GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the most common variant for the childhood/adul...

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Bibliographic Details
Main Authors: Erik van der Wal, Atze J. Bergsma, Tom J.M. van Gestel, Stijn L.M. in ‘t Groen, Holm Zaehres, Marcos J. Araúzo-Bravo, Hans R. Schöler, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Format: Article
Language:English
Published: Elsevier 2017-06-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
myogenic progenitors
induced pluripotent stem cell
antisense oligonucleotide
Pompe disease
IVS1 mutation
skeletal muscle differentiation
pre-mRNA splicing
pseudo exon
exon inclusion
lysosomal storage disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253117301403

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