المؤلفون: Blázquez Bermejo, Cora

المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular

Thesis Advisors: Cámara Navarro, Yolanda, Martí Seves, Ramon, Vila Bover, Miquel

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Adnmt, Mtdna, Tk2, Polg, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/670111

المؤلفون: Al-Fata Soulaima, Masri Marwa, Hage Pierre, Hamod Dany, Diab Nabil, Ghanem Soha, Megarbane Andre, El-Khoury Riyad, Sacy Robert, Mansour Hicham*

المصدر: SVOA Paediatrics, 2(2), 31-35, (2023-03-02)

مصطلحات موضوعية: TK2 gene, Exome, Myopathy, Mitochondrial Disease, COVID-19

Relation: https://doi.org/10.58624/SVOAPD.2023.02.029; oai:zenodo.org:7698653

الاتاحة: https://doi.org/10.58624/SVOAPD.2023.02.029

المؤلفون: Jon Andoni Urtizberea, Gianmarco Severa, Edoardo Malfatti

المصدر: Genes; Volume 14; Issue 5; Pages: 954

مصطلحات موضوعية: muscle metabolism, metabolic myopathies, glycogen storage disorders, muscle glycogenoses, lipid storage diseases, Pompe disease, McArdle disease, Cori–Forbes disease, Tarui disease, polyglucosan body myopathies, TK2 myopathy, mitochondrial myopathies

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14050954

الاتاحة: https://doi.org/10.3390/genes14050954

المؤلفون: Arianna Manini, Megi Meneri, Carmelo Rodolico, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Dario Ronchi

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: thymidine kinase 2, TK2, mitochondrial DNA, mtDNA maintenance defects, myopathy, deoxynucleosides, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.857279/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/b5c28c6efce844de920d3d26d2604229

المؤلفون: Domínguez-González, C, Fernández-Torrón, Roberto, Moore, Ursula, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Vélez-Gómez, Beatriz, Cabezas, Juan Antonio, Alonso-Pérez, Jorge, González-Mera, Laura, Olive, Montse, García-García, Jorge, Morís, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servian-Morilla, Emilia, Martín, Miguel Angel, Diaz-Manera, Jordi, Paradas, Carmen, Universitat Autònoma de Barcelona

مصطلحات موضوعية: TK2, Mitochondrial myopathy, MRI

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III PI18/01374; Instituto de Salud Carlos III PMP15/00025; Journal of Neurology; Vol. 269 Núm. 7 (july 2022), p. 3550-3562; https://ddd.uab.cat/record/280854; urn:oai:ddd.uab.cat:280854; urn:scopus_id:85126223056; urn:articleid:14321459v269n7p3550; urn:oai:pubmedcentral.nih.gov:9217784; urn:pmid:35286480; urn:pmcid:PMC9217784

الاتاحة: https://ddd.uab.cat/record/280854

المؤلفون: Jou, Cristina, Nascimento, Andres, Codina, Anna, Montoya, Julio, López-Gallardo, Ester, Emperador, Sonia, Ruiz-Pesini, Eduardo, Montero, Raquel, Natera-de Benito, Daniel, Ortez González, Carlos Ignacio, Marquez, Jesus, Zelaya, Maria Victoria, Gutierrez-Mata, Alfonso, Badosa, Carmen, Carrera-García, Laura, Expósito-Escudero, Jesica, Roldan Molina, Mònica, Cámara, Yolanda, Martí, Ramon A, Ferrer, Isidro, Jiménez Mallebrera, Cecilia, Artuch, R, Universitat Autònoma de Barcelona

مصطلحات موضوعية: TK2 deficiency, Paediatric patients, Ultrastructural studies, Muscle biopsy, Mitochondrial myopathies, Ragged red fibres

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III PI17-00021; Instituto de Salud Carlos III PI17-00166; Instituto de Salud Carlos III PI20-00340; International journal of molecular sciences; Vol. 23 (september 2022); https://ddd.uab.cat/record/267045; urn:10.3390/ijms231911002; urn:oai:ddd.uab.cat:267045; urn:pmcid:PMC9570075; urn:pmc-uid:9570075; urn:pmid:36232299; urn:oai:pubmedcentral.nih.gov:9570075

