Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

Annals of Neurology

Volumn 69, Issue 6, 2011, Pages 940-953

  Cullen, Valerie ^a,g   Sardi, S Pablo ^b   Ng, Juliana ^c   Xu, You Hai ^d   Sun, Ying ^d   Tomlinson, Julianna J ^c   Kolodziej, Piotr ^c   Kahn, Ilana ^a   Saftig, Paul ^e   Woulfe, John ^c   Rochet, Jean Christophe ^f   Glicksman, Marcie A ^a   Cheng, Seng H ^b   Grabowski, Gregory A ^d   Shihabuddin, Lamya S ^b   Schlossmacher, Michael G ^a,c,h  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b GENZYME CORPORATION   (United States)

^c OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF KIEL   (Germany)

^f PURDUE UNIVERSITY   (United States)

^g Link Medicine Corporation   (United States)

^h Roger Guindon Hall ^*  (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; CATHEPSIN D; CHAPERONE; GLUCOSYLCERAMIDASE; RAPAMYCIN; UBIQUITIN;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN DYSFUNCTION; CONTROLLED STUDY; DIFFUSE LEWY BODY DISEASE; ENZYME ACTIVITY; ENZYME INHIBITION; GAUCHER DISEASE; GENE MUTATION; GENE OVEREXPRESSION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HIPPOCAMPUS; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MOUSE; NONHUMAN; PARKINSON DISEASE; PRIORITY JOURNAL;

ALPHA-SYNUCLEIN; ANIMALS; CATHEPSIN D; CELL LINE; DISEASE MODELS, ANIMAL; DOSE-RESPONSE RELATIONSHIP, DRUG; ENZYME-LINKED IMMUNOSORBENT ASSAY; GAUCHER DISEASE; GENE EXPRESSION REGULATION; GLUCOSYLCERAMIDASE; GREEN FLUORESCENT PROTEINS; HUMANS; IMMUNOSUPPRESSIVE AGENTS; LEWY BODY DISEASE; MICE; MICE, KNOCKOUT; MUTAGENESIS, SITE-DIRECTED; MUTATION; PARKINSON DISEASE; RATS; SIROLIMUS; TRANSFECTION;

EID: 79956199921     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22400     Document Type: Article

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