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COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

By Pérez Pérez, Rafael | Lobo Jarne, Teresa | García Bartolomé, Alberto | Delmiro Magdalena, Aitor | García-Consuegra Galiana, Inés | Arenas Barbero, Joaquín | Martín, Miguel Ángel | Ugalde Bilbao, Cristina. Cell reports, 2016 . 16(9):2387-98. , Formato Vancouver: Pérez Pérez R, Lobo Jarne T, Milenkovic D, Mourier A, Bratic A, García Bartolomé A et al. COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation. Cell Rep. 2016 Aug 30;16(9):2387-98.

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A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.

By Gallego Bustos, Fernando | Delmiro Magdalena, Aitor | González Granados, Luis Ignacio | Allende Martínez, Luis Miguel. Frontiers in immunology, 2016 . 7:443. , Formato Vancouver: Gallego Bustos F, Gotea V, Ramos Amador JT, Rodríguez Pena R, Gil Herrera J, Sastre A, Delmiro A, Rai G, Elnitski L, González Granado LI, Allende LM. A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. Front Immunol. 2016 Oct 27;7:443.

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Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

By Martín, Miguel Ángel | Blázquez Encinar, Alberto | Delmiro Magdalena, Aitor | Hernández Laín, Aurelio. Neurology, 2015 . 84(22):2286-8. , Formato Vancouver: Cámara Y, Carreño Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A et al. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. Neurology. 2015 Jun 2;84(22):2286-8.

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iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis.

By Martín, Miguel Ángel | Delmiro Magdalena, Aitor. Stem cell research & therapy, 2015 . 6(1):119. , Formato Vancouver: Mateos J, Landeira Abia A, Fafián Labora JA, Fernández Pernas P, Lesende Rodríguez I, Fernández Puente P et al. iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis. Stem Cell Res Ther. 2015 Jun 12;6(1):119.

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Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

By Arenas Barbero, Joaquín | Martín, Miguel A. | Martinez Azorin, Francisco | Delmiro Magdalena, Aitor. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2014 . 18(6):796-800. , Formato Vancouver: Castro-Gago M, Dacruz-Alvárez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J et al. Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. Eur J Paediatr Neurol. 2014 Nov;18(6):796-800.

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Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease.

By Morán Jiménez, María Josefa | Arenas Barbero, Joaquín | Martín Casanueva, Miguel Ángel | Delmiro Magdalena, Aitor | Blázquez Encinar, Alberto | Ugalde Bilbao, Cristina. Biochimica et biophysica acta, 2014 . 1842(7):1059-70. , Formato Vancouver: Morán M, Delmiro A, Blázquez A, Ugalde C, Arenas J, Martín MA. Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease. Biochim Biophys Acta. 2014 Jul;1842(7):1059-70.

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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.

By Arenas Barbero, Joaquín | Delmiro Magdalena, Aitor | García Silva, María Teresa | Martín Casanueva, Miguel Ángel | Martinez Azorin, Francisco | Martín Hernández, Elena | Muley Alonso, Rafael | Quijada Fraile, Pilar | Rivera Gorrín, Henry. BMC nephrology, 2013 . 14:195. , Formato Vancouver: Rivera H, Martín-Hernández E, Delmiro A, García-Silva MT, Quijada-Fraile P, Muley R et al. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol. 2013 Sep 13;14:195.

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Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome.

By Martín Casanueva, Miguel Ángel | Arenas Barbero, Joaquín | Delmiro Magdalena, Aitor | García-Consuegra Galiana, Inés | Martinez Azorin, Francisco | Martín Hernández, Elena | Moreno Izquierdo, Ana | Quijada Fraile, Pilar | Rivera Gorrín, Henry | Simón de las Heras, Rogelio | García Silva, María Teresa. Human Mutation, 2013 , Formato Vancouver: Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P et al. Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum Mutat. 2013 Dec;34(12):1623-7.

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Monitorización de fármacos

By Gómez Valbuena, Isabel | Fernández del Pozo, Alba | Delmiro Magdalena, Aitor. Madrid: MSD, 2016 . p. 1627-1635 , Formato Vancouver: Gómez Valbuena I, Fernández del Pozo A, Delmiro Magdalena A. Monitorización de fármacos. En: Suárez Pita D, Vargas Romero JC, Losada Galván I, Miguel Campo B, Catalán Martín P, Sánchez Moreno B, et al., editores. Manual de diagnóstico y terapéutica médica. 8ª ed. Madrid: MSD; 2016. p. 1627-35.

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