الاتاحة: https://ddd.uab.cat/record/267045

المؤلفون: Domínguez-González, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Vélez-Gómez, Beatriz, Cabezas, Juan Antonio, Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servian-Morilla, Emilia, Martin, Miguel A, Díaz-Manera, Jordi, Paradas, Carmen

مصطلحات موضوعية: MRI, Mitochondrial myopathy, TK2, Adult, DNA, Mitochondrial, Humans, Magnetic Resonance Imaging, Mitochondrial Myopathies, Muscle, Skeletal, Muscular Diseases

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10668/20008; PMC9217784; https://link.springer.com/content/pdf/10.1007/s00415-021-10957-0.pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217784/pdf

الاتاحة: http://hdl.handle.net/10668/20008
https://doi.org/10.1007/s00415-021-10957-0
https://link.springer.com/content/pdf/10.1007/s00415-021-10957-0.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217784/pdf

المؤلفون: Cristina Jou, Andres Nascimento, Anna Codina, Julio Montoya, Ester López-Gallardo, Sonia Emperador, Eduardo Ruiz-Pesini, Raquel Montero, Daniel Natera-de Benito, Carlos I. Ortez, Jesus Marquez, Maria V. Zelaya, Alfonso Gutierrez-Mata, Carmen Badosa, Laura Carrera-García, Jesica Expósito-Escudero, Monica Roldán, Yolanda Camara, Ramon Marti, Isidre Ferrer, Cecilia Jimenez-Mallebrera, Rafael Artuch

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11002

مصطلحات موضوعية: TK2 deficiency, paediatric patients, ultrastructural studies, muscle biopsy, mitochondrial myopathies, ragged red fibres

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms231911002

الاتاحة: https://doi.org/10.3390/ijms231911002

المؤلفون: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: TK2 deficiency, Mitochondrial myopathy, Multiple deletions, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1071-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21

المؤلفون: Domínguez González, Cristina, Hernández Laín, Aurelio, Rivas, Eloy, Hernández Voth, Ana R., Sayas Catalán, Javier, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Caballero Eraso, Candelaria, Paradas, Carmen

المساهمون: Instituto de Biomedicina de Sevilla (IBIS)

مصطلحات موضوعية: Mitochondrial myopathy, Multiple deletions, TK2 deficiency

Relation: Orphanet journal of rare diseases, 14 (1), 100-1-100-10.; PMP15/00025; PI16-01843; PI16/00579; CP09/00011; PI 15/00431; http://doi.org/10.1186/s13023-019-1071-z; https://idus.us.es/handle//11441/87756

الاتاحة: https://idus.us.es/handle//11441/87756

المؤلفون: Dominguez-Gonzalez C., Madruga-Garrido M., Mavillard F., Garone C., Aguirre-Rodriguez F. J., Donati M. A., Kleinsteuber K., Marti I., Martin-Hernandez E., Morealejo-Aycinena J. P., Munell F., Nascimento A., Kalko S. G., Sardina M. D., Alvarez del Vayo C., Serrano O., Long Y., Tu Y., Levin B., Thompson J. L. P., Engelstad K., Uddin J., Torres-Torronteras J., Jimenez-Mallebrera C., Marti R., Paradas C., Hirano M.

المساهمون: Dominguez-Gonzalez C., Madruga-Garrido M., Mavillard F., Garone C., Aguirre-Rodriguez F.J., Donati M.A., Kleinsteuber K., Marti I., Martin-Hernandez E., Morealejo-Aycinena J.P., Munell F., Nascimento A., Kalko S.G., Sardina M.D., Alvarez del Vayo C., Serrano O., Long Y., Tu Y., Levin B., Thompson J.L.P., Engelstad K., Uddin J., Torres-Torronteras J., Jimenez-Mallebrera C., Marti R., Paradas C., Hirano M.

