The role of saposin C in Gaucher disease

Molecular Genetics and Metabolism

Volumn 106, Issue 3, 2012, Pages 257-263

  Tamargo, Rafael J ^a   Velayati, Arash ^a   Goldin, Ehud ^a   Sidransky, Ellen ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Activator; Glucocerebrosidase; Lysosomal storage disorder; Modifier; Prosaposin

Indexed keywords

COMPLEMENTARY DNA; GLUCOSYLCERAMIDASE; PROSAPOSIN; PROTEIN DERIVATIVE; SAPOSIN C; UNCLASSIFIED DRUG;

GAUCHER DISEASE; GENE MUTATION; HUMAN; NONHUMAN; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; REVIEW;

ANIMALS; DISEASE MODELS, ANIMAL; GAUCHER DISEASE; HUMANS; MICE; MODELS, BIOLOGICAL; MUTATION; PHENOTYPE; SAPOSINS;

EID: 84862571492     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.04.024     Document Type: Review

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