Effect of "attenuated" mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase

Journal of Inherited Metabolic Disease

Volumn 30, Issue 5, 2007, Pages 758-767

  Montano A M ^a,b   Sukegawa, K ^b   Kato, Z ^b   Carrozzo, R ^c   Di Natale, P ^d   Christensen, E ^e   Orii, K O ^b   Orii, T ^b   Kondo, N ^b   Tomatsu, S ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GIFU UNIVERSITY   (Japan)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; N ACETYLGALACTOSAMINE 6 SULFATASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING AFFINITY; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME SUBSTRATE COMPLEX; FEMALE; GENE EXPRESSION; GENETIC STABILITY; HUMAN; HYDROPHOBICITY; IMMUNOBLOTTING; IN VITRO STUDY; MALE; MISSENSE MUTATION; MORQUIO SYNDROME; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PROTEIN DEGRADATION; PROTEIN MODIFICATION; PROTEIN PROCESSING; PROTEIN TERTIARY STRUCTURE; STRUCTURE ANALYSIS; TEMPERATURE MEASUREMENT; THERMOSTABILITY; WILD TYPE;

ADOLESCENT; ADULT; ANIMALS; CHO CELLS; CHONDROITINSULFATASES; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEAT; HUMANS; HYDROPHOBICITY; ITALY; JAPAN; KINETICS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS IV; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; PHENOTYPE; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN STRUCTURE, TERTIARY; SEVERITY OF ILLNESS INDEX; SUBSTRATE SPECIFICITY; TRANSFECTION;

EID: 35248897558     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0702-z     Document Type: Article

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