Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

Molecular Genetics and Metabolism

Volumn 94, Issue 3, 2008, Pages 305-312

  Garrido, Elena ^a,b   Cormand, Bru ^a,b   Hopwood, John J ^c   Chabás, Amparo ^b,d   Grinberg, Daniel ^a,b   Vilageliu, Lluïsa ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Lysosomal Diseases Research Unit   (Australia)

^d HOSPITAL CLÍNIC   (Spain)

Author keywords

COS 7 cells; Indirect immunofluorescence; Maroteaux Lamy syndrome; N Acetylgalactosamine 4 sulfatase; Nonsense mediated RNA decay; Transient expression

Indexed keywords

N ACETYLGALACTOSAMINE 4 SULFATASE; RNA;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME LOCALIZATION; FIBROBLAST; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; NONHUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING;

ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; CODON, NONSENSE; COS CELLS; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; HUMANS; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS VI; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN PROCESSING, POST-TRANSLATIONAL; RNA STABILITY; TRANSFECTION;

EID: 44649125943     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.02.012     Document Type: Article

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