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Most relevant scientific articles
• Launay N., Ruiz M., Grau L., Ortega F.J., Ilieva E.V., Martinez J.J. et al. Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. Acta Neuropathologica. 2016:1-19.
• 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.
• Macias-Vidal J., Guerrero-Hernandez M., Estanyol J.M., Aguado C., Knecht E., Coll M.J. et al. Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1. Proteomics. 2016;16(1):150-158.
• Aguado C., Perez-Jimenez E., Lahuerta M., Knecht E. Isolation of lysosomes from mammalian tissues and cultured cells. Methods in Molecular Biology. 2016; 1449:299-311.
• Lupo V, Aguado C, Knecht E, Espinós C. Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.Frontiers in molecular biosciences. 2016; 3:81.
Hightlights
We collaborate with other units, mainly U-742, to study Lafora disease. We found malin mainly in
the nucleus, whereas only in the absence of glucose is laforin significantly located there, where
it is monoubiquitinated. We have also ruled out the association of laforin/malin with cytosolic ribonucleoprotein structures and a role in mRNA transport. All these results suggest that this complex regulates the transcription of genes related to glucose metabolism. Finally, we further investigated the autophagy alteration previously described by us, demonstrating that the AKT-mTOR-ULK1 pathway is active in laforin/malin deficient cells and discarding other pathways involving GSK3beta, FOXO1, AMPK or MAPKs. That alteration prevents the phagophore formation and the elimination of damaged material, as we have confirmed with respiratory chain uncouplers with mitochondria.
In neuronal ceroid lipofuscinoses we collaborated with U-755 in a final degree project based on the application of the CRISPR/Cas9 system to study Batten’s disease.
In collaboration with U-718 we have confirmed that CERKL protein, involved in retinitis pigmentosa, binds to mRNAs that encode anti-apoptotic proteins.
Also in 2016 the European Medicine Agency accepted the designation of temsirolimus as an orphan
drug for the treatment of X-adrenoleukodystrophy, based on a publication and a European patent (EP14382353.2) from our collaboration with U-759.
Dr. Armengod collaborates with units U-701 and U-723 studying the role of microRNAs and mutations affecting tRNAs in mitochondrial diseases (hypertrophic cardiomyopathy and pediatric liver failure associated with mutations in tRNA modifiers, MERRF and MELAS).
Together with other groups in the Valencian Community, we participated in a Framework to establish an Alliance in Translational Research to work on Rare Diseases (DOGV, No. 7654, pp. 29208-29216) and we have been part of two Joint Units on Rare Diseases between the CIPF and two Institutes of Sanitary Research (INCLIVA and IIS La Fe).
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research groups 97