about
Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβCharacterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatmentInsights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsMolecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTStructural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide designCharacterization of functional domains of the cblD (MMADHC) gene productFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesThe role of protein structural analysis in the next generation sequencing era.Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.Restricted role for methionine synthase reductase defined by subcellular localization.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.Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.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.Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryVitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulationIn-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria
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description
researcher ORCID ID = 0000-0003-1557-3517
@en
name
D. Sean Froese
@ast
D. Sean Froese
@en
D. Sean Froese
@es
D. Sean Froese
@nl
D. Sean Froese
@sq
type
label
D. Sean Froese
@ast
D. Sean Froese
@en
D. Sean Froese
@es
D. Sean Froese
@nl
D. Sean Froese
@sq
prefLabel
D. Sean Froese
@ast
D. Sean Froese
@en
D. Sean Froese
@es
D. Sean Froese
@nl
D. Sean Froese
@sq
P27
P31
P496
0000-0003-1557-3517