Seraina Lutz

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 · 86 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

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

Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer et al. · Human Mutation · 2016 · 56 citations

Life Sciences, Genetics, Molecular Genetics +15

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

Victoria Fettelschoss, Patricie Burda, Corinne Sagné et al. · Journal of Biological Chemistry · 2017 · 37 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +10

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T&gt;C MTRR mutation corrects splicing and restores enzyme activity in patient cells

Bruno Palhais, Veronica S. Præstegaard, Rugivan Sabaratnam et al. · Nucleic Acids Research · 2015 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Protein destabilization and loss of protein‐protein interaction are fundamental mechanisms in <i>cblA</i> ‐type methylmalonic aciduria

Tanja Plessl, Céline Bürer, Seraina Lutz et al. · Human Mutation · 2017 · 26 citations

Life Sciences, Biochemistry, Molecular Biology +15