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Article

Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer.

Molecular genetics and metabolism - 1 Aug 2003

Westover Jonna B, Goodman Stephen I, Frerman Frank E

Abstract excerpt

Inherited defects in glutaryl-CoA dehydrogenase cause the neurometabolic disease, glutaric acidemia type I. Five of over 80 mutations that have been identified are located in a carboxyl-terminal domain. The five mutations were generated by site directed mutagenesis and expressed in Escherichia coli. The mutant dehydrogenases were purified and characterized by circular dichroism and fluorescence spectroscopy,...

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Identifiers

PMID: 12948740
DOI: 10.1016/s1096-7192(03)00109-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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