TY - JOUR AU - Cardone, Monica AU - Porto, Caterina AU - Tarallo, Antonietta AU - Vicinanza, Mariella AU - Rossi, Barbara AU - Polishchuk, Elena AU - Donaudy, Francesca AU - Andria, Generoso AU - De Matteis, Maria Antonietta AU - Parenti, Giancarlo PY - 2008 DA - 2008/12/01 TI - Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts JO - PathoGenetics SP - 6 VL - 1 IS - 1 AB - Pompe disease (PD) is a metabolic myopathy caused by α-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 investigate the mechanisms underlying the variable response to ERT, we studied cell morphology of PD fibroblasts, the distribution and trafficking of the cation-independent mannose-6-phosphate receptor (CI-MPR) that mediates rhGAA uptake, and rhGAA uptake itself. SN - 1755-8417 UR - https://doi.org/10.1186/1755-8417-1-6 DO - 10.1186/1755-8417-1-6 ID - Cardone2008 ER -