Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.

Zikanova, Marie; Skopova, Vaclava; Hnizda, Ales; Krijt, Jakub; Kmoch, Stanislav

Zikanova, Marie; Skopova, Vaclava; Hnizda, Ales; Krijt, Jakub; Kmoch, Stanislav.

Affiliation

Zikanova M; Institute of Inherited Metabolic Disorders, Charles University in Prague, First Faculty of Medicine, Ke Karlovu 2, Prague 2, Czech Republic.

Hum Mutat ; 31(4): 445-55, 2010 Apr.

Article in En | MEDLINE | ID: mdl-20127976

Subject(s)

Adenylosuccinate Lyase/deficiency; Adenylosuccinate Lyase/genetics; Genetic Heterogeneity; Multienzyme Complexes/chemistry; Multienzyme Complexes/deficiency; Mutant Proteins/chemistry; Mutant Proteins/genetics; Adenylosuccinate Lyase/chemistry; Electrophoresis, Polyacrylamide Gel; Enzyme Stability; Humans; Infant, Newborn; Multienzyme Complexes/genetics; Mutation/genetics; Phenotype; Protein Structure, Secondary; Structure-Activity Relationship

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adenylosuccinate Lyase / Genetic Heterogeneity / Mutant Proteins / Multienzyme Complexes Limits: Humans / Newborn Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: Czech Republic Country of publication: United States

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