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Listar por autor "Akman, Hasan O"
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Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Garone, Caterina; Garcia Diaz, Beatriz; Emmanuele, Valentina; Lopez, Luis C; Tadesse, Saba; Akman, Hasan O; Tanji, Kurenai; Quinzii, Catarina M; Hirano, Michio[et al.] (Wiley; BlackWell Publishing Ltd; Wiley-Blackwell, 2014)utosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP) ... -
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele, Valentina; Kubota, Akatsuki; Garcia Diaz, Beatriz; Garone, Caterina; Akman, Hasan O; Sánchez-Gutiérrez, Daniel; Escudero, Luis M.; Kariya, Shingo; Homma, Shunichi; Tanji, Kurenai; Quinzii, Catarina M.; Hirano, Michio[et al.] (Oxford Academic, 2014-09-30)A member of the four-and-a-half-LIM (FHL) domain protein family, FHL1, is highly expressed in human adult skeletal and cardiac muscle. Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal ... -
Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
Garcia Diaz, Beatriz; Barros, Mario H.; Sanna, Simone; Emmanuele, Valentina; Akman, Hasan O; Ferreiro Barros, Claudia C.; Horvath, Rita; Tadesse, Saba; El Gharaby, Nader; DiMauro, Salvatore; De Vivo, Darryl C.; Shokr, Aly; Hirado, Michio; Quinzii, Catarina M[et al.] (The American Society of Human Genetics, 2012)Defects of mitochondrial protein synthesis are clinically and genetically heterogeneous. We previously described a male infant who was born to consanguineous parents and who presented with severe congenital encephalopathy, ...