Leigh syndrome associated with TRMU gene mutations

Autor: Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100690- (2021)

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur

Externí odkaz: https://doaj.org/article/acea3658f5bd4727b3e310ec0b2b0b1b

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome

Autor: Lidia Carreño-Gago, Montserrat Milà, Francisco Martínez, Maria Isabel Tejada, Maria Isabel Alvarez-Mora, L. Rodriguez-Revenga, Irene Madrigal, Silvia Izquierdo-Alvarez, Cristina Santos, Elena García-Arumí

Publikováno v: Mitochondrion
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in at least one-third of adult carriers of FMR1 premutation. Several studies have shown that mitochondrial dysfunction may play a role in neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ba368188d7a10016138adfc04c8f86
https://doi.org/10.1016/j.mito.2020.03.004

Leigh syndrome associated with TRMU gene mutations

Autor: Clara Carnicer, Laura Gort, Amaia Lasa-Aranzasti, José Antonio Arranz, María Unceta-Suárez, Mireia del Toro, Frederic Tort, Lucia Miguel, Lidia Carreño, Angel Sanchez-Montañez, Elena García-Arumí, Javier de las Heras, Júlia Sala-Coromina

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100690-(2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Addi. Archivo Digital para la Docencia y la Investigación
instname
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Scientia
Molecular Genetics and Metabolism Reports

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0eb21b6e0782d2c190974608f70bde
http://www.sciencedirect.com/science/article/pii/S2214426920301361

Analysis of Power Uprate in Nuclear Power Plants

Autor: Alejandro Nuñez-Carrera, Erick Gilberto Espinosa-Martínez, Raúl Camargo-Camargo, Ana Lidia Carreño-Padilla

Publikováno v: Energy Research Journal. 8:1-10

The three main strategies used by the utilities in order to obtain more benefits from the nuclear installations focused on electricity production and in order to satisfy their demand without carbon dioxide emissions are: (1) Power uprate, (2) plant l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2a7bda6e69d1d6885fcae410289fbb4e
https://doi.org/10.3844/erjsp.2017.1.10

Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts

Autor: Ramon Martí, Raquel Cabrera-Pérez, Anne Lombès, David Molina-Granada, Javier Torres-Torronteras, Xavier de la Cruz, Elena García-Arumí, Cora Blázquez-Bermejo, Lidia Carreño-Gago, Javier Ramón, Miguel Martín, Cristina Domínguez-González, Josu Aguirre, Yolanda Cámara

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 33(6)

Polymerase γ catalytic subunit (POLG) gene encodes the enzyme responsible for mitochondrial DNA (mtDNA) synthesis. Mutations affecting POLG are the most prevalent cause of mitochondrial disease because of defective mtDNA replication and lead to a wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad9b18c9800c45fe3dda3cc701df9d9
https://pubmed.ncbi.nlm.nih.gov/30848931