Pompe disease: towards gene correction using targeted nucleases
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.
| Last modified: | 13 March 2020 01.16 a.m. |
More news
-
29 November 2023
UMCG opent nieuwe faciliteit voor microbioomonderzoek 
Vandaag opent het UMCG de Groningen Microbioom Hub: een nieuwe faciliteit met state-of-the-art technologie waarin alle UMCG-expertise op het gebied van microbioomonderzoek samenkomt. Dit zorgt voor unieke mogelijkheden in onderzoek en maakt nieuwe...
-
28 November 2023
Science: more exciting than showbiz
Science often seems very complicated. Most people probably don't really know what researchers do, and what it takes to make a breakthrough. That is why it is important to keep the general public informed of what is happening in science, says Iris...
-
13 November 2023
UMCG beantwoordt vragen patiënten met hulp van AI
Het UMCG zet kunstmatige intelligentie (artificial intelligence, afgekort AI) in om zorgverleners te helpen bij het beantwoorden van schriftelijke vragen van patiënten. Dit gebeurt in samenwerking met andere ziekenhuizen vanuit de EPIC Nederlandse...