title: A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction.
abstract: We identified a new Y243S mutation in the X-linked E1 alpha-PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) concentrations, indicating that the defect could be due to decreased affinity of PDHc for TPP.
authors.affiliation: INSERM U530, Hĵpital Necker, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Benelli
authors.forename: F
authors.initials: F
authors.lastname: Fouque
authors.forename: I
authors.initials: I
authors.lastname: Redonnet-Vernhet
authors.forename: M
authors.initials: M
authors.lastname: Malgat
authors.forename: D
authors.initials: D
authors.lastname: Fontan
authors.forename: C
authors.initials: C
authors.lastname: Marsac
authors.forename: R
authors.initials: R
authors.lastname: Dey
mesh_terms: D015153:Blotting, Western; D002478:Cells, Cultured; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics* / Q000502:physiology*; D018807:Polymorphism, Single-Stranded Conformational; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000172:deficiency* / Q000235:genetics*; D013835:Thiamine Pyrophosphate / Q000378:metabolism*
chemical_list: D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit; D013835:Thiamine Pyrophosphate