Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease

International Journal of Biochemistry and Cell Biology

Volumn 54, Issue , 2014, Pages 245-254

  Serra Vinardell, Jenny ^a   Díaz, Lucía ^a,b   Guitiérrez De Terán, Hugo ^c   Sánchez Ollé, Gessamí ^a   Bujons, Jordi ^b   Michelakakis, Helen ^d   Mavridou, Irene ^d   Aerts, Johannes M F G ^e   Delgado, Antonio ^a,b   Grinberg, Daniel ^a   Vilageliu, Lluïsa ^a   Casas, Josefina ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTE OF ADVANCED CHEMISTRY OF CATALONIA IQAC CSIC   (Spain)

^c UPPSALA UNIVERSITY   (Sweden)

^d Institute of Child Health   (Greece)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Fibroblast; G202R mutation; Gaucher disease; Glucosylceramide; Pharmacological chaperone

Indexed keywords

ALPHA GLUCOSIDASE INHIBITOR; AMINOCYCLITOL; CHAPERONE; GLUCOSYLCERAMIDASE; ISOFAGOMINE; MIGLUSTAT; UNCLASSIFIED DRUG; ENZYME INHIBITOR; IMINOSUGAR; LIPID; SPHINGOLIPID; GLUCOSYLCERAMIDE; LD 125; LD 127; LD 153; LD 159; LD 166; LD 177; LD 25; LD 54; LD 72; SPHINGOSINE;

ARTICLE; BLOOD BRAIN BARRIER; CELL VIABILITY; CONTROLLED STUDY; CYTOTOXICITY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME MECHANISM; ENZYME REPLACEMENT; GAUCHER DISEASE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; LIPIDOMICS; MOLECULAR DYNAMICS; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SKIN FIBROBLAST; TIME OF FLIGHT MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; APOPTOSIS; CELL CULTURE; CHEMISTRY; CONFOCAL MICROSCOPY; DRUG EFFECTS; ENZYMOLOGY; FIBROBLAST; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; MASS SPECTROMETRY; METABOLISM; MUTATION; PATHOLOGY; PROTEIN CONFORMATION; PROTEIN FOLDING; SKIN; X RAY CRYSTALLOGRAPHY; DRUG SYNTHESIS;

APOPTOSIS; CELLS, CULTURED; CRYSTALLOGRAPHY, X-RAY; ENZYME INHIBITORS; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; IMINO PYRANOSES; LIPIDS; MICROSCOPY, CONFOCAL; MOLECULAR CHAPERONES; MOLECULAR DYNAMICS SIMULATION; MUTATION; PROTEIN CONFORMATION; PROTEIN FOLDING; SKIN; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; SPHINGOLIPIDS;

EID: 84907363027     PISSN: 13572725     EISSN: 18785875     Source Type: Journal    
DOI: 10.1016/j.biocel.2014.07.017     Document Type: Article

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