Shunji Tomatsu

Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA

Abstract Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to progressive accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S) and resulting in systemic skeletal...