Lista de obras - D. Sean Froese - Dominio Público Uruguay

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

artículo científico publicado en 2018

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

artículo científico publicado en 2015

Characterization of functional domains of the cblD (MMADHC) gene product

scientific journal article

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

artículo científico publicado en 2017

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

artículo científico publicado en 2015

Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ

artículo científico publicado en 2014

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>

artículo científico publicado en 2022

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency

artículo científico publicado en 2014

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

artículo científico publicado en 2016

Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

artículo científico publicado en 2010

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

artículo científico publicado en 2019

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

artículo científico publicado en 2015

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

artículo científico publicado en 2016

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT

scientific journal article

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

artículo científico publicado en 2016

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

artículo científico publicado en 2016

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

artículo científico publicado en 2019

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria

artículo científico publicado en 2017

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

artículo científico publicado en 2018

Restricted role for methionine synthase reductase defined by subcellular localization.

artículo científico publicado en 2008

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

artículo científico publicado en 2015

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

artículo científico publicado en 2018

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

scientific journal article

The role of protein structural analysis in the next generation sequencing era.

artículo científico publicado en 2014

Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation

scientific article published on 28 January 2019

Lista de obras de D. Sean Froese

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Characterization of functional domains of the cblD (MMADHC) gene product

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Restricted role for methionine synthase reductase defined by subcellular localization.

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

The role of protein structural analysis in the next generation sequencing era.

Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation