All Outputs (2)

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. (2024)
Journal Article
Atkinson, R., Georgiou, M., Yang, C., Szymanska, K., Lahat, A., Vasconcelos, E. J. R., …Lako, M. (2024). PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature Communications, 15(1), Article 3138. https://doi.org/10.1038/s41467-024-47253-0

The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used patient indu... Read More about PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects..

Cellular senescence drives age-dependent hepatic steatosis (2017)
Journal Article
Ogrodnik, M., Miwa, S., Tchkonia, T., Tiniakos, D., Wilson, C. L., Lahat, A., …Jurk, D. (2017). Cellular senescence drives age-dependent hepatic steatosis. Nature Communications, 8, https://doi.org/10.1038/ncomms15691

The incidence of non-alcoholic fatty liver disease (NAFLD) increases with age. Cellular senescence refers to a state of irreversible cell-cycle arrest combined with the secretion of proinflammatory cytokines and mitochondrial dysfunction. Senescent c... Read More about Cellular senescence drives age-dependent hepatic steatosis.