Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA

Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA

Abstract Background Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid alpha glucosidase (GAA) enzyme due to mutations in the GAA gene. As a result, undigested glycogen accumulates within lysosomes causing their dysfunction. From a clinic...

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Bibliographic Details
Main Authors: Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Molecular Medicine
Subjects:
Pompe disease
Glycogenosis type II
GAA
Splicing
U1
c.-32-13T>G
Online Access:https://doi.org/10.1186/s10020-025-01090-z
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