مصطلحات موضوعية: tk2, myopathy, nucleosides, therapy

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31125140; info:eu-repo/semantics/altIdentifier/wos/WOS:000475670500013; volume:86; issue:2; firstpage:293; lastpage:303; numberofpages:11; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11585/715887; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067438708; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1531-8249

الاتاحة: http://hdl.handle.net/11585/715887
https://doi.org/10.1002/ana.25506
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1531-8249

المؤلفون: Domínguez-González, C, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olive, Montse, Miralles, Frances, Diaz-Manera, Jordi, Caballero Sahelices, Concesa, Méndez-Ferrer, Bosco, Martí, Ramon A., Garcia-Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jiménez Mallebrera, Cecilia, Encinar, Alberto Blazquez, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ãngel, Paradas, Carmen, Universitat Autònoma de Barcelona

مصطلحات موضوعية: TK2 deficiency, Mitochondrial myopathy, Multiple deletions

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III PI16-01843; Instituto de Salud Carlos III PI16/00579; Instituto de Salud Carlos III CP09/00011; Instituto de Salud Carlos III PI12/01683; Instituto de Salud Carlos III PMP15/00025; Orphanet Journal of Rare Diseases; Vol. 14 (may 2019); https://ddd.uab.cat/record/253285; urn:10.1186/s13023-019-1071-z; urn:oai:ddd.uab.cat:253285; urn:pmcid:PMC6501326; urn:pmc-uid:6501326; urn:pmid:31060578; urn:oai:pubmedcentral.nih.gov:6501326; urn:scopus_id:85065652720

الاتاحة: https://ddd.uab.cat/record/253285

المؤلفون: Blázquez-Bermejo, Cora, Molina-Granada, David, Vila-Julià, Ferran, Jiménez-Heis, Daniel, Zhou, Xiaoshan, Torres-Torronteras, Javier, Karlsson, Anna, Martí, Ramon A., Cámara, Yolanda, Universitat Autònoma de Barcelona

مصطلحات موضوعية: TK2, Deoxynucleoside therapy, Mtdna depletion, Encephalomyopathy, Thymidine, Deoxycytidine, CDA, cytidine deaminase, CNS, central nervous system, Dck, deoxycytidine kinase, Dcmp, deoxycytidine monophosphate, Dctd, Dn, deoxynucleoside, Dnmp, deoxynucleoside monophosphate, Dntp, deoxynucleoside triphosphate, Dthd, deoxythymidine, Dtmp, deoxythymidine monophosphate, KO, knockout, Mtdna, mitochondrial DNA, Ndna

وصف الملف: application/pdf

Relation: Ministerio de Economía y Competitividad FU2014-52618-R; Ministerio de Economía y Competitividad SAF2017-87506-R; Instituto de Salud Carlos III PI15/00465; Instituto de Salud Carlos III PMP15/00025; Agència de Gestió d'Ajuts Universitaris i de Recerca SLT002/16/00370; EBioMedicine; Vol. 46 (july 2019), p. 342-355; https://ddd.uab.cat/record/226556; urn:10.1016/j.ebiom.2019.07.042; urn:oai:ddd.uab.cat:226556; urn:pmid:31351931; urn:pmcid:PMC6711114; urn:pmc-uid:6711114; urn:articleid:23523964v46p342; urn:scopus_id:85069715591; urn:oai:pubmedcentral.nih.gov:6711114

الاتاحة: https://ddd.uab.cat/record/226556

المؤلفون: Garone, Caterina, Taylor, Robert W., Nascimento, Andres, Poulton, Joanna, Fratter, Carl, Dominguez-Gonzalez, Cristina, Evans, Julie C., Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M. Imelda, McFarland, Robert, Barca, Emanuele, Gomez, Carlos Lopez, Jayawant, Sandeep, Thomas, Neil D., Manzur, Adnan Y., Kleinsteuber, Karin, Martin, Miguel A., Kerr, Timothy, Gorman, Grainne S., Sommerville, Ewen W., Chinnery, Patrick F., Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Camara, Yolanda, Madruga-Garrido, Marcos, Dominguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F., Schoenaker, Robert, Levin, Bruce, Thompson, John L. P., Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio

المساهمون: Doctoral Programme in Clinical Research, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Research Programme for Molecular Neurology, Children's Hospital, Clinicum, Lastenneurologian yksikkö, University of Helsinki, Doctoral Programme Brain & Mind, Neurologian yksikkö, Neuroscience Center, HUS Children and Adolescents

