A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction

Journal of Inherited Metabolic Disease

Volumn 25, Issue 4, 2002, Pages 325-327

  Benelli, C ^a   Fouque, F ^a   Redonnet Vernhet, I ^b   Malgat, M ^d   Fontan, D ^b   Marsac, C ^c   Dey, R ^c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL PELLEGRIN   (France)

^c CNRS   (France)

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COCARBOXYLASE; PYRUVATE DEHYDROGENASE; THIAMINE;

ARTICLE; BINDING AFFINITY; CASE REPORT; CHILD; CONCENTRATION (PARAMETERS); ENZYME ACTIVITY; ENZYME SUBUNIT; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN CELL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; X CHROMOSOME LINKAGE;

BLOTTING, WESTERN; CELLS, CULTURED; FIBROBLASTS; HUMANS; INFANT; MALE; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRUVATE DEHYDROGENASE (LIPOAMIDE); THIAMINE PYROPHOSPHATE;

EID: 0036689372     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1016570828778     Document Type: Article

References (4)

1. Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene
2. Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
3. Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency
4. Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients