Article
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.
American journal of human genetics - 1 Sept 1991
Indo Y, Glassberg R, Yokota I, Tanaka K
Abstract excerpt
In our previous study of eight glutaric acidemia type II (GAII) fibroblast lines by using [35S]methionine labeling and immunoprecipitation, three of them had a defect in the synthesis of the alpha-subunit of electron transfer flavoprotein (alpha-ETF) (Ikeda et al. 1986). In one of them (YH1313) the labeling of the mature alpha-ETF was barely detectable, while that of the precursor (p) was stronger. In another...
Topics
- Acidosis
- Base Sequence
- Blotting, Northern
- Cell Line
- Electron-Transferring Flavoproteins
- Flavoproteins
- Genes, Recessive
- Glutarates
- Glycine
- Humans