مصطلحات موضوعية: MITOCHONDRIAL-DNA DEPLETION, SPINAL MUSCULAR-ATROPHY, TK2 GENE, MTDNA DEPLETION, MYOPATHIC FORM, MUTATIONS, PATIENT, DELETIONS, SPECTRUM, DEFECT, Biomedicine

وصف الملف: application/pdf

Relation: This work was supported by research grants from NIH (P01 HD080642) and U54 NS078059 from NINDS, NICHD, ODS and the National Center for Advancing Translational Science (NCATS), the Muscular Dystrophy Association (MIH) and the Associarione Maalattie Metaboliche Congenite eredit arie (AMMeC) (CG) as well as by the Arturo Estopinan TK2 Research Fund (MIH) and the Marriott Mitochondrial Disease Clinic Research Fund (MMDCRF) (MIN). FONT is funded by a Wellcome Trust Strategic Award (096919/Z/11/Z), the MRC Centre for Nleuromuscular Diseases (G0601943), the Lily Foundation and the UK NHS Highly Specialised 'Rare Mitochondrial Disorders of Adults and Children' Service. JP is funded by a Medical Research Council Project Grant (MR/101044811), Wellcome Trust Project Grant (0948685/Z/10/Z), and UK NHS Highly Specialised 'Rare Mitochondrial Disorders of Adults and Children' Service. SR acknowledges support from a Great Ormond Street Hospital Children's Charity Research Leadership award (V1260) and the Lily Foundation. PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z) and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_150112), the Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z), the Medical Research Council (UK) Centre for Translational Muscle Disease research (G0601943), EU FP7 TIRCON and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge. During this study, AS has received support from Sigrid Juselius Foundation, Jane and Aatos Erkko Foundation, Academy of Finland, European Research Council and University of Helsinki. MAM has received funding from the Spanish Instituto Salud Carlos III (ISCIII) (FIS-P112/01683). JM has received funding from the ISCIII (FIS-P114/00005), Departamento de Ciencia, Tecnologia y Universidad del Gobierno de Aragon (Grupos Consolidados B33), FEDER Funding Program from the European Union, and CIBERER, an initiative of the ISCIII. AN has received funding from 'Biobanc de l'Hospital Infantil Sant Joan de Deu per a la Investigacia' integrated in the Spanish Biobank Network of ISCIII for the sample and data procurement. YC has received funding from the Spanish Ministry of Economy and Competitiveness (BFU2014-52618-R) and AFM-Telethon (19965).; Garone , C , Taylor , R W , Nascimento , A , Poulton , J , Fratter , C , Dominguez-Gonzalez , C , Evans , J C , Loos , M , Isohanni , P , Suomalainen , A , Ram , D , Hughes , M I , McFarland , R , Barca , E , Gomez , C L , Jayawant , S , Thomas , N D , Manzur , A Y , Kleinsteuber , K , Martin , M A , Kerr , T , Gorman , G S , Sommerville , E W , Chinnery , P F , Hofer , M , Karch , C , Ralph , J , Camara , Y , Madruga-Garrido , M , Dominguez-Carral , J , Ortez , C , Emperador , S , Montoya , J , Chakrapani , A , Kriger , J F , Schoenaker , R , Levin , B , Thompson , J L P , Long , Y , Rahman , S , Donati , M A , DiMauro , S & Hirano , M 2018 , ' Retrospective natural history of thymidine kinase 2 deficiency ' , Journal of Medical Genetics , vol. 55 , no. 8 , pp. 515-521 . https://doi.org/10.1136/jmedgenet-2017-105012; http://hdl.handle.net/10138/243584; aa4c1846-216c-44f9-9a29-4754248ad194; 85047615954; 000442457100002

الاتاحة: http://hdl.handle.net/10138/243584

المؤلفون: Cristina Domínguez-González, Roberto Fernández-Torrón, Ursula Moore, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Beatriz Vélez-Gómez, Juan Antonio Cabezas, Jorge Alonso-Pérez, Laura González-Mera, Montse Olivé, Jorge García-García, Germán Moris, Juan Carlos León Hernández, Nuria Muelas, Emilia Servian-Morilla, Miguel A. Martin, Jordi Díaz-Manera, Carmen Paradas

