Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

Abstract

G(M1) gangliosidosis and Morquio B are autosomal recessive lysosomal storage diseases associated with a neurodegenerative disorder or dwarfism and skeletal abnormalities, respectively. These diseases are caused by deficiencies in the lysosomal enzyme β-d-galactosidase (β-Gal), which lead to accumulations of the β-Gal substrates, G(M1) ganglioside, and… (More)
DOI: 10.1074/jbc.M111.293795

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