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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Main Authors: Erik van der Wal (Author), Atze J. Bergsma (Author), Tom J.M. van Gestel (Author), Stijn L.M. in 't Groen (Author), Holm Zaehres (Author), Marcos J. Araúzo-Bravo (Author), Hans R. Schöler (Author), Ans T. van der Ploeg (Author), W.W.M. Pim Pijnappel (Author)
Format: Book
Published: Elsevier, 2017-06-01T00:00:00Z.
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3rd Floor Main Library

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