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Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency.
López-Gómez, Carlos; Levy, Rebecca J; Sánchez-Quintero, María José; Juanola-Falgarona, Martí; Barca, Emanuele; Garcia Diaz, Beatriz; Tadesse, Saba; Garone, Caterina; Hirano, Michio[et al.] (Wiley, 2017)Objective—Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene TK2 cause TK2 deficiency, which ... -
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) ... -
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, ... -
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Garcia Diaz, Beatriz; Emmanuele, Valentina; Balreira, Andrea; Lopez, Luis C; Tadesse, Saba; Krishna, Sindhu; Naini, Ali; Mariotti, Caterina; Castellotti, Barbara; Quinzii, Catarina M.[et al.] (Oxford University Press, 2015)Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein aprataxin (APTX). CoQ10 deficiency has been identified in fibroblasts ...