Associated Papers
Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.
Hossain MA et al.
Brain & Development, 2016
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
Oheda Y et al.
Glycobiology, 2006
New mutations in two Dutch patients with early infantile galactosialidosis.
Groener J et al.
Molecular Genetics and Metabolism, 2003
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
Takiguchi K et al.
Journal of Human Genetics, 2000
Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.
Naganawa Y et al.
The Biochemical Journal, 1999
Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation).
Itoh K et al.
Biochemical and Biophysical Research Communications, 1998
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
Zhou XY et al.
Human Molecular Genetics, 1996
[Multifunctional protective protein and its genetic deficiency 'galactosialidosis'].
Sakuraba H et al.
Seikagaku. the Journal of Japanese Biochemical Society, 1993
Protective protein gene mutations in galactosialidosis.
Shimmoto M et al.
The Journal of Clinical Investigation, 1993
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