期刊名称：Journal of Nutritional Science and Vitaminology
印刷版ISSN：0301-4800
电子版ISSN：1881-7742
出版年度：1992
卷号：38
期号：Special
页码：585-588
DOI：10.3177/jnsv.38.Special_585
出版社：Center for Academic Publications Japan
摘要：We studied a PDH deficient patient who is clinically responsive to thiamine. High Km and low Vmax values for the TPP were identified in the patient's cultured cells. Immunoblot analysis detected trace amount of mutant Ela polypeptide which was 3.5 KD larger than normal in size. Fournucleotide deletion in the Ela gene causes a reading frame shift, producing an abnormal polypeptide with additional 31 amino acids at C-teminus of the E1α subunit. The tryptophan (codon 383) and lysine (385) residues near the C-terminus might play a crucial role in the binding of TPP to the E1.
