Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.2.1.20 (
alpha-glucosidase
)
4,237
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Early events in the biosynthesis of
alpha-glucosidase
(
EC 3.2.1.20
) were studied in a wheat-germ cell-free translation system, using control and mutant RNA. In vitro, the primary translation product of the
alpha-glucosidase
mRNA is a 100 kDa protein. When canine microsomal membranes are added to the translation system, the nascent
alpha-glucosidase
precursor is cotranslationally transported across the microsomal membranes, yielding a 110 kDa glycosylated form. This protein has the same electrophoretic characteristics as the
alpha-glucosidase
precursor observed after in vivo labeling of control fibroblasts. Inhibition of glycosylation in vivo by tunicamycin or deglycosylation of the in vivo synthesized
alpha-glucosidase
precursor by
glycopeptidase
F reveals a core protein similar in molecular mass to the primary translation product. Total RNA from a patient with the adult form of glycogenosis type II is not able to direct the synthesis of normal amounts of
alpha-glucosidase
in vitro. Northern blot analysis of the RNA, using cloned
alpha-glucosidase
cDNA sequences as a probe, demonstrates that in this patient the amount of the 3.4 kb
alpha-glucosidase
mRNA is highly reduced. The results indicate that the synthesis or stability of the mRNA is affected.
...
PMID:Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II. 331 2
