In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation.

@article{Ikonen1991InVM,
  title={In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation.},
  author={Elina Ikonen and N E Enomaa and Ismo Ulmanen and L. Peltonen},
  journal={Genomics},
  year={1991},
  volume={11 1},
  pages={206-11}
}
Aspartylglucosaminuria (AGU) is a lysosomal storage disease resulting in severe mental retardation. We have recently reported that mutations in the aspartylglucosaminidase (AGA) locus are responsible for this disease. About 90% of reported AGU cases are found in Finland, and we have shown that the vast majority (98%) of AGU alleles in this isolated population contain two point mutations located 5 bp apart. We expressed these Arg161----Gln and Cys163----Ser mutations separately in vitro and… CONTINUE READING