Zobrazeno 1 - 10 of 46 pro vyhledávání: '"Yolanda Cámara"'
1
Akademický článek
Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit
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
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2
Akademický článek
Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient miceResearch in context
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
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3
Akademický článek
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
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
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4
Akademický článek
Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin
Autor: Natividad Blasco, Yolanda Cámara, Estefanía Núñez, Aida Beà, Gisel Barés, Carles Forné, Marisol Ruíz-Meana, Cristina Girón, Ignasi Barba, Elena García-Arumí, David García-Dorado, Jesús Vázquez, Ramon Martí, Marta Llovera, Daniel Sanchis
Publikováno v: Redox Biology, Vol 16, Iss , Pp 146-156 (2018)
The endonuclease G gene (Endog), which codes for a mitochondrial nuclease, was identified as a determinant of cardiac hypertrophy. How ENDOG controls cardiomyocyte growth is still unknown. Thus, we aimed at finding the link between ENDOG activity and
Externí odkaz: https://doaj.org/article/e9f7dcc0f3da43138d4fb856b971dc9a
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5
Akademický článek
Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions
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
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6
Akademický článek
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
Autor: Ilaria Dalla Rosa, Yolanda Cámara, Romina Durigon, Chloe F Moss, Sara Vidoni, Gokhan Akman, Lilian Hunt, Mark A Johnson, Sarah Grocott, Liya Wang, David R Thorburn, Michio Hirano, Joanna Poulton, Robert W Taylor, Greg Elgar, Ramon Martí, Peter Voshol, Ian J Holt, Antonella Spinazzola
Publikováno v: PLoS Genetics, Vol 12, Iss 1, p e1005779 (2016)
MPV17 is a mitochondrial inner membrane protein whose dysfunction causes mitochondrial DNA abnormalities and disease by an unknown mechanism. Perturbations of deoxynucleoside triphosphate (dNTP) pools are a recognized cause of mitochondrial genomic i
Externí odkaz: https://doaj.org/article/fd0c8fb28a5f40f98a92dee74e9682c6
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7
Therapy Prospects for Mitochondrial DNA Maintenance Disorders
Autor: Yolanda Cámara, Ferran Vila-Julià, David Molina-Granada, Maria Jesús Melià, Javier Torres-Torronteras, Miguel Molina-Berenguer, Ramon Martí, Elena García-Arumí, Javier Ramón
Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 6447, p 6447 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Esgotament; Teràpia gènica; Mitocondris Mitochondria; Depletion; Gene therapy Agotamiento; Terapia génica; Mitocondrias Mitochondrial DNA depletion and multiple deletions syndromes (MDDS) constitute a group of mitochondrial diseases defined by dys
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a05d416ac82094cae00451c40ad52ab
http://europepmc.org/articles/PMC8234938
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8
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
Autor: Ramon Martí, Miguel Molina-Berenguer, Javier Torres-Torronteras, Raquel Cabrera-Pérez, Yolanda Cámara, Ferran Vila-Julià, Michio Hirano, Silvia Lope-Piedrafita, Federico Mingozzi
Publikováno v: EBioMedicine
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
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 limited
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50028b5796e6f9101446e7cf3352acce
http://europepmc.org/articles/PMC7689515
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9
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Autor: C. Jimenez-Mallebrera, Cristina Domínguez-González, Selena Trifunov, Jordi Díaz-Manera, Carmen Badosa, Fabiola Mavillard, Julio Montoya, Itxaso Marti, Michio Hirano, Marcos Madruga-Garrido, Carmen Paradas, Raquel Montero, Daniel Cuadras, Rafael Artuch, Ramon Martí, Jorge Alonso-Pérez, Joan Villarroya, Andres Berardo, Susana G. Kalko, Yolanda Cámara, Miguel A. Martín, Andrés Nascimento, Eduardo Ruiz-Pesini, Carlos Ortez, Cora Blázquez-Bermejo, Francesc Villarroya
Publikováno v: SCIENTIFIC REPORTS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Consejo Superior de Investigaciones Científicas (CSIC)
GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. GDF
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a563d6d7a349db1a70fda0b22a12d0
http://zaguan.unizar.es/record/94553
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10
Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT - ND1 gene associated with LHON syndrome
Autor: Maria Salvado, Xavier de la Cruz, Tomàs Pinós, Elena Álvarez de la Campa, Alicia Galan, Lidia Carreño-Gago, Elena García-Arumí, Yolanda Cámara, Dulce Moncho, Josep Gamez, J.S. Aller-Alvarez
Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863:182-187
Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by bilateral acute or subacute progressive central visual loss. Most cases of LHON syndrome are caused by point mutations in the MT-ND1, MT-ND4, and MT-ND6 ge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6372560873df43187c8e67c71450fce0
https://doi.org/10.1016/j.bbadis.2016.09.002
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