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Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR.
Battaglia-Hsu SF, Ghemrawi R, Coelho D, Dreumont N, Mosca P, Hergalant S, Gauchotte G, Sequeira JM, Ndiongue M, Houlgatte R, Alberto JM, Umoret R, Robert A, Paoli J, Jung M, Quadros EV, Guéant JL. Battaglia-Hsu SF, et al. Among authors: coelho d. Nucleic Acids Res. 2018 Sep 6;46(15):7844-7857. doi: 10.1093/nar/gky634. Nucleic Acids Res. 2018. PMID: 30016500 Free PMC article.
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
Fofou-Caillierez MB, Mrabet NT, Chéry C, Dreumont N, Flayac J, Pupavac M, Paoli J, Alberto JM, Coelho D, Camadro JM, Feillet F, Watkins D, Fowler B, Rosenblatt DS, Guéant JL. Fofou-Caillierez MB, et al. Among authors: coelho d. Hum Mol Genet. 2013 Nov 15;22(22):4591-601. doi: 10.1093/hmg/ddt308. Epub 2013 Jul 3. Hum Mol Genet. 2013. PMID: 23825108
[Vitamin B12 and related genetic disorders].
Guéant JL, Coelho D, Nicolas JP. Guéant JL, et al. Among authors: coelho d. Bull Acad Natl Med. 2014 Jun;198(6):1141-56. Bull Acad Natl Med. 2014. PMID: 26983191 French.
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: coelho d. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: coelho d. Nat Commun. 2018 Feb 2;9(1):554. doi: 10.1038/s41467-018-03054-w. Nat Commun. 2018. PMID: 29396438 Free PMC article.
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
Wiedemann A, Chery C, Coelho D, Flayac J, Gueguen N, Desquiret-Dumas V, Feillet F, Lavigne C, Neau JP, Fowler B, Baumgartner MR, Reynier P, Guéant JL, Oussalah A. Wiedemann A, et al. Among authors: coelho d. J Hum Genet. 2020 Jan;65(2):91-98. doi: 10.1038/s10038-019-0689-y. Epub 2019 Oct 23. J Hum Genet. 2020. PMID: 31645654 Review.
591 results