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
Identification of galactosamine-(N-acetyl)-6-sulfatase (GALNS) as a novel therapeutic target in progression of nasopharyngeal carcinoma [PDF]
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.
Jin Zhang +7 more
doaj +2 more sources
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
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Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice [PDF]
Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in the GALNS gene that leads to the lysosomal accumulation of keratan sulfate (KS) and chondroitin 6-sulfate, causing skeletal dysplasia and cardiopulmonary complications.
Andrés Felipe Leal +5 more
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
Adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice [PDF]
Molecular Therapy: Nucleic AcidsMucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs).
Estera Rintz +6 more
doaj +2 more sources
Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase [PDF]
MoleculesMorquio A syndrome is a lysosomal disorder caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine 6-sulfatase (GALNS, EC 3.1.6.4).
Maria Giulia Davighi +8 more
doaj +2 more sources
Delayed diagnosis of mild mucopolysaccharidosis type IVA [PDF]
BMC Medical GenomicsBackground Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal ...
Mengni Yi, Pinquan Shen, Huiwen Zhang
doaj +2 more sources
Evaluation of AAV vectors with tissue-specific or ubiquitous promoters in a mouse model of mucopolysaccharidosis type IVA [PDF]
Molecular Therapy: Methods & Clinical DevelopmentMucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS), leading to the accumulation of keratan sulfate and chondroitin-6-sulfate and development of severe skeletal dysplasia.
Shaukat A. Khan +4 more
doaj +2 more sources