D. Sean Froese

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

D. Sean Froese, Martina Huemer, Terttu Suormala et al. · Human Mutation · 2016 · 120 citations

Residual Enzyme Activity, Mendelian Disorder, Genetic Disorder +13

Structures of the Human GTPase MMAA and Vitamin B12-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

D. Sean Froese, Grazyna Kochan, J.R.C. Muniz et al. · Journal of Biological Chemistry · 2010 · 113 citations · Full text

Molecular Regulation, Human Gtpase Mmaa, Molecular Biology +18

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

D. Sean Froese, Amit Michaeli, Thomas J. McCorvie et al. · Human Molecular Genetics · 2015 · 88 citations · Full text

Glycogen Biosynthesis, Glycobiology, Glycogen Polymer +18

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

Jean‐Louis Guéant, Céline Chéry, Abderrahim Oussalah et al. · Nature Communications · 2017 · 84 citations · Full text

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

D. Sean Froese, J. Kopec, Elzbieta Rembeza et al. · Nature Communications · 2018 · 83 citations · Full text