Catherine Kochersperger

Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers

Bianca Seminotti, Guilhian Leipnitz, Anuradha Karunanidhi et al. · Human Molecular Genetics · 2018 · 68 citations · Full text

Life Sciences, Biochemistry, Cell Biology +17

An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein

Yuxun Zhang, Al‐Walid Mohsen, Catherine Kochersperger et al. · Analytical Biochemistry · 2019 · 21 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +8

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model

Xuejun Zhao, Al‐Walid Mohsen, Stephanie J. Mihalik et al. · Molecular Genetics and Metabolism · 2022 · 16 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +9

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Olivia D’Annibale, Erik Koppes, Ahmad Alodaib et al. · Molecular Genetics and Metabolism · 2021 · 10 citations · Full text

Life Sciences, Biochemistry, Genetics +17