PhD ceremony: Ms. T.M. Geel, 14.45 uur, Academiegebouw, Broerstraat 5, Groningen
Thesis: Pompe disease: towards gene correction using targeted nucleases
Promotor(s): prof. M.G. Rots
Faculty: Medical Sciences
Pompe disease is an inherited metabolic disorder caused by a mutation in the gene encoding the enzyme acid-α-glucosidase (GAA). In this dissertation, novel strategies were investigated to improve the treatment of Pompe disease. The only currently available therapy (Enzyme Replacement Therapy) is hampered by several disadvantages such as inefficient uptake of the enzyme. We demonstrated that a known efficient DNA carrier (SAINT) could also be used to effectively deliver proteins, including lysosomal enzymes and restriction enzymes.
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