Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variabilityResearch in context

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

Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency

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

Vitamin B12-impaired metabolism produces apoptosis and Parkinson phenotype in rats expressing the transcobalamin-oleosin chimera in substantia nigra.

Autor: Carlos Enrique Orozco-Barrios, Shyue-Fang Battaglia-Hsu, Martha Ligia Arango-Rodriguez, Jose Ayala-Davila, Celine Chery, Jean-Marc Alberto, Henry Schroeder, Jean-Luc Daval, Daniel Martinez-Fong, Jean-Louis Gueant

Publikováno v: PLoS ONE, Vol 4, Iss 12, p e8268 (2009)

BACKGROUND:Vitamin B12 is indispensable for proper brain functioning and cytosolic synthesis of S-adenosylmethionine. Whether its deficiency produces effects on viability and apoptosis of neurons remains unknown. There is a particular interest in inv

Externí odkaz: https://doaj.org/article/de01613da0b04ac98e548582f5f93f21

Folate and Vitamin B12 Gestational Deficiency Disturb Glucocorticoid Response in Hypothalamus Through N-Homocysteinilation of the Glucocorticoid Receptor

Autor: Arnaud Michel, Tunay Kokten, Lynda Saber Cherif, Rémy Umoret, Jean-Marc Alberto, Déborah Helle, Amélia Julien, Daval Jean-Luc, Jean-Louis Guéant, Carine Bossenmeyer-Pourié, Grégory Pourié

Vitamin B9(folate)/B12 deficiency is known to induce brain structural and/or functional retardations. Besides neural tube defects in case of major consequences, several mild deregulations also lead to deleterious effect after birth, and folate supple

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8bd2ead99839e571261848329a625435
https://doi.org/10.20944/preprints202304.0383.v1

Programming by Methyl Donor Deficiency during Pregnancy and Lactation Produces Cardiomyopathy in Adult Rats Subjected to High Fat Diet

Autor: Fatiha Maskali, Laurent Brunaud, Zhen Li, Viola J Kosgei, Jean-Louis Guéant, Jean-Marc Alberto, Rosa-Maria Guéant-Rodriguez, Remi Umoret, Anais Bison

Publikováno v: Molecular Nutrition and Food Research
Molecular Nutrition and Food Research, Wiley-VCH Verlag, 2021, 65 (13), pp.2100065. ⟨10.1002/mnfr.202100065⟩

International audience; AbstractScope: Vitamin B12 and folate (methyl donors) deficiency is frequent during pregnancy. Experimental rat models with methyl donor deficit during pregnancy and lactation (Initial methyl donor deficit (iMDD)) produce impa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd85c8b1235ea110de520b61fe86332
https://pubmed.ncbi.nlm.nih.gov/33991387