Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

Human Mutation

Volumn 23, Issue 6, 2004, Pages 559-566

  Muschol, Nicole ^a   Storch, Stephan ^a   Ballhausen, Diana ^a   Beesley, Clare ^b   Westermann, Jan Christoph ^c   Gal, Andreas ^a   Ullrich, Kurt ^a   Hopwood, John J ^d   Winchester, Bryan ^b   Braulke, Thomas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF HAMBURG   (Germany)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Lysosomal storage disease; MSPIIIA; Mucopolysaccharidosis III A; Sanfilippo syndrome; SGSH; Sulfamidase; Sulphamidase

Indexed keywords

HEPARAN SULFATE; SULFAMIDASE; SULFATASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHO CELL; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; INCIDENCE; LYSOSOME STORAGE DISEASE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN STABILITY; SANFILIPPO SYNDROME; WESTERN BLOTTING; WILD TYPE;

ANIMALS; CELL LINE; CHO CELLS; CRICETINAE; ENDOPLASMIC RETICULUM; ENZYME STABILITY; HUMANS; HYDROLASES; LYSOSOMES; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS III; MUTATION; PRECIPITIN TESTS; PROTEIN BIOSYNTHESIS; PROTEIN TRANSPORT; RECOMBINANT PROTEINS;

EID: 2642547512     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20037     Document Type: Article

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