Publications by authors named "Hitomi Nishihata"
Article Synopsis
- ECHS1 is an enzyme that helps metabolize branched-chain amino acids and fatty acids, and mutations can lead to mitochondrial diseases due to accumulated valine intermediates.
- Researchers created a high-throughput assay to test the function of variants of uncertain significance (VUS) in ECHS1, using knockout cells and genetic analysis of patients with mitochondrial diseases.
- The study identified new loss-of-function variants through VUS validation and multiomics analysis, enhancing the understanding and diagnosis of mitochondrial diseases.
