Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

@article{Cardone2008AbnormalMR,
  title={Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts},
  author={Monica Cardone and C. D. N. Porto and Antonietta Tarallo and Mariella Vicinanza and B Rossi and Elena V. Polishchuk and Francesca Donaudy and Generoso Andria and Maria Antonietta De Matteis and Giancarlo Parenti},
  journal={PathoGenetics},
  year={2008},
  volume={1},
  pages={6 - 6}
}
BACKGROUND Pompe disease (PD) is a metabolic myopathy caused by alpha-glucosidase (GAA) deficiency and characterized by generalized glycogen storage. Heterogeneous GAA gene mutations result in wide phenotypic variability, ranging from the severe classic infantile presentation to the milder intermediate and late-onset forms. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA), the only treatment available for PD, intriguingly shows variable efficacy in different PD patients. To… CONTINUE READING
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