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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: sequeira jm. Nucleic Acids Res. 2018 Sep 6;46(15):7844-7857. doi: 10.1093/nar/gky634. Nucleic Acids Res. 2018. PMID: 30016500 Free PMC article.
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS. Quadros EV, et al. Among authors: sequeira jm. Hum Mutat. 2010 Aug;31(8):924-9. doi: 10.1002/humu.21297. Hum Mutat. 2010. PMID: 20524213 Free PMC article.
64 results