Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones

Journal of Neuroscience

Volumn 30, Issue 16, 2010, Pages 5489-5497

  Lee, Wing C ^a   Kang, Dongcheul ^a   Causevic, Ena ^a   Herdt, Aimee R ^a   Eckman, Elizabeth A ^a   Eckman, Christopher B ^a,b  

^a MAYO GRADUATE SCHOOL   (United States)

^b MidAtlantic Neonatology Associates   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; COMPLEMENTARY DNA; ENZYME INHIBITOR; GALACTOSYLCERAMIDASE; LOBELINE;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ANIMAL CELL CULTURE; ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; GENE AMPLIFICATION; GENE LOCATION; GENETIC TRANSFECTION; GLOBOID CELL LEUKODYSTROPHY; GLYCOSYLATION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; LYSOSOME; MAMMAL CELL; MOLECULAR BIOLOGY; MOLECULAR CLONING; MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN SECRETION; WESTERN BLOTTING;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; ENZYME ACTIVATION; ENZYME PRECURSORS; GALACTOSYLCERAMIDASE; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; MOLECULAR CHAPERONES; MUTAGENESIS, SITE-DIRECTED; PROTEIN FOLDING; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 77951539364     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.6383-09.2010     Document Type: Article

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