Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Javier Torres-Torronteras"'
Autor:
David Molina-Granada, Emiliano González-Vioque, Marris G. Dibley, Raquel Cabrera-Pérez, Antoni Vallbona-Garcia, Javier Torres-Torronteras, Leonid A. Sazanov, Michael T. Ryan, Yolanda Cámara, Ramon Martí
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-16 (2022)
Mitochondrial dGTP is mostly bound to an accessory subunit of complex I of the mitochondrial respiratory chain, which may reveal a mechanism linking mitochondrial dNTP availability and oxidative metabolism.
Externí odkaz:
https://doaj.org/article/c2e314fb4cc24c139f22530a243441eb
Autor:
Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 13 (2022)
Mitochondrial DNA (mtDNA) depletion/deletions syndromes (MDDS) encompass a clinically and etiologically heterogenous group of mitochondrial disorders caused by impaired mtDNA maintenance. Among the most frequent causes of MDDS are defects in nucleosi
Externí odkaz:
https://doaj.org/article/c33cc000db5c486fac28f774f3298015
Autor:
Cora Blázquez-Bermejo, David Molina-Granada, Ferran Vila-Julià, Daniel Jiménez-Heis, Xiaoshan Zhou, Javier Torres-Torronteras, Anna Karlsson, Ramon Martí, Yolanda Cámara
Publikováno v:
EBioMedicine, Vol 46, Iss , Pp 342-355 (2019)
Background: Thymidine kinase 2 (TK2) catalyses the phosphorylation of deoxythymidine (dThd) and deoxycytidine (dCtd) within mitochondria. TK2 deficiency leads to mtDNA depletion or accumulation of multiple deletions. In patients, TK2 mutations typica
Externí odkaz:
https://doaj.org/article/786d6e325102429ebcb0aa282446d918
Autor:
Ferran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, Miguel Molina-Berenguer, Silvia Lope-Piedrafita, Michio Hirano, Federico Mingozzi, Javier Torres-Torronteras, Ramon Martí
Publikováno v:
EBioMedicine, Vol 62, Iss , Pp 103133- (2020)
Background: Preclinical studies have shown that gene therapy is a feasible approach to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). However, the genetic murine model of the disease (Tymp/Upp1 double knockout, dKO) has a limite
Externí odkaz:
https://doaj.org/article/84d3d95b8c2e43429d6705ac3a85d3d5
Autor:
Rana Yadak, Raquel Cabrera-Pérez, Javier Torres-Torronteras, Marianna Bugiani, Joost C. Haeck, Marshall W. Huston, Elly Bogaerts, Steffi Goffart, Edwin H. Jacobs, Merel Stok, Lorena Leonardelli, Luca Biasco, Robert M. Verdijk, Monique R. Bernsen, George Ruijter, Ramon Martí, Gerard Wagemaker, Niek P. van Til, Irenaeus F.M. de Coo
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 8, Iss C, Pp 152-165 (2018)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic accumulation of thymidine (d-Thd) and deoxyuridine (d-Urd) and characterized by e
Externí odkaz:
https://doaj.org/article/91c5b87792244f7bb100bcf6eb06a62a
Autor:
Lidia Carreño-Gago, Cora Blázquez-Bermejo, Jordi Díaz-Manera, Yolanda Cámara, Eduard Gallardo, Ramon Martí, Javier Torres-Torronteras, Elena García-Arumí
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. The clinical phenotype ranges from fatal infantile hepatocerebral forms to mild adu
Externí odkaz:
https://doaj.org/article/cd58f1af7be14c018f24419717dfc6ed
Autor:
Roger Badia, Maria Pujantell, Eva Riveira-Muñoz, Teresa Puig, Javier Torres-Torronteras, Ramón Martí, Bonaventura Clotet, Rosa M Ampudia, Marta Vives-Pi, José A Esté, Ester Ballana
Publikováno v:
PLoS Pathogens, Vol 12, Iss 8, p e1005829 (2016)
Macrophages are a heterogeneous cell population strongly influenced by differentiation stimuli that become susceptible to HIV-1 infection after inactivation of the restriction factor SAMHD1 by cyclin-dependent kinases (CDK). Here, we have used primar
Externí odkaz:
https://doaj.org/article/8d8f703dd2734ebc939401a5815668b2
Autor:
Gisela Nogales-Gadea, Inés Consuegra-García, Juan C Rubio, Joaquin Arenas, Marc Cuadros, Yolanda Camara, Javier Torres-Torronteras, Carmen Fiuza-Luces, Alejandro Lucia, Miguel A Martín, Elena García-Arumí, Antoni L Andreu
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31718 (2012)
McArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early fatigue and contractures. In this study, we investigated the effects produced by a lack of GP
Externí odkaz:
https://doaj.org/article/d02f9b119679451f86af8b382c5ba920
Publikováno v:
PLoS Genetics, Vol 7, Iss 3, p e1002035 (2011)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in
Externí odkaz:
https://doaj.org/article/794a6d6b20d04ede842147a57828aacc
Autor:
Pere Domingo, Javier Torres-Torronteras, Virginia Pomar, Marta Giralt, Joan Carles Domingo, Maria Del Mar Gutierrez, José M Gallego-Escuredo, Maria Gracia Mateo, Pedro Cano-Soldado, Irene Fernandez, Marçal Pastor-Anglada, Francesc Vidal, Francesc Villarroya, Antoni Andreu, Ramon Marti
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e13896 (2010)
BackgroundUridine has been advocated for the treatment of HIV-1/HAART-associated lipodystrophy (HALS), although its metabolism in HIV-1-infected patients is poorly understood.MethodsPlasma uridine concentrations were measured in 35 controls and 221 H
Externí odkaz:
https://doaj.org/article/22a61b1f92254da39add10ac81c125f9