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ProteomicsLoss of Mitochondrial Fatty Acid β-Oxidation Protein Short Chain Enoyl-CoA Hydratase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Short chain enoyl-CoA hydratase 1 (ECHS1) is involved in the second step of mitochondrial fatty acid β-oxidation (FAO), catalysing the hydration of short chain enoyl-CoA esters to short chain 3-hyroxyl-CoA esters. Genetic deficiency in ECHS1 (ECHS1D) is associated with a specific subset of Leigh Syn...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2023-05-10 | PXD032761 | Pride
Mitochondria Oxphos Mitochondrial disease Echs1 deficiency Short chain enoyl-coa hydratase Fatty acid oxidation 
GenomicsLoss of Mitochondrial Fatty Acid Beta-Oxidation Protein Short Chain Enoyl-CoA Hydratase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Loss of Mitochondrial Fatty Acid Beta-Oxidation Protein Short Chain Enoyl-CoA Hydratase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
PRJNA823744 | ENA
TranscriptomicsLoss of Mitochondrial Fatty Acid Beta-Oxidation Protein Short Chain Enoyl-CoA Hydratase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Short chain enoyl-CoA hydratase 1 (ECHS1) is involved in the second step of mitochondrial fatty acid β-oxidation (FAO), catalysing the hydration of short chain enoyl-CoA esters to short chain 3-hyroxyl-CoA esters. Genetic deficiency in ECHS1 (ECHS1D) is associated with a specific subset of Leigh Syn...
ORGANISM(S): Homo sapiens 
2022-04-10 | GSE200252 | GEO
UnknownStructural and biochemical mechanism of short-chain enoyl-CoA hydratase (ECHS1) substrate recognition.
Not available
S-EPMC12003839 | biostudies-literature
UnknownNicotinamide Mononucleotide Alleviates Cardiomyopathy Phenotypes Caused by Short-Chain Enoyl-Coa Hydratase 1 Deficiency.
Not available
S-EPMC9079797 | biostudies-literature
UnknownExtrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Not available
S-EPMC6323015 | biostudies-literature
UnknownPathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.
Not available
S-EPMC8871535 | biostudies-literature
UnknownLoss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.
Not available
S-EPMC10087869 | biostudies-literature
UnknownClinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Not available
S-EPMC5947294 | biostudies-literature
UnknownShort-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.
Not available
S-EPMC7606867 | biostudies-literature
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