Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism
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DOI: 10.1002/jimd.12560
Abstract: Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme activity affects disease onset and severity, although other factors, including dysregulation of cytoplasmic… read more here.
Keywords: lysosomal glycogen; disease; cytoplasmic glycogen; pompe disease ... See more keywords
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Molecular Medicine"
DOI: 10.1007/s00109-017-1505-9
Abstract: Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles. Mannose-6-phosphate receptor-mediated enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) targets the enzyme to lysosomes… read more here.
Keywords: antibody; glycogen; pompe disease; gaa ... See more keywords