Article
Investigating the Impact of Natural SNPs on hETF Conformational Dynamics and FAD Cofactor Alteration
2025-08-13
Abstract excerpt
<title>Abstract</title> <p>Human electron transfer flavoprotein (hETF) is a critical mitochondrial enzyme essential for fatty acid β-oxidation. Genetic variations, mainly single nucleotide polymorphisms (SNPs) in the electron transfer flavoprotein dehydrogenase (ETFDH) gene, can lead to multiple acyl-CoA dehydrogenase deficiency (MADD) and severe metabolic dysfunction. Many disease-associated missense mutations c...
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Identifiers and source
- Literature Corpus work
- 7fcae4fd-c778-5e89-9639-427ff7b8259f
- DOI
- 10.21203/rs.3.rs-7346934/v1
