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Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

Merel Stok, Helen de Boer, Marshall W. Huston, Edwin H. Jacobs, Onno Roovers, Trudi P. Visser, Holger Jahr, Dirk J. Duncker, Elza D. van Deel, Arnold Reuser, Niek P. van Til, Gerard Wagemaker

2020Molecular Therapy — Methods & Clinical Development36 citationsDOIOpen Access PDF

Abstract

), the enzyme levels resulted in close to normalization of glycogen in heart, muscles, and brain, and in complete normalization of motor function. A large proportion of microglia in the brain was shown to be GAA positive. All astrocytes contained the enzyme, which is in line with mannose-6-phosphate receptor expression and the key role in glycogen storage and glucose metabolism. The lentiviral vector insertion site analysis confirmed no preference for integration near proto-oncogenes. This correction of murine Pompe disease warrants further development toward a cure of the human condition.

Topics & Concepts

Enzyme replacement therapyGlycogen storage disease type IIGenetic enhancementBiologyGlycogen storage diseaseStem cellDiseaseGlycogenCancer researchMedicineInternal medicineEndocrinologyGeneGeneticsLysosomal Storage Disorders ResearchBiochemical and Molecular ResearchAdenosine and Purinergic Signaling
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