Chemical chaperone therapy: Chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency

Human Mutation

Volumn 32, Issue 7, 2011, Pages 843-852

  Higaki, Katsumi ^a   Li, Linjing ^a,b   Bahrudin, Udin ^a,c,d   Okuzawa, Soichiro ^e   Takamuram, Ayumi ^a   Yamamoto, Koichi ^a   Adachi, Kaori ^b   Paraguison, Rubigilda C ^a   Takai, Tomoko ^a   Ikehata, Hiroki ^a   Tominaga, Lika ^a   Hisatome, Ichiro ^c   Iida, Masami ^f   Ogawa, Seiichiro ^e   Matsuda, Junichiro ^g   Ninomiya, Haruaki ^b   Sakakibara, Yasubumi ^e   Ohno, Kousaku ^b   Suzuki, Yoshiyuki ^h   Nanba, Eiji ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d DIPONEGORO UNIVERSITY   (Indonesia)

^e KEIO UNIVERSITY   (Japan)

^f SEIKAGAKU CORPORATION   (Japan)

^g NATIONAL INSTITUTE OF BIOMEDICAL INNOVATION   (Japan)

^h INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

Author keywords

Chaperone therapy; GM1 gangliosidosis; GLB1; Lysosomal storage disease; Ubiquitin

Indexed keywords

BETA GALACTOSIDASE; CHAPERONE; GANGLIOSIDE GM1; LYSOSOME ENZYME; N OCTYL 4 EPI BETA VALIENAMINE; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ASTROCYTE; CELL FRACTIONATION; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ENZYME ACTIVITY; ENZYME ASSAY; EXON; GENE EXPRESSION REGULATION; GENE INTERACTION; GENE MUTATION; GENE THERAPY; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GM1 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; LIPID STORAGE; MOLECULAR PATHOLOGY; MOUSE; MUTAGENESIS; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; SEQUENCE ANALYSIS; TREATMENT OUTCOME; WESTERN BLOTTING;

ANIMALS; BETA-GALACTOSIDASE; CELLS, CULTURED; ENZYME STABILITY; FIBROBLASTS; GANGLIOSIDOSIS, GM1; GENE EXPRESSION; GENETIC VECTORS; HEXOSAMINES; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUCOPOLYSACCHARIDOSIS IV; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 79959689098     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21516     Document Type: Article

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