GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease

Human Molecular Genetics

Volumn 21, Issue 7, 2012, Pages 1481-1495

  Roy, Elise ^a   Bruyère, Julie ^a   Flamant, Patricia ^a   Bigou, Stéphanie ^a   Ausseil, Jérôme ^a   Vitry, Sandrine ^a   Heard, Jean Michel ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; CYTOPLASM PROTEIN; GM130 PROTEIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG;

ARTICLE; CELL VACUOLE; CONTROLLED STUDY; DOWN REGULATION; GAIN OF FUNCTION MUTATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; LYSOSOME; LYSOSOME STORAGE DISEASE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; SANFILIPPO SYNDROME;

ACETYLGLUCOSAMINIDASE; AUTOANTIGENS; GOLGI APPARATUS; HELA CELLS; HUMANS; LYSOSOMES; MEMBRANE PROTEINS; MICROTUBULES; MODELS, BIOLOGICAL; MUCOPOLYSACCHARIDOSIS III; VACUOLES;

EID: 84858203058     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr584     Document Type: Article

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