Phenylketonurie ( eine Stoffwechselstörung, welche zu Organschäden führt )
Ein Glucosylceremidsynthetase-I... soll auch zur Behandlung der Gaucher- Krankheit vom Typ 3, der Niemann-Pick-Krankheit vom Typ C und einer weiteren Stö- rung, der Spätform des Tay-Sachs-Syndroms, untersucht werden.
Forscher haben unlängst herausgefunden, dass das Protein Utrophin das Protein Dystrophin ersetzen kann, das bei der Duchenne-Muskeldystrophie eine Rolle spielt.
www.medicinesformankind.euThis involves intravenous infusions of alpha glucosidase, the enzyme missing in people with the disease.
A glucosylceremide synthetase inhibitor is also planned to be investigated in the treatment of type 3 Gaucher’s disease, Niemann-Pick type C and another disorder, late-onset Tay-Sachs disease.
Researchers recently found that the protein utrophin can substitute for dystrophin, the protein implicated in Duchenne muscular dystrophy, and this avenue is being explored further.
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