Listar por autor "Barca, Emanuele"

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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 ...
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy

Garcia Diaz, Beatriz; Garone, Caterina; Barca, Emanuele; Mojahed, Hamed; Gutiérrez, Purificación; Pizzorno, Giuseppe; Tanji, Kurenai; Arias Mendoza, Fernando; Quinzii, Catarina M; Hirano, Michio[et al.] (Oxford University Press, 2014)

Balanced pools of deoxyribonucleoside triphosphate precursors are required for DNA replication, and alterations of this balance are relevant to human mitochondrial diseases including mitochondrial neurogastrointestinal ...