Associated Papers
ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies.
Fu Q et al.
Orphanet Journal of Rare Diseases, 2025
Structural and biochemical mechanism of short-chain enoyl-CoA hydratase (ECHS1) substrate recognition.
Su G et al.
Communications Biology, 2025
Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency.
Mele S et al.
Journal of Inherited Metabolic Disease, 2025
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
Sun D et al.
Bmc Medical Genetics, 2020
Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report.
Wu M et al.
Bmc Neurology, 2020
Select a paper to view details