Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction [PDF]
Molecular MedicineBackground Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder.
Igor Bychkov +2 more
doaj +5 more sources
Discover Oncology, 2023 Nasopharyngeal carcinoma (NPC) is a commonly diagnosed malignancy in southern China and southeast Asia. Previous studies have identified galactosamine-(N-acetyl)-6-sulfatase (GALNS) as a potential biomarker for multiple cancers.
Zeng Xianhai
exaly +3 more sources
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A [PDF]
Molecular Genetics and Metabolism Reports, 2022 Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and ...
Curtis Rogers +2 more
exaly +4 more sources
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]
BMC Medical Genetics, 2018 Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Anna Caciotti +2 more
exaly +4 more sources
Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain [PDF]
HeliyonMucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera +10 more
doaj +5 more sources
Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA [PDF]
Current Issues in Molecular BiologyMucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions.
Betul Celik +4 more
doaj +2 more sources
Stem Cell Research, 2019 Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner.
Rong Li +6 more
doaj +2 more sources
Clinical significance and in vitro biological function of GALNS protein in hepatocellular carcinoma
陆军军医大学学报, 2022 Objective To investigate the clinical significance and in vitro biological function of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in hepatocellular carcinoma (HCC).
LIU Zeyu, LUO Yuandeng, LI Xun
doaj +2 more sources
In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model [PDF]
Molecular Therapy: Methods & Clinical DevelopmentMucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik +5 more
doaj +2 more sources
Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA [PDF]
Current Issues in Molecular BiologyMucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which leads to the accumulation of chondroitin-6-sulfate and ...
Shaukat A. Khan +5 more
doaj +2 more sources