Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction

Abstract Background Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder. GALNS encodes the enzyme N-acetylgalactosamine-6-sulfatase, whose deficiency causes accumulation of glycosaminoglycans and leads to a broad spectru...

Full description

Saved in:
Bibliographic Details
Main Authors: Igor Bychkov, Elza Shchukina, Ekaterina Zakharova
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Molecular Medicine
Subjects:
Antisense oligonucleotides
Antisense therapy
Gene therapy
Cryptic exons
Poison exons
Aberrant splicing
Online Access:https://doi.org/10.1186/s10020-025-01243-0
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s10020-025-01243-0

Similar Items