Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Emmanuel Richard"'
Autor:
Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche, Emmanuel Richard, Isabelle Redonnet-Vernhet, Samir Mesli, Louis Lebreton
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Holocarboxylase synthase (HCS) deficiency is an extremely rare metabolic disorder typically presenting as severe neonatal metabolic acidosis, lethargy, hypotonia, vomiting, and seizures. This report describes two siblings in a family with late-onset
Externí odkaz:
https://doaj.org/article/b37e84d2e6534cbfb3a10dfc51bd72a2
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
Autor:
Emmanuel Richard
Publikováno v:
Boletim do Museu Paraense Emílio Goeldi. Ciências Humanas, Vol 19, Iss 1 (2024)
Resumo A reflexão que propomos neste artigo consiste em uma investigação sobre os nomes jocosos – buere wame, na língua tuyuka, ‘apelidos’, em português –, no âmbito mais amplo dos nomes pessoais e coletivos. A reflexão sobre a criaç
Externí odkaz:
https://doaj.org/article/f9d43a62eeb548cc87c87412a2981168
Publikováno v:
Life, Vol 14, Iss 5, p 581 (2024)
Porphyria denotes a heterogeneous group of metabolic disorders caused by anomalies in the biosynthesis of heme, a crucial component of hemoglobin and other vital hemoproteins [...]
Externí odkaz:
https://doaj.org/article/4905c80da3a44c8384fd0373d60ab09c
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
Autor:
Anaïs Marie, Julien Leroy, Morgane Darricau, Serge Alfos, Veronique De Smedt-Peyrusse, Emmanuel Richard, Sylvie Vancassel, Clementine Bosch-Bouju
Publikováno v:
Frontiers in Nutrition, Vol 9 (2022)
BackgroundThe mechanisms leading to a loss of dopaminergic (DA) neurons from the substantia nigra pars compacta (SNc) in Parkinson's disease (PD) have multifactorial origins. In this context, nutrition is currently investigated as a modifiable enviro
Externí odkaz:
https://doaj.org/article/7d3d35feb5794d99813ecbf9905df446
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
Autor:
Grégoire Cullot, Julian Boutin, Jérôme Toutain, Florence Prat, Perrine Pennamen, Caroline Rooryck, Martin Teichmann, Emilie Rousseau, Isabelle Lamrissi-Garcia, Véronique Guyonnet-Duperat, Alice Bibeyran, Magalie Lalanne, Valérie Prouzet-Mauléon, Béatrice Turcq, Cécile Ged, Jean-Marc Blouin, Emmanuel Richard, Sandrine Dabernat, François Moreau-Gaudry, Aurélie Bedel
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
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
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