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  1. Article

    Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”

    We constructed structural models of the catalytic domain and the surrounding region of human wild-type acid α-glucosidase and the enzyme with amino acid substitutions by means of homology modeling, and examine...

    Youichi Tajima, Fumiko Matsuzawa, Sei-ichi Aikawa… in Journal of Human Genetics (2007)

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    Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for β-galactosidase

    Biosynthesis and processing of the protective protein for β-galactosidase in normal and galactosialidosis fibroblasts were investigated using specific antiserum preparations. A 45-kd precursor was processed to...

    Eiji Nanba, Akihiko Tsuji, Kiyoshi Omura, Yoshiyuki Suzuki in Human Genetics (1988)