Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.

Tiscornia, Gustavo; Vivas, Erika Lorenzo; Matalonga, Leslie; Berniakovich, Ina; Barragán Monasterio, Montserrat; Eguizábal, Cristina; Gort, Laura; González, Federico; Ortiz Mellet, Carmen; García Fernández, José Manuel; Ribes, Antonia; Veiga, Anna; Izpisua Belmonte, Juan Carlos

Tiscornia, Gustavo; Vivas, Erika Lorenzo; Matalonga, Leslie; Berniakovich, Ina; Barragán Monasterio, Montserrat; Eguizábal, Cristina; Gort, Laura; González, Federico; Ortiz Mellet, Carmen; García Fernández, José Manuel; Ribes, Antonia; Veiga, Anna; Izpisua Belmonte, Juan Carlos.

Affiliation

Tiscornia G; Center of Regenerative Medicine in Barcelona, Biochemistry and Molecular Genetics Department and IDIBAPS, Hospital Clínic, Barcelona, Spain.

Hum Mol Genet ; 22(4): 633-45, 2013 Feb 15.

Article in En | MEDLINE | ID: mdl-23118351

Subject(s)

1-Deoxynojirimycin/analogs & derivatives; Adamantane/analogs & derivatives; Gaucher Disease/drug therapy; Induced Pluripotent Stem Cells/drug effects; 1-Deoxynojirimycin/pharmacology; Adamantane/pharmacology; Antigens, Differentiation/metabolism; Base Sequence; Cell Differentiation; Cells, Cultured; DNA Mutational Analysis; Dopaminergic Neurons/enzymology; Drug Evaluation, Preclinical; Enzyme Stability/drug effects; Gaucher Disease/pathology; Gene Expression; Glucosylceramidase/genetics; Glucosylceramidase/metabolism; Humans; Induced Pluripotent Stem Cells/enzymology; Induced Pluripotent Stem Cells/physiology; Kruppel-Like Factor 4; Lysosomes/enzymology; Macrophages/metabolism; Oligonucleotide Array Sequence Analysis; Protein Transport; Small Molecule Libraries; Transcriptome

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Full text: 1 Database: MEDLINE Main subject: Adamantane / 1-Deoxynojirimycin / Induced Pluripotent Stem Cells / Gaucher Disease Type of study: Prognostic_studies Limits: Humans Language: En Year: 2013 Type: Article

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