Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders
Author:
Funder
National Research Foundation of Korea
Ministry of Science, ICT and Future Planning
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference18 articles.
1. The cell biology of lysosomal storage disorders;Futerman;Nat. Rev. Mol. Cell. Biol.,2004
2. Lysosomal multienzyme complex: pros and cons of working together;Bonten;Cell. Mol. Life Sci.,2014
3. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein;Callahan;Biochim. Biophys. Acta,1999
4. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects;Brunetti-Pierri;Mol. Genet. Metab.,2008
5. Crystal structure of human beta-galactosidase: structural basis of Gm1 gangliosidosis and Morquio B diseases;Ohto;J. Biol. Chem.,2012
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