Article
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
The Biochemical journal - 1 Feb 1993
Hermans M M, de Graaff E, Kroos M A, Wisselaar H A, Willemsen R, Oostra B A, Reuser A J
Abstract excerpt
Glycogen-storage disease type II (GSDII) is caused by the deficiency of lysosomal alpha-glucosidase (acid maltase). This paper reports on the analysis of the mutant alleles in an American black patient with an adult form of GSDII (GM1935). The lysosomal alpha-glucosidase precursor of this patient...
Topics
- Adult
- Alleles
- Aspartic Acid
- Base Sequence
- Biological Transport
- Black People
- Cells, Cultured
- Codon
- DNA Mutational Analysis
- Glutamates
- Glutamic Acid
- Glycogen
- Glycogen Storage Disease Type II
- Humans