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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 ... -
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 ... -
Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
Garone, Caterina; Donati, Maria Alice; Sacchini, Michele; Garcia Diaz, Beatriz; Bruno, Claudio; Calvo, Sarah; Mootha, Vamsi K; DiMauro, Salvatore[et al.] (American Medical Association, 2013)Importance Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of “MitoExome” sequencing (deep sequencing of the entire mitochondrial genome and the coding ...