Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C

Neurobiology of Disease

Volumn 16, Issue 3, 2004, Pages 654-658

  Lachmann, Robin H ^a,c   Te Vruchte, Danielle ^b   Lloyd Evans, Emyr ^b   Reinkensmeier, Gabriele ^b   Sillence, Daniel J ^b   Fernandez Guillen, Luisa ^b   Dwek, Raymond A ^b   Butters, Terry D ^b   Cox, Timothy M ^a   Platt, Frances M ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Glycosphingolipidoses; Lipid trafficking; Miglustat; Niemann Pick disease type C; Substrate reduction therapy

Indexed keywords

GLYCOLIPID; GLYCOSPHINGOLIPID; MIGLUSTAT;

ADULT; ARTICLE; B LYMPHOCYTE; BLOOD; CHOLESTEROL METABOLISM; CONTROLLED STUDY; DEGENERATIVE DISEASE; FABRY DISEASE; FEMALE; HUMAN; HUMAN CELL; LIPID STORAGE; LIPIDOSIS; LIPOGENESIS; MALE; NIEMANN PICK DISEASE; PRIORITY JOURNAL;

ADULT; BORON COMPOUNDS; CELLS, CULTURED; ENDOCYTOSIS; ENDOSOMES; FEMALE; FIBROBLASTS; FLUORESCENT DYES; GLUCOSYLCERAMIDASE; GLYCOLIPIDS; HUMANS; LYSOSOMES; NIEMANN-PICK DISEASES;

EID: 3242741280     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2004.05.002     Document Type: Article

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