Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation

Journal of the Formosan Medical Association

Volumn 100, Issue 12, 2001, Pages 820-823

  Yang, Chi Fan ^a   Wu, Jer Yuarn ^a   Lin, Shuan Pei ^a   Tsai, Fuu Jen ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Arylsulfatase B; MPS VI; Mucopolysaccharidosis type VI; Mutation

Indexed keywords

ARGININE; CYSTEINE; GLYCINE; GLYCOSAMINOGLYCAN; LEUCINE; METHIONINE; N ACETYLGALACTOSAMINE 4 SULFATASE; NUCLEOTIDE; PHENYLALANINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DNA POLYMORPHISM; ENZYME DEFICIENCY; GENE IDENTIFICATION; GENETIC CORRELATION; GENOTYPE; HUMAN; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MORQUIO SYNDROME; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PERINATAL PERIOD; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; TAIWAN;

ADOLESCENT; ALLELES; AMINO ACID SUBSTITUTION; FEMALE; GENOTYPE; HUMANS; MUCOPOLYSACCHARIDOSIS VI; MUTATION; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINE-4-SULFATASE; PHENOTYPE; POLYMORPHISM, GENETIC; TAIWAN;

EID: 0035693390     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. The mucopolysaccharidoses
2. Structure of the human arylsulfatase B gene
3. Structure of a human lysosomal sulfatase
4. Crystal structure of human arylsulfatase A: The aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis
5. A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)
6. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Six unique arylsulfatase B gene alleles causing variable disease phenotype
7. Phylogenetic conservation of arylsulfatases: cDNA cloning and expression of human arylsulfatase B
8. Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatase A and C
9. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B
10. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
11. Generation of a lysosomal enzyme targeting signal in the secretory protein pepsinogen
12. Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs