grant

B12 Trafficking and Inherited Defects

Organization UNIVERSITY OF MICHIGAN AT ANN ARBORLocation ANN ARBOR, UNITED STATESPosted 1 Feb 1998Deadline 31 Jan 2028
NIHUS FederalResearch GrantFY20265'-deoxyadenosylcobalaminAddressAdoCblAnabolismAntimetabolitesArakawa syndrome 2BindingCBLCBL geneCBL2CarbonCas-Br-M (Murine) Ecotropic Retroviral Transforming SequenceCationsChaperoneChemicalsChemistryCholesterolClassificationClientClinical DataClinical geneticsCoACobalaminCobaltCoenzyme ACollaborationsComplementComplement ProteinsComplexCrystallographiesCrystallographyCyanocobalaminCytoplasmD-GlucoseDNA mutationDefectDextroseDiseaseDisorderDisulfidesEnvironmentEnzyme GeneEnzymesG-ProteinsGTP PhosphohydrolasesGTP-Binding ProteinsGTP-Regulatory ProteinsGTPasesGene ClusterGeneralized GrowthGenesGenetic ChangeGenetic defectGenetic mutationGenetic studyGeographyGlucoseGrowthGuanine Nucleotide Coupling ProteinGuanine Nucleotide Regulatory ProteinsGuanosine Triphosphate PhosphohydrolasesGuanosinetriphosphatasesHandHereditaryHereditary DiseaseHomocystinuriaHumanInborn Genetic DiseasesInheritedInherited disorderIntermediary MetabolismKineticsLaboratoriesLifeLigandsLinkM tbM tuberculosisM. tbM. tuberculosisMacrophageMammaliaMammalsMedical GeneticsMercaptansMercapto CompoundsMetabolicMetabolic ProcessesMetabolismMethionineMethylmalonyl-CoA IsomeraseMethylmalonyl-CoA MutaseMicro Electron DiffractionMicroEdMitochondriaModern ManMolecularMolecular ChaperonesMolecular InteractionMutationMycobacterium tuberculosisNeighborhoodsNucleotidesNutrientOxidation-ReductionPathway interactionsPatientsPhagosomesPorphyrinsPositionPositioning AttributePostdocPostdoctoral FellowProcessPropionatesProteinsProteomeRedoxResearch AssociateRh elementRhodiumRoleScientistSingle Crystal DiffractionSiteSourceStressStructural BiologistStructureStudentsSulfhydryl CompoundsSystemSystematicsTailTestingTetrapyrrolesThiolsTissue GrowthTrainingTransferaseTransferase GeneVIT B12Vitamin B 12Vitamin B12X Ray CrystallographiesX-Ray CrystallographyX-Ray Diffraction CrystallographyX-Ray/Neutron CrystallographyXray Crystallographyadenosylcobalaminbiosynthesischlorinclinical relevanceclinically relevantcobamamidecoenzyme B12cofactorcomplementationcystathionine synthase deficiencydesoxyadenosylcobalaminedibencozidedietarydisease causing variantdisease-causing alleledisease-causing mutationgenome mutationguanosinetriphosphatasehandshereditary disorderheritable disorderhuman tissueinborn errorinherited diseasesinherited genetic diseaseinherited genetic disorderinsightinstrumentmethionine synthase deficiencymethylmalonic acidemiamethylmalonic aciduriamethylmalonyl coA mutase deficiencymitochondrialmtbnovelontogenyoxidationoxidation reduction reactionpathogenic allelepathogenic variantpathwaypost-docpost-doctoralpost-doctoral traineerepairrepairedresearch associatessocial rolestemsulfhydryl grouptetrahydrofolate-methyltransferase deficiency syndrometraffickingvitamin B12 coenzyme
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Description preview

Vitamin B12 (or cobalamin) supports just two enzymes in the human proteome, but its absence is incompatible
with life. This high value dietary commodity is escorted by an elaborate system of chaperones to its two client

enzymes: methionine synthase (MS) in the cytoplasm and methylmalonyl-CoA mutase (MCM) in the

mitochondrion. Clues to the…

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B12 Trafficking and Inherited Defects — UNIVERSITY OF MICHIGAN AT ANN ARBOR | UNITED STATES | Feb 1998 | Dev Procure