Article
The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.
PloS one - 1 Jan 2014
Jank Johanna M, Maier Esther M, Reiβ Dunja D, Haslbeck Martin, Kemter Kristina F, Truger Marietta S, Sommerhoff Christian P, Ferdinandusse Sacha, Wanders Ronald J, Gersting Søren W, Muntau Ania C
Abstract excerpt
The implementation of expanded newborn screening programs reduced mortality and morbidity in medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by mutations in the ACADM gene. However, the disease is still potentially fatal. Missense induced MCADD is a protein misfolding disease with a molecular loss-of-function phenotype. Here we established a comprehensive experimental setup to analyze the structural...
Topics
- Acyl-CoA Dehydrogenase
- Animals
- COS Cells
- Chlorocebus aethiops
- Circular Dichroism
- Enzyme Activation
- Flavin-Adenine Dinucleotide
- Fluorescence
- Hot Temperature
- Humans