Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Maria Adelaida García-Gimeno"'
Autor:
M. Kathryn Brewer, Maria Machio-Castello, Rosa Viana, Jeremiah L. Wayne, Andrea Kuchtová, Zoe R. Simmons, Sarah Sternbach, Sheng Li, Maria Adelaida García-Gimeno, Jose M. Serratosa, Pascual Sanz, Craig W. Vander Kooi, Matthew S. Gentry
Publikováno v:
iScience, Vol 24, Iss 11, Pp 103276- (2021)
Summary: Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either EPM2A, encodin
Externí odkaz:
https://doaj.org/article/08a505503d644df58c43dc58bd8a2937
Publikováno v:
Cells, Vol 7, Iss 8, p 87 (2018)
Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble
Externí odkaz:
https://doaj.org/article/e7da71387ab54f519fd203e121cf2585
Autor:
Ana Sanchis, María Adelaida García-Gimeno, Antonio José Cañada-Martínez, María Dolores Sequedo, José María Millán, Pascual Sanz, Rafael P. Vázquez-Manrique
Publikováno v:
Experimental and Molecular Medicine, Vol 51, Iss 6, Pp 1-16 (2019)
Huntington’s disease: Diabetes drug limits disease-related degeneration in mice Metformin, an existing drug for diabetes, shows promise in alleviating symptoms of early Huntington’s disease in mouse models. Huntington’s disease is a genetic dis
Externí odkaz:
https://doaj.org/article/9e189c31709a4e88a36088ef6c27365b
Autor:
Lorena Kumarasinghe, Lu Xiong, Maria Adelaida Garcia-Gimeno, Elisa Lazzari, Pascual Sanz, Germana Meroni
Publikováno v:
Cells, Vol 10, Iss 4, p 820 (2021)
Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrop
Externí odkaz:
https://doaj.org/article/c815fbb01cd24f80a391a11af3de43a6
Autor:
Carmen Espinós, Máximo Ibo Galindo, María Adelaida García-Gimeno, José Santiago Ibáñez-Cabellos, Dolores Martínez-Rubio, José María Millán, Regina Rodrigo, Pascual Sanz, Marta Seco-Cervera, Teresa Sevilla, Andrea Tapia, Federico V. Pallardó
Publikováno v:
Antioxidants, Vol 9, Iss 4, p 313 (2020)
Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such
Externí odkaz:
https://doaj.org/article/685cd6da72a547c1bb525d56ca7cd99e
Autor:
Luis Sendra, Antonio Miguel, Daniel Pérez-Enguix, María José Herrero, Eva Montalvá, María Adelaida García-Gimeno, Inmaculada Noguera, Ana Díaz, Judith Pérez, Pascual Sanz, Rafael López-Andújar, Luis Martí-Bonmatí, Salvador F Aliño
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0163898 (2016)
Expressing exogenous genes after naked DNA delivery into hepatocytes might achieve sustained and high expression of human proteins. Tail vein DNA injection is an efficient procedure for gene transfer in murine liver. Hydrodynamic procedures in large
Externí odkaz:
https://doaj.org/article/681086208774476fb7bdc2ec91b3864b
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0131476 (2015)
Protein phosphatase 1 (PP1) is one of the major protein phosphatases in eukaryotic cells. It plays a key role in regulating glycogen synthesis, by dephosphorylating crucial enzymes involved in glycogen homeostasis such as glycogen synthase (GS) and g
Externí odkaz:
https://doaj.org/article/53cebd980a744144820f07f53a76e000