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

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Cardone, Monica, Porto, Caterina, Tarallo, Antonietta, Vicinanza, Mariella, Rossi, Barbara, Polishchuk, Elena, Donaudy, Francesca, Andria, Generoso, De Matteis, Maria Antonietta, Parenti, Giancarlo
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635360/
https://www.ncbi.nlm.nih.gov/pubmed/19046416
http://dx.doi.org/10.1186/1755-8417-1-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635360/
https://www.ncbi.nlm.nih.gov/pubmed/19046416
http://dx.doi.org/10.1186/1755-8417-1-6

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