Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Karim Matmat"'
Autor:
Karim Matmat, Jean-Baptiste Conart, Paul-Henri Graindorge, Sandra El Kouche, Ziad Hassan, Youssef Siblini, Rémy Umoret, Ramia Safar, Okan Baspinar, Aurélie Robert, Jean-Marc Alberto, Abderrahim Oussalah, David Coelho, Jean-Louis Guéant, Rosa-Maria Guéant-Rodriguez
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background MTR gene encodes the cytoplasmic enzyme methionine synthase, which plays a pivotal role in the methionine cycle of one-carbon metabolism. This cycle holds a significant importance in generating S-adenosylmethionine (SAM) and S-ade
Externí odkaz:
https://doaj.org/article/5befbbb86cbf45bca915fe1435c9c244
Autor:
Arnaud Wiedemann, Abderrahim Oussalah, Rosa-Maria Guéant Rodriguez, Elise Jeannesson, Marc Mertens, Irina Rotaru, Jean-Marc Alberto, Okan Baspinar, Charif Rashka, Ziad Hassan, Youssef Siblini, Karim Matmat, Manon Jeandel, Celine Chery, Aurélie Robert, Guillaume Chevreux, Laurent Lignières, Jean-Michel Camadro, François Feillet, David Coelho, Jean-Louis Guéant
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104911- (2024)
Summary: Background: The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in methylmalonyl-coA mutase (MUT) and methionine synthase (
Externí odkaz:
https://doaj.org/article/2d3ab102cea844078b893c2d92774c33
Autor:
Karim Matmat, Jean-Baptiste Conart, Paul-Henri Graindorge, Sandra El Kouche, Ziad Hassan, Youssef Siblini, Rémy Umoret, Ramia Safar, Okan Baspinar, Aurélie Robert, Jean-Marc Alberto, Abderrahim Oussalah, Sébastien Hergalant, David Coelho, Jean-Louis Guéant, Rosa-Maria Guéant-Rodriguez
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/90ae243dc7bf4338b25ff630391c4d92
Autor:
Ziad Hassan, David Coelho, Carine Bossenmeyer-Pourié, Karim Matmat, Carole Arnold, Aurélie Savladori, Jean-Marc Alberto, Rémy Umoret, Jean-Louis Guéant, Grégory Pourié
Publikováno v:
Cells, Vol 12, Iss 9, p 1267 (2023)
Impairment of one-carbon metabolism during pregnancy, either due to nutritional deficiencies in B9 or B12 vitamins or caused by specific genetic defects, is often associated with neurological defects, including cognitive dysfunction that persists eve
Externí odkaz:
https://doaj.org/article/4238e1b136d94a18b1cbbbcb39e748e3
Autor:
David Coelho, J.-B. Conart, Arnaud Wiedemann-Fodé, Carlo Dionisi-Vici, Karim Matmat, Rosa-Maria Guéant-Rodriguez, Abderrahim Oussalah, Jean-Louis Guéant
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02350-8⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02350-8⟩
International audience; Inherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU). Clinical presentation includes ophthalmological manifestations related to retina, optic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fa127ddc5ab01c4382e5005a8df5e05
https://hal.univ-lorraine.fr/hal-03411798
https://hal.univ-lorraine.fr/hal-03411798
