Lopez del Amo, V; Palomino-Schätzlein, Martina; Seco-Cervera, Marta; Garcia-Gimenez, José Luis; Pallardó-Calatayud, Federico V.; Pineda-Lucena, Antonio; Galindo-Orozco, Máximo Ibo(Elsevier, 2017)
[EN] Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 ...
Palomino-Schätzlein, Martina; Escrig Aparici, Pablo Vicente; Boira Tortajada, Herminio; Primo Millo, Jaime; Pineda-Lucena, Antonio; Cabedo Escrig, Nuria(American Chemical Society, 2011-10-09)
13C nuclear magnetic resonance (NMR) spectroscopy was explored as a simple and efficient technique for the quantitative analysis of nonpolar metabolites in plants. The method was first optimized with a mixture of known ...
Tapia, Andrea; Giachello, Carlo N.; Palomino-Schätzlein, Martina; Baines, Richard A.; Galindo, Máximo Ibo(MDPI AG, 2021-11)
[EN] Dravet syndrome is a severe rare epileptic disease caused by mutations in the SCN1A gene coding for the Nav1.1 protein, a voltage-gated sodium channel alpha subunit. We have made a knock-out of the paralytic gene, the ...
[EN] In a global aging population, it is important to understand the factors affecting systemic aging and lifespan. Mitohormesis, an adaptive response caused by different insults affecting the mitochondrial network, triggers ...