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A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
The researchers found that deletion of the cellular enzyme called the "RNA lariat debranching enzyme," rescued the at-risk cells.
Commonwealth Scientific & Industrial Research Organisation (Campbell, Australia), The Austrailian National University (Acton, Australia) and Biogemma SAS (Paris, France) have patente a nucleic acid sequence encoding an enzyme of the starch biosynthetic pathway in a cereal plant, wherein the enzyme is selected from the group consisting of starch branching enzyme I, starch branching enzyme II, starch soluble synthase I, and debranching enzyme, with the provisio that the enzyme is not soluble starch synthase I of rice, or starch branching enzyme I of rice or maize.
However, we are still compelled to find something to interfere with the debranching enzyme nagalase.