Article
Deletion of the 3'-untranslated region of aspartylglucosaminidase mRNA results in a lysosomal accumulation disease.
The Journal of biological chemistry - 5 May 1992
Ikonen E, Ulmanen I, Peltonen L
Abstract excerpt
Aspartylglucosaminuria (AGU) is a lysosomal storage disease due to mutations in the aspartylglucosaminidase (AGA) gene. The deficient enzyme activity in patients' cells blocks one of the final steps in the degradation of N-linked glycoproteins. All the AGU mutations identified so far affect the coding region of the AGA gene. Here we report a homozygous 876-base pair deletion, which removes the 3'-noncoding area...
Topics
- Aspartylglucosylaminase
- Base Sequence
- Blotting, Southern
- Blotting, Western
- Cells, Cultured
- Chromosome Deletion
- DNA
- Homozygote
- Humans
- Introns
- Lysosomal Storage Diseases