Associated Papers
Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.
Burgin H et al.
The Febs Journal, 2023
35962613 (PubMed )
Supplement: FEBS-290-225-s001.xlsx › S5-_Patient_genotypes
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
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
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ronchi D et al.
Annals of Clinical and Translational Neurology, 2020
32329585 (PubMed )
Supplement: ACN3-7-839-s001.pdf
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.
Pajares S et al.
Molecular Genetics and Metabolism Reports, 2020
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Carlston CM et al.
Jimd Reports, 2019
Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Sharpe AJ et al.
Cells, 2018
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
Nair P et al.
Metabolic Brain Disease, 2016
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease.
Nsiah-Sefaa A et al.
Bioscience Reports, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD et al.
Jimd Reports, 2016
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Peters H et al.
Brain : a Journal of Neurology, 2014
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