Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Molecular Genetics and Metabolism

Volumn 107, Issue 1-2, 2012, Pages 203-212

  Rigat, Brigitte A ^a   Tropak, Michael B ^a   Buttner, Justin ^a   Crushell, Ellen ^a,e   Benedict, Daphne ^a   Callahan, John W ^a,b   Martin, Douglas R ^c   Mahuran, Don J ^a,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c AUBURN UNIVERSITY   (United States)

^d UNIVERSITY OF TORONTO   (Canada)

^e CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

D galactosidase; Endoplasmic reticulum quality control; Large animal model; Lysosomal storage disease; Morquio disease type B; Small molecule therapy

Indexed keywords

BETA GALACTOSIDASE; CHAPERONE; N NONYL DEOXYGALACTONOJIRIMYCIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD BRAIN BARRIER; CAT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ENHANCEMENT THERAPY; ENZYME THERAPY; EX VIVO STUDY; GENOTYPE; GM1 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; IN VITRO STUDY; LYSOSOME; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; TISSUE CULTURE; WESTERN BLOTTING;

1-DEOXYNOJIRIMYCIN; ANIMALS; BETA-GALACTOSIDASE; CATS; CELL LINE, TUMOR; DISEASE MODELS, ANIMAL; ENZYME REPLACEMENT THERAPY; FIBROBLASTS; GANGLIOSIDOSIS, GM1; HOT TEMPERATURE; HUMANS; HYDROGEN-ION CONCENTRATION; MUTANT PROTEINS; MUTATION; PROTEIN DENATURATION; TREATMENT OUTCOME;

ANIMALIA; FELIDAE;

EID: 84866176470     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.06.007     Document Type: Article

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