Stabilising normal and mis-sense variant α-glucosidase

Author:

Kakavanos Revecca,Hopwood John J.,Lang Debbie,Meikle Peter J.,Brooks Doug A.

Publisher

Wiley

Subject

Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics

Reference29 articles.

1. Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease;Brown;Biochemistry,1970

2. α-Glucosidase deficiency in generalised glycogen-storage disease (Pompe’s disease);Hers;Biochem. J.,1963

3. R. Hirschhorn A.J.J. Reuser Glycogen storage disease type II; acid α-glucosidase (acid maltase) deficiency C.R. Scriver A.L. Beaudet D. Valle W.S. Sly The Metabolic and Molecular Bases of Inherited Diseases 3 2001 McGraw-Hill New York 3389 3420

4. Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II;Hermans;Hum. Mutat.,2004

5. Biochemical, immunological, and cell genetic studies in glycogenesis type II;Reuser;Am. J. Hum. Genet.,1978

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