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Volumn 41, Issue 15, 2002, Pages 4962-4971

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network

(5) Bradford, Tessa M a,b Litjens, Tom a,b Parkinson, Emma J a,b Hopwood, John J a,b Brooks, Doug A a,b

a WOMEN S AND CHILDREN S HOSPITAL (Australia)

b UNIVERSITY OF ADELAIDE (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MUTATIONS;

BIOSYNTHESIS; CELLS; ENZYME INHIBITION; ENZYMES; MUTAGENESIS; PATIENT TREATMENT; SUBSTRATES;

POLYSACCHARIDES;

CHONDROITIN SULFATE; DERMATAN; GLYCOSAMINOGLYCAN; MUTANT PROTEIN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ANIMAL CELL; ARTICLE; CHO CELL; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENDOSOME; ENZYME ACTIVITY; GENE; GENE MUTATION; GENE Y210C; LYSOSOME; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; MOLECULAR WEIGHT; NONHUMAN; PH; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PROTEIN STABILITY;

AMINO ACID SUBSTITUTION; ANIMALS; ANTIBODIES; ANTIBODIES, MONOCLONAL; BLOTTING, NORTHERN; CHO CELLS; CRICETINAE; HUMANS; KINETICS; LYSOSOMES; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS VI; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE; PROTEIN CONFORMATION; RABBITS; RECOMBINANT PROTEINS; TRANSFECTION; VACUOLES;

ANIMALIA; CRICETINAE; CRICETULUS GRISEUS;

EID: 0037117727 PISSN: 00062960 EISSN: None Source Type: Journal
DOI: 10.1021/bi0121149 Document Type: Article

Times cited : (12)

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