about
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemiaMutations in ABCD4 cause a new inborn error of vitamin B12 metabolismGene identification for the cblD defect of vitamin B12 metabolism.Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiency.Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.Carbon ions-induced apoptosis in hematopoietic tumor cell lines.Involvement of TP53 in apoptosis induced in human lymphoblastoid cells by fast neutrons.Prevention of nitrogen mustard-induced apoptosis in normal and transformed lymphocytes by ebselen.Modulation of the antiproliferative activity of anticancer drugs in hematopoietic tumor cell lines by the poly(ADP-ribose) polymerase inhibitor 6(5H)-phenanthridinone.Perturbation by geraniol of cell membrane permeability and signal transduction pathways in human colon cancer cells.Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.Ex vivo determination of the effect of whole-body exposure to fast neutrons on murine spleen cell viability and apoptosisInherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuRMutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesisSIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disordersBrain Susceptibility to Methyl Donor Deficiency: From Fetal Programming to Aging Outcome in Rats[Vitamin B12 and related genetic disorders]
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description
researcher ORCID ID = 0000-0001-7010-5789
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wetenschapper
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name
David Coelho
@ast
David Coelho
@en
David Coelho
@es
David Coelho
@nl
type
label
David Coelho
@ast
David Coelho
@en
David Coelho
@es
David Coelho
@nl
prefLabel
David Coelho
@ast
David Coelho
@en
David Coelho
@es
David Coelho
@nl
P21
P31
P496
0000-0001-7010-5789