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

Abstract excerpt

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 spectrum of clinical manifestations primarily affecting the osteoarticular system. Several studies have shown that, in 10%-15% of...

Topics

• Humans
• Chondroitinsulfatases
• Exons
• RNA Splicing
• Mutation
• Mucopolysaccharidosis IV
• Computational Biology