Benvinguts al Repositori Digital de la UPF

El repositori institucional recull, difon i preserva la producció intel·lectual en format digital que resulta de l’activitat acadèmica i investigadora de la UPF, les revistes científiques i les publicacions institucionals. La seva finalitat és contribuir a augmentar l’impacte de la investigació feta a la UPF i preservar la memòria intel·lectual de la UPF.

Comunitats

Enviaments recents

  • Corbella, Joan M. (2019-11-20)
  • Le Dily, François; Beato, Miguel (MDPI, 2018)
    Initial studies showed that ligand-activated hormone receptors act by binding to the proximal promoters of individual target genes. Genome-wide studies have now revealed that regulation of transcription by steroid hormones ...
  • Kodra, Yllka; Lochmüller, Hanns; Taruscio, Domenica (MDPI, 2018)
    Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They ...
  • Boczonadi, Veronika; Meyer, Kathrin; Gonczarowska-Jorge, Humberto; Griffin, Helen; Roos, Andreas; Bartsakoulia, Marina; Bansagi, Boglarka; Ricci, Giulia; Palinkas, Fanni; Zahedi, René P.; Bruni, Francesco; Kaspar, Brian; Lochmüller, Hanns; Boycott, Kym M.; Müller, Juliane; Horvath, Rita (Oxford University Press, 2018)
    The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA ...
  • Issop, Yasmin; Hathazi, Denisa; Khan, Muzamil Majid; Rudolf, Rüdiger; Weis, Joachim; Spendiff, Sally; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (Oxford University Press, 2018)
    Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other ...

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