Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for ?-galactosidase
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00273645.pdf
Reference21 articles.
1. D'Azzo A, Hoogeveen A, Reuser AJJ, Robinson D Galjaard H (1982) Molecular defect in combined ?-galactosidase and neuraminidase in man. Proc Natl Acad Sci USA 79:4535?4539
2. Goldberg MF, Cotlier E, Fichenscher LG, Kenyon K, Enat R, Borowsky SA (1971) Macular cherry-red spot, corneal clouding, and ?-galactosidase deficiency. Clinical, biochemical and electron microscopic study of a new autosomal storage disease. Arch Intern Med 128:387?397
3. Hasilik A, Neufeld EF (1980) Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem 255:4937?4945
4. Hoogeveen A, D'Azzo A, Brossmer R, Galjaard H (1981) Correction of combined ?-galactosidase/neuraminidase deficiency in human fibroblasts. Biochem Biophys Res Commun 103:292?300
5. Hoogeveen AT, Verheijen FW, Galjaard H (1983) The relation between human lysosomal ?-galactosidase and its protective protein. J Biol Chem 258:12143?12146
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1. Angiokeratoma corporis diffusum Associated with Galactosialidosis;Dermatology;1998
2. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis [published erratum appears in Hum Mol Genet 1997 Jan;6(1):146];Human Molecular Genetics;1996-12-01
3. Nonimmune Hydrops fetalis with Galactosialidosis: Consequences for Family Planning;Fetal Diagnosis and Therapy;1996
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