Michael J. Przybilla

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Mucopolysaccharidosis type I (MPS I) is a lysosomal disease caused by α-l-iduronidase (IDUA) deficiency and accumulation of glycosaminoglycans (GAG). Lentiviral vector encoding correct IDUA cDNA could be used for treating MPS I. To optimize the lentiviral vector design, 9 constructs were designed by combinations of various promoters, enhancers, and codon(More)
Mucopolysaccharidosis type I (MPS I) is due to deficiency of α-l-iduronidase (IDUA) and subsequent storage of undegraded glycosaminoglycans (GAG). The severe form of the disease, known as Hurler syndrome, is characterized by mental retardation and neurodegeneration of unknown etiology. To identify potential biomarkers and unveil the neuropathology mechanism(More)
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease caused by α-Liduronidase (IDUA) deficiency and subsequent accumulation of glycosaminoglycan (GAG) heparan sulfate and dermatan sulfate. Lentiviral vector encoding correct IDUA sequence could be used for gene therapy treating MPS I disease. Previous study in our lab showed that intravenous injection(More)
BACKGROUND Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To achieve optimal clinical outcomes, early and proper treatment is essential, which requires early diagnosis and phenotype severity prediction.(More)
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