المساهمون: Instituto de Salud Carlos III, European Commission, European Reference Network for Neuromuscular Diseases, Xarxes d'Unitats d'Expertesa Clínica en Malalties Minoritàries de Catalunya, Domínguez-Gonzalez, Cristina, Díaz-Manera, Jordi, Paradas, Carmen

المصدر: JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Adult, Neurology, Muscular Diseases, TK2, Humans, Mitochondrial Myopathies, MRI, Mitochondrial myopathy, TK2, Neurology (clinical), Muscle, Skeletal, Mitochondrial myopathy, DNA, Mitochondrial, Magnetic Resonance Imaging, MRI

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95723d780325f2c120445e6d4ee7be58
https://pubmed.ncbi.nlm.nih.gov/35286480

المؤلفون: López-Gómez, Carlos, Levy, Rebecca J, Sánchez-Quintero, María José, Juanola-Falgarona, Martí, Barca, Emanuele, Garcia Diaz, Beatriz, Tadesse, Saba, Garone, Caterina, Hirano, Michio

مصطلحات موضوعية: Patología mitocondrial - Tratamiento, ADN mitocondrial, Patología mitocondrial - Mutación, TK2 deficiency, Mitochondrial DNA, Deoxycytidine, Deoxythymidine, Therapy

Relation: Lopez-Gomez, C., Levy, R.J., Sanchez-Quintero, M.J., Juanola-Falgarona, M., Barca, E., Garcia-Diaz, B., Tadesse, S., Garone, C. and Hirano, M. (2017), Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency. Ann Neurol., 81: 641-652. https://doi.org/10.1002/ana.24922; https://hdl.handle.net/10630/32329

الاتاحة: https://hdl.handle.net/10630/32329
https://doi.org/10.1002/ana.24922

المؤلفون: Papadimas, George K., Vargiami, Efthimia, Dragoumi, Pinelopi, Van Coster, Rudy, Smet, Joél, Seneca, Sara, Papadopoulos, Constantinos, Kararizou, Evangelia, Zafeiriou, Dimitrios

المساهمون: Clinical sciences, Medical Genetics, Reproduction and Genetics

المصدر: ACTA MYOLOGICA (TESTO STAMPATO)

مصطلحات موضوعية: TK2, Medicine and Health Sciences, Genetics(clinical), mtDNA depletion syndrome, reproductive medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::603ff1adc17492f82ae0a89b3d3a93b7
https://biblio.vub.ac.be/vubir/mild-myopathic-phenotype-in-a-patient-with-homozygous-c416c--t-mutation-in-tk2-gene(f0ea90ff-19c4-43af-8f34-189bac6d10e8).html

المؤلفون: Poulton, J., Hirano, M., Spinazzola, A., Arenas Hernandez, M., Jardel, C., Lombès, A., Czermin, B., Horvath, R., Taanman, J.W., Rotig, A., Zeviani, M., Fratter, C.

المصدر: ISSN: 0925-4439 ; Biochimica et Biophysica Acta - Molecular Basis of Disease ; https://hal.archives-ouvertes.fr/hal-00537254 ; Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2009, 1792 (12), pp.1109. ⟨10.1016/j.bbadis.2009.08.016⟩.

مصطلحات موضوعية: mtDNA, mtDNA depletion, C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK, TK2

Relation: hal-00537254; https://hal.archives-ouvertes.fr/hal-00537254; https://hal.archives-ouvertes.fr/hal-00537254/document; https://hal.archives-ouvertes.fr/hal-00537254/file/PEER_stage2_10.1016%252Fj.bbadis.2009.08.016.pdf

الاتاحة: https://hal.archives-ouvertes.fr/hal-00537254
https://hal.archives-ouvertes.fr/hal-00537254/document
https://hal.archives-ouvertes.fr/hal-00537254/file/PEER_stage2_10.1016%252Fj.bbadis.2009.08.016.pdf
https://doi.org/10.1016/j.bbadis.2009.08.016

