Associated Papers
Structural and biochemical mechanism of short-chain enoyl-CoA hydratase (ECHS1) substrate recognition.
Su G et al.
Communications Biology, 2025
Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.
Wu J et al.
Molecular Genetics & Genomic Medicine, 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
Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency.
Eller MM et al.
Brain Communications, 2025
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency.
Eller MM et al.
Biorxiv : the Preprint Server for Biology, 2024
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Maalej M et al.
Metabolic Brain Disease, 2024
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y et al.
Journal of Medical Genetics, 2023
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
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.
Muntean C et al.
International Journal of Environmental Research and Public Health, 2022
Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M et al.
Molecular Genetics and Metabolism Reports, 2021
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N et al.
Scientific Reports, 2021
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings.
Sato-Shirai I et al.
Brain & Development, 2021
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.
Uesugi M et al.
Molecular Genetics and Metabolism Reports, 2020
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
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ronchi D et al.
Annals of Clinical and Translational Neurology, 2020
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
Shimura M et al.
Scientific Reports, 2019
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Carlston CM et al.
Jimd Reports, 2019
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
Uchino S et al.
Human Genome Variation, 2019
Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Sharpe AJ et al.
Cells, 2018
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2017
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
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD et al.
Jimd Reports, 2016
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Yamada K et al.
Journal of Medical Genetics, 2015
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Tetreault M et al.
Human Genetics, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack TB et al.
Annals of Clinical and Translational Neurology, 2015