Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

Pompe disease (PD) is an autosomal recessive lysosomal storage disorder due to deficient activity of the acid alpha glucosidase enzyme (GAA). As a consequence of the enzymatic defect, undigested glycogen accumulates within lysosomes. Most patients affected by the late-onset (LO) phenotype carry in a...

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Publicat a:Mol Ther Methods Clin Dev
Autors principals: Buratti, Emanuele, Peruzzo, Paolo, Braga, Luca, Zanin, Irene, Stuani, Cristiana, Goina, Elisa, Romano, Maurizio, Giacca, Mauro, Dardis, Andrea
Format: Artigo
Idioma:Inglês
Publicat: American Society of Gene & Cell Therapy 2020
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7782201/
https://ncbi.nlm.nih.gov/pubmed/33426149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtm.2020.11.011
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