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Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B 12 metabolism

Jean-Louis Guéant , Rosa-Maria Guéant-Rodriguez , Viola Kosgei , David Coelho
Critical Reviews in Biochemistry and Molecular Biology, 2021, pp.1-23. ⟨10.1080/10409238.2021.1979459⟩
Article dans une revue hal-03411928v1

Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiency

Lü Peng , Natacha Dreumont , David Coelho , Jean-Louis Guéant , Carole Arnold
Biochimie, 2016, 126, pp.43-51. ⟨10.1016/j.biochi.2016.05.007⟩
Article dans une revue hal-01666747v1

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review

Karim Matmat , Rosa-Maria Guéant-Rodriguez , Abderrahim Oussalah , Arnaud Wiedemann-Fodé , Carlo Dionisi-Vici , et al.
Human Genetics, 2022, 141 (7), pp.1239-1251. ⟨10.1007/s00439-021-02350-8⟩
Article dans une revue hal-03411798v1

Sirt1-PPARS Cross-Talk in Complex Metabolic Diseases and Inherited Disorders of the One Carbon Metabolism

Viola Kosgei , David Coelho , Rosa-Maria Gueant-Rodriguez , Jean-Louis Guéant
Cells, 2020, 9 (8), pp.1882. ⟨10.3390/cells9081882⟩
Article dans une revue hal-02928676v1

Nutritional models of foetal programming and nutrigenomic and epigenomic dysregulations of fatty acid metabolism in the liver and heart

Jean-Louis Guéant , Rania Elakoum , Olivier Ziegler , David Coelho , Eva Feigerlova , et al.
Pflügers Archiv European Journal of Physiology, 2014, 466 (5), pp.833 - 850. ⟨10.1007/s00424-013-1339-4⟩
Article dans une revue hal-01691184v1

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B 12 -trafficking proteins ABCD4 and LMBD1

Victoria Fettelschoss , Patricie Burda , Corinne Sagné , David Coelho , Corinne de Laet , et al.
Journal of Biological Chemistry, 2017, 292 (28), pp.11980-11991. ⟨10.1074/jbc.M117.784819⟩
Article dans une revue hal-02351269v1
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A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Jean-Louis Guéant , Céline Chery , Abderrahim Oussalah , Javad Nadaf , David Coelho , et al.
Nature Communications, 2018, 9 (1), pp.67. ⟨10.1038/s41467-017-02306-5⟩
Article dans une revue hal-01801484v1

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

D. Sean Froese , Martina Huemer , Terttu Suormala , Patricie Burda , David Coelho , et al.
Human Mutation, 2016, 37 (5), pp.427 - 438. ⟨10.1002/humu.22970⟩
Article dans une revue istex hal-01666815v1
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Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR

Shyue-Fang Battaglia-Hsu , Rose Ghemrawi , David Coelho , Natacha Dreumont , Pauline Mosca , et al.
Nucleic Acids Research, 2018, 46 (15), pp.7844-7857. ⟨10.1093/nar/gky634⟩
Article dans une revue hal-01844820v1

Vitamin B 12 Deficiency Dysregulates m6A mRNA Methylation of Genes Involved in Neurological Functions

Pauline Mosca , Aurélie Robert , Jean‐marc Alberto , Marie Meyer , Urbi Kundu , et al.
Molecular Nutrition and Food Research, 2021, 65 (17), pp.2100206. ⟨10.1002/mnfr.202100206⟩
Article dans une revue hal-03300551v1

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

Ziad Hassan , David Coelho , Carine Bossenmeyer-Pourié , Karim Matmat , Carole Arnold , et al.
Cells, 2023, 12 (9), pp.1267. ⟨10.3390/cells12091267⟩
Article dans une revue hal-04089824v1
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SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders

Rose Ghemrawi , Carole Arnold , Shyue-Fang Battaglia-Hsu , Grégory Pourié , Isabelle Trinh , et al.
Metabolism, 2019, 101 (7), pp.153992. ⟨10.1016/j.metabol.2019.153992⟩
Article dans une revue hal-02507780v1

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

Ma'Atem B Fofou-Caillierez , Nadir T Mrabet , Céline Chéry , Natacha Dreumont , Justine Flayac , et al.
Human Molecular Genetics, 2013, 22 (22), pp.4591-601. ⟨10.1093/hmg/ddt308⟩
Article dans une revue hal-00916700v1
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Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing

Charif Rashka , Sébastien Hergalant , Natacha Dreumont , Abderrahim Oussalah , Jean-Michel Camadro , et al.
Human Molecular Genetics, 2020, 29 (12), pp.1969-1985. ⟨10.1093/hmg/ddaa027⟩
Article dans une revue hal-03100129v1