المؤلفون: Anna Karlsson, Ramon Martí, Xiaoshan Zhou, Ferran Vila-Julià, David Molina-Granada, Javier Torres-Torronteras, Yolanda Cámara, Daniel Jiménez-Heis, Cora Blázquez-Bermejo

المساهمون: [Blázquez-Bermejo C, Molina-Granada D, Vila-Julià F, Torres-Torronteras J, Martí R, Cámara Y] Grup de Recerca en Patologia Neuromuscular i Mitocondrial, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. [Jiménez-Heis D] Grup de Recerca en Patologia Neuromuscular i Mitocondrial, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona, Spain. [Zhou X, Karlsson A] Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden, Vall d'Hebron Barcelona Hospital Campus

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
EBioMedicine
Scientia

مصطلحات موضوعية: 0301 basic medicine, Mtdna, mitochondrial DNA, dCK, deoxycytidine kinase, Dtmp, deoxythymidine monophosphate, Research paper, Anabolism, Dck, deoxycytidine kinase, ADN mitocondrial, Mitochondrion, Deoxycytidine, chemistry.chemical_compound, dN, deoxynucleoside, 0302 clinical medicine, nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ADN::ADN circular::ADN mitocondrial [COMPUESTOS QUÍMICOS Y DROGAS], Longevitat, TK2, Dn, deoxynucleoside, Deoxynucleoside therapy, Mtdna depletion, TK1, thymidine kinase 1, General Medicine, Deoxycytidine kinase, dCtd, deoxycytidine, dThd, deoxythymidine, 030220 oncology & carcinogenesis, Knockout mouse, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [CHEMICALS AND DRUGS], medicine.medical_specialty, Dnmp, deoxynucleoside monophosphate, Tymp, thymidine phosphorylase gene, Ndna, nuclear DNA, Encephalomyopathy, Timidina, CNS, central nervous system, General Biochemistry, Genetics and Molecular Biology, TK2, thymidine kinase 2, 03 medical and health sciences, PBS, phosphate buffered saline, Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Mitochondrial [CHEMICALS AND DRUGS], Internal medicine, medicine, Dctd, deoxycytidine, Dntp, deoxynucleoside triphosphate, Thymidine phosphorylase, Thymidine kinase 1, dTMP, deoxythymidine monophosphate, Dthd, deoxythymidine, Physiological Phenomena::Growth and Development::Aging::Longevity [PHENOMENA AND PROCESSES], dNMP, deoxynucleoside monophosphate, KO, knockout, Thy, thymine, TP, thymidine phosphorylase, Catabolism, business.industry, mtDNA depletion, WT, wild-type, mtDNA, mitochondrial DNA, 030104 developmental biology, Endocrinology, chemistry, fenómenos fisiológicos::crecimiento y desarrollo::envejecimiento::longevidad [FENÓMENOS Y PROCESOS], enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::timidina cinasa [COMPUESTOS QUÍMICOS Y DROGAS], dNTP, deoxynucleoside triphosphate, Dcmp, deoxycytidine monophosphate, nDNA, nuclear DNA, Thymidine, business, dCMP, deoxycytidine monophosphate, CDA, cytidine deaminase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d9c527846a421620e33a8e62ea56f2
https://ddd.uab.cat/record/226556

المؤلفون: Ann Saada

المصدر: EBioMedicine

مصطلحات موضوعية: Research paper, MtDNA depletion, Respiratory chain, Gene Expression, Deoxyribonucleosides, Mitochondrion, Biology, DNA, Mitochondrial, Deoxycytidine, Thymidine Kinase, General Biochemistry, Genetics and Molecular Biology, chemistry.chemical_compound, Mice, TK2, Thymidine kinase 2, Animals, Nucleoside, mtDNA depletion syndrome, Muscle, Skeletal, Mice, Knockout, Thymidine kinase TK2, Age Factors, General Medicine, Molecular biology, Mitochondria, Deoxyribonucleoside, Enzyme Activation, chemistry, Commentary, Deoxyribonucleoside therapy, mtDNA Depletion, Energy Metabolism, Biomarkers, Thymidine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac18bbe1436334e4baaf67d18236294d
http://europepmc.org/articles/PMC6796496