfd20b4608945b76780551b62ec
https://doaj.org/article/e2a0368b510f4b0f8a6f33bea02556ca

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Spleen route accelerates engraftment of human hematopoietic stem cells

Autor: Aurélie Bedel, Isabelle Lamrissi-Garcia, S. Poglio, Julian Boutin, Benoit Rousseau, Jean-Marc Blouin, Isabelle Moranvillier, Samuel Amintas, Sandrine Dabernat, Emmanuel Richard, P. Brunet de la Grange, François Moreau-Gaudry

Publikováno v: Biochemical and biophysical research communications. 569

Intravenous injections of human hematopoietic stem cells (hHSCs) is routinely used in clinic and for modeling hematopoiesis in mice. However, unspecific dilution in vascular system and non-hematopoietic organs challenges engraftment efficiency. Altho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd09855520b0c2c346acf8b95dba60d9
https://pubmed.ncbi.nlm.nih.gov/34216994

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Recurrent posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria

Autor: Jean-Marc Blouin, M. Fourgeaud, Caroline Schmitt, Emmanuel Richard, T. Vidal, Cécile Ged

Publikováno v: Revue Neurologique. 176:118-120

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c7bf956716c1cabc13dcebfed64e9cd
https://doi.org/10.1016/j.neurol.2019.02.003

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Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology

Autor: Jean-Marc Blouin, Pierre Dubus, J.P. Esteve, Audrey Bidet, Lamia Azzi-Martin, Aurélie Bedel, Brigitte Llanas, Emmanuel Richard, François Moreau-Gaudry, Jérôme Harambat, Magalie Lalanne, Isabelle Moranvillier

Publikováno v: Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2019, 517, pp.677-683. ⟨10.1016/j.bbrc.2019.07.109⟩

Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder caused by a deficiency of the peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which leads to overproduction of oxalate by the liver and results in urolithiasis, nephr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e4fece8c35c965ad2109e31c1db5f84
https://doi.org/10.1016/j.bbrc.2019.07.109

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