Associated Papers
Pyruvate dehydrogenase complex component B: A Gene Associated with Cuproptosis and Encoding the Beta Subunit of Pyruvate Dehydrogenase Is Involved in the Oxidative Decarboxylation Reaction.
Liu R et al.
Dna and Cell Biology, 2025
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
Ducich NH et al.
Journal of Inherited Metabolic Disease, 2022
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A et al.
Molecular Genetics and Metabolism, 2011
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana E et al.
Journal of Inherited Metabolic Disease, 2009
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