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- W2016982721 abstract "Lysosomal enzymes catalyze the degradation of macromolecules in the cell. In humans, a deficiency of a single lysosomal enzyme leads to a metabolic defect known as a lysosomal storage disease. Over fifty lysosomal storage diseases are known and have a collective incidence of approximately 1 in 7700 live births. Mucopolysaccharidosis IV A (also known as MPS IV A and Morquio A) is a lysosomal storage disease caused by a deficiency in the human lysosomal enzyme galactosamine-6-sulfatase (GALNS, also known as N-acetylgalactosamine-6-sulfatase and GalN6S; E.C. 3.1.6.4). To elucidate the molecular mechanism of this disease, we determined the three-dimensional structure of human GALNS, by x-ray crystallography at 2.2 Å resolution. Enzymatic assays on the insect cell-expressed human GALNS indicate activity against synthetic substrates and inhibition by both substrate and product. Mapping 120 MPS IV A missense mutations onto the structure illustrates that a majority of mutations affect the hydrophobic core of the structure, indicating that most MPS IV A cases result from misfolding of GALNS. Comparison of the structure of GALNS to other human sulfatases shows a wide variety of active site geometries in the family, but strict conservation of the catalytic machinery. Overall, the structure and the known mutations establish the molecular basis for MPS IV A and for the larger MPS family of diseases." @default.
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- W2016982721 date "2013-01-01" @default.
- W2016982721 modified "2023-09-30" @default.
- W2016982721 title "Crystal Structure of N-Acetylgalactosamine-6-Sulfatase: The Molecular Basis for Mucopolysaccharidosis Iva" @default.
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- W2016982721 doi "https://doi.org/10.1016/j.bpj.2012.11.3143" @default.
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