Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene. On reaching the endosomal-lysosomal compartment, the β-galactosidase protein associates with the protective protein/cathepsin A (PPCA) and neurami...

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Bibliographic Details
Main Authors: Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu
Format: Article
Language:English
Published: Elsevier 2007-10-01
Series:Journal of Lipid Research
Subjects:
β-galactosidase
heterologous expression
lysosomal multienzyme complex
Online Access:http://www.sciencedirect.com/science/article/pii/S002222752042471X

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http://www.sciencedirect.com/science/article/pii/S002222752042471X

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