Page 69 - CIBERER2016-ENG

Most relevant scientific articles
• Santacatterina F, Sánchez-Cenizo L, Formentini L, Mobasher MA, Casas E, Rueda CB et al. Down- regulation of oxidative phosphorylation in the liver by expression of the ATPase inhibitory factor 1 induces a tumor-promoter metabolic state.Oncotarget. 2016;7(1):490-508.
• Garcia-Bermudez J., Cuezva J.M. The ATPase Inhibitory Factor 1 (IF1): A master regulator of energy metabolism and of cell survival. Biochimica et Biophysica Acta - Bioenergetics. 2016;1857(8):1167-1182.
• Gallego-Villar L., Rivera-Barahona A., Cuevas-Martin C., Guenzel A., Perez B., Barry M.A. et al. In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder. Free Radical Biology and Medicine. 2016; 96:1-12.
• Oyarzabal A., Bravo-Alonso I., Sanchez-Arago M., Rejas M.T., Merinero B., Garcia-Cazorla A.
et al. Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism. Biochimica et Biophysica Acta - Molecular Basis of Disease. 2016;1862(4):592-600.
• Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016;12(1):1-222.
Hightlights
The more relevant activities developed by our group in the field of Rare Diseases have been focused in peripheral neuropathies within the TREAT-CMT project in collaboration with U-732 and U-763. In this project we have identified proteins and metabolites in skin biopsies and in plasma samples respectively, of Charcot-Marie-Tooth 1A patients that could provide early biomarkers of the disease (Plos One, 2017, under revision). In the same arena, we have contributed in phenotyping the GDAP1 -/- mouse model of CMT disease (Plos Biology, 2015). In inflammatory myopathies, in collaboration with U-722, we have identified new biomarkers for the differential diagnosis of dermatomyositis and sporadic inclusion bodies myositis in muscle biopsies of these patients (J. Trans. Med. 2017). In collaboration with U-746 we have characterized the metabolic phenotype of different tissues of the genetic mouse model of propionic acidemia at different ages (Free Rad. Biol. Med., 2016). In pathologies affecting the OXPHOS system, in collaboration with
U-723 and U-701, we are pursuing the identification of novel biomarkers in muscle biopsies of patients affected by progressive external ophthalmoplegia (PEO) with single or multiple deletion of mitochondrial DNA. In addition, we have demonstrated the importance of the regulation of the phosphorylation of the mitochondrial ATP synthase inhibitor IF1 in mitochondrial pathophysiology (Cell Rep. 2015, Biochim. Biophys. Acta 2016 y Cell. Mol. Life Sci. 2017). In this regard, we have developed and characterized the transgenic mouse models that overexpress in a regulated and tissue-specific way IF1 in liver (Oncotarget 2016) and in colon (Cell Rep. 2017 under revision). Moreover, we have initiated the development of the conditional knock-out mouse model of IF1 in neurons.
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research groups 69