2024年12月24日 · ECHS1 (Enoyl-CoA Hydratase, Short Chain 1) is a Protein Coding gene. Diseases associated with ECHS1 include Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 …

2019年6月20日 · Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most …

2017年9月6日 · Herein, we report that enoyl-CoA hydratase-1 (ECHS1), the enzyme involved in the oxidation of fatty acids (FAs) and branched-chain amino acids (BCAAs), senses nutrients …

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is an inborn error of metabolism characterized by delayed psychomotor development, neurological degeneration, increased …

2025年3月8日 · ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation.

2024年8月5日 · The ECHS1 gene encodes short-chain enoyl-CoA hydratase (SCEH; EC 4.2.1.17), which catalyzes the second step in mitochondrial fatty acid beta-oxidation (summary …

This study aims to further describe the ECHS1 deficiency phenotype using medical history questionnaires and standardized tools assessing quality of life and adaptive skills.

2021年3月8日 · Qualitative real-time polymerase chain reaction (qRT-PCR) results show that Echs1 knockdown or crotonate (10 mmol/L) treatment for 48 hours leads to the …

2024年8月5日 · Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (ECHS1D) is an autosomal recessive inborn error of metabolism characterized by severely delayed …

2016年11月20日 · Clinical resource with information about ECHS1, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, and available tests. There are links to practice guidelines …