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

Montaño, A M; Sukegawa, K; Kato, Z; Carrozzo, R; Di Natale, P; Christensen, E; Orii, K O; Orii, T; Kondo, N; Tomatsu, S

Montaño, A M; Sukegawa, K; Kato, Z; Carrozzo, R; Di Natale, P; Christensen, E; Orii, K O; Orii, T; Kondo, N; Tomatsu, S.

Affiliation

Montaño AM; Department of Pediatrics, Saint Louis University, Pediatric Research Institute, 3662 Park Ave., St. Louis, MO 63110-2586, USA.

J Inherit Metab Dis ; 30(5): 758-67, 2007 Oct.

Article in En | MEDLINE | ID: mdl-17876718

Subject(s)

Chondroitinsulfatases/genetics; Mucopolysaccharidosis IV/genetics; Mutation, Missense; Adolescent; Adult; Animals; CHO Cells; Chondroitinsulfatases/chemistry; Chondroitinsulfatases/deficiency; Chondroitinsulfatases/metabolism; Cricetinae; Cricetulus; DNA Mutational Analysis; Enzyme Stability; Exons; Female; Genetic Predisposition to Disease; Hot Temperature; Humans; Hydrophobic and Hydrophilic Interactions; Italy; Japan; Kinetics; Male; Middle Aged; Models, Molecular; Mucopolysaccharidosis IV/enzymology; Pakistan; Pedigree; Phenotype; Protein Processing, Post-Translational; Protein Structure, Tertiary; Severity of Illness Index; Substrate Specificity; Transfection

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Collection: 01-internacional Database: MEDLINE Main subject: Chondroitinsulfatases / Mucopolysaccharidosis IV / Mutation, Missense Type of study: Clinical_trials / Prognostic_studies Country/Region as subject: Asia / Europa Language: En Journal: J Inherit Metab Dis Year: 2007 Document type: Article Affiliation country: United States Country of publication: United States

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