Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotyp...

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Bibliographic Details
Main Authors: Erik van der Wal, Atze J. Bergsma, Joon M. Pijnenburg, 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:
Pompe disease
U7 snRNA screen
antisense oligonucleotides
exon inclusion
pre-mRNA splicing
metabolic disorder
lysosomal storage disorder
IVS1
lysosomal storage disease
acid α-glucosidase
GAA
skeletal muscle
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253117301397

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http://www.sciencedirect.com/science/article/pii/S2162253117301397

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