Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant
Tài liệu tham khảo
Tropak, 2008, Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on β-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry, ChemBioChem, 9, 2650, 10.1002/cbic.200800304
Hruska, 2008, Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA), Hum. Mutat., 29, 567, 10.1002/humu.20676
Sawkar, 2006, Chemical chaperones and permissive temperatures alter the cellular localization of Gaucher disease associated glucocerebrosidase variants, ACS Chem. Biol., 1, 235, 10.1021/cb600187q
Nagy, 2004, Destabilizing mutations promote membrane protein misfolding, Biochemistry, 43, 19, 10.1021/bi035918s
Schmitz, 2005, Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease, Int. J. Biochem. Cell Biol., 37, 2310, 10.1016/j.biocel.2005.05.008
Sawkar, 2002, Chemical chaperones increase the cellular activity of N370S β-glucosidase: a therapeutic strategy for Gaucher disease, Proc. Natl. Acad. Sci. U. S. A., 99, 15428, 10.1073/pnas.192582899
Sawkar, 2005, Gaucher disease associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles, Chem. Biol., 12, 1235, 10.1016/j.chembiol.2005.09.007
Fan, 2008, A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity, J. Clin. Invest., 118, 2686
Grace, 1990, Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations, J. Biol. Chem., 25, 6827, 10.1016/S0021-9258(19)39223-3
Grace, 1994, Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression, J. Biol. Chem., 269, 2283, 10.1016/S0021-9258(17)42166-1
Yu, 2007, Pharmacologic chaperoning as a strategy to treat Gaucher disease, FEBS J., 274, 4944, 10.1111/j.1742-4658.2007.06042.x
Steet, 2006, The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms, Proc. Natl. Acad. Sci. U. S. A., 103, 13813, 10.1073/pnas.0605928103
Maegawa, 2009, Identification and characterization of ambroxol as an enzyme-enhancement agent for Gaucher disease, J. Biol. Chem., 284, 23502, 10.1074/jbc.M109.012393
Wei, 2011, X-Ray and biochemical analysis of N370S mutant human acid β-glucosidase, J. Biol. Chem., 286, 299, 10.1074/jbc.M110.150433
Liua, 2010, Endoplasmic reticulum protein quality control and its relationship to environmental stress responses in plants, Plant Cell, 22, 2930, 10.1105/tpc.110.078154
Denecke, 1990, Protein secretion in plant cells can occur via a default pathway, Plant Cell, 2, 51, 10.1105/tpc.2.1.51
Chakrabarty, 2007, pSITE vectors for stable integration or transient expression of autofluorescent protein fusions in plants: probing Nicotiana benthamiana-virus interactions, Mol. Plant Microbe Interact., 20, 740, 10.1094/MPMI-20-7-0740
Mayo, 2006, Genetic transformation of tobacco NT1 cells with Agrobacterium tumefaciens, Nat. Protoc., 1, 1105, 10.1038/nprot.2006.176
Fu, 2009, Production and characterization of soluble human lysosomal enzyme α-iduronidase with high activity from culture media of transgenic tobacco BY-2 cells, Plant Sci., 177, 668, 10.1016/j.plantsci.2009.08.016
Sambrook, 1989, Molecular cloning
Yeung, 2009, A solution for stripping antibodies from polyvinylidene fluoride immunoblots for multiple reprobing, Anal. Biochem., 389, 89, 10.1016/j.ab.2009.03.017
Lee, 2008, Vectors for multi-color bimolecular fluorescence complementation to investigate protein-protein interactions in living plant cells, Plant Methods, 4, 24, 10.1186/1746-4811-4-24
Liou, 2009, Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease, Mol. Genet. Metab., 97, 65, 10.1016/j.ymgme.2009.01.006
Bergmann, 1989, Posttranslational processing of human lysosomal beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts, Am. J. Hum. Genet., 44, 741
Hein, 1991, Evaluation of immunoglobulins from plant cells, Biotechnol. Prog., 7, 455, 10.1021/bp00011a011
Hiatt, 1989, Production of antibodies in transgenic plants, Nature, 342, 76, 10.1038/342076a0
Tse, 2004, Identification of multivesicular bodies as prevacuolar compartments in Nicotiana tabacum BY-2 cells, Plant Cell, 16, 672, 10.1105/tpc.019703
Ohashi, 1991, Characterization of human glucocerebrosidase from different mutant alleles, J. Biol. Chem., 266, 3661, 10.1016/S0021-9258(19)67845-2