Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins

Human Molecular Genetics

Volumn 23, Issue 21, 2014, Pages 5814-5826

  Motta, Marialetizia ^a   Camerini, Serena ^a   Tatti, Massimo ^a   Casella, Marialuisa ^a   Torreri, Paola ^b   Crescenzi, Marco ^a   Tartaglia, Marco ^a   Salvioli, Rosa ^a  

^a Oncology and Molecular Medicine ^*  (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; MUTANT PROTEIN; SAPOSIN C; SPHINGOLIPID ACTIVATOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOPHAGY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISULFIDE BOND; ENZYME ACTIVITY; GAUCHER DISEASE; GENE; GENE MUTATION; GENE REARRANGEMENT; HALF LIFE TIME; HUMAN; HUMAN CELL; PATHOGENESIS; PROTEIN DEGRADATION; PROTEIN LIPID INTERACTION; PROTEIN STABILITY; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; DEFICIENCY; GENE EXPRESSION; GENETICS; LYSOSOME; MASS SPECTROMETRY; METABOLISM; MOLECULAR GENETICS; MUTATION; PROTEIN CONFORMATION; PROTEIN TRANSPORT; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; GAUCHER DISEASE; GENE EXPRESSION; HUMANS; LYSOSOMES; MASS SPECTROMETRY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN CONFORMATION; PROTEIN STABILITY; PROTEIN TRANSPORT; PROTEOLYSIS; SAPOSINS; SEQUENCE ALIGNMENT;

EID: 84911406903     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu299     Document Type: Article

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