Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

Baresova, Veronika; Skopova, Vaclava; Sikora, Jakub; Patterson, David; Sovova, Jana; Zikanova, Marie; Kmoch, Stanislav

Baresova, Veronika; Skopova, Vaclava; Sikora, Jakub; Patterson, David; Sovova, Jana; Zikanova, Marie; Kmoch, Stanislav.

Affiliation

Baresova V; Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, 128 08 Prague 2, Czech Republic.

Hum Mol Genet ; 21(7): 1534-43, 2012 Apr 01.

Article in En | MEDLINE | ID: mdl-22180458

Subject(s)

Adenylosuccinate Lyase/genetics; Hydroxymethyl and Formyl Transferases/genetics; Multienzyme Complexes/genetics; Nucleotide Deaminases/genetics; Purine-Pyrimidine Metabolism, Inborn Errors/enzymology; Purine-Pyrimidine Metabolism, Inborn Errors/genetics; Adenylosuccinate Lyase/deficiency; Autistic Disorder; Cell Line, Tumor; Cells, Cultured; Fibroblasts/enzymology; HeLa Cells; Humans; Hydroxymethyl and Formyl Transferases/analysis; Keratinocytes/enzymology; Multienzyme Complexes/analysis; Mutation; Nucleotide Deaminases/analysis; Purines/metabolism; Skin/cytology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Purine-Pyrimidine Metabolism, Inborn Errors / Adenylosuccinate Lyase / Hydroxymethyl and Formyl Transferases / Multienzyme Complexes / Nucleotide Deaminases Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2012 Type: Article Affiliation country: Czech Republic

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