The proteasome is a complex machinery in each cell which unfolds and breaks down proteins that are misfolded, damaged or no longer needed. The proteasome maturation protein (POMP) is essential [...]
Scientists from Norway and Switzerland uncovered for the first time a mutation in EPO, the gene encoding erythropoetin, as the genetic cause of an autosomal dominantly inherited form of [...]
An important role of the EDC4 gene in the intricate network regulating the repair of DNA damage and in cancer development has now been uncovered. In a study recently published in Nature [...]
Transforming growth factors beta (TGF-β) are vital in embryonic development and the regulation of many fundamental cellular functions in the human body. By binding and activating specific [...]
Researchers of the University of Edinburgh have identified mutations in BRD4 as the disease-causing genetic defect in patients with a Cornelia-de-Lange-like condition and have thus provided new [...]
SELENBP1 has been reported to be involved in the development of several cancers, although its precise function has remained elusive until now. Now scientists have uncovered that autosomal [...]
As a transcription factor, the gene product of NFE2L2, the nuclear factor-erythroid 2-related factor 2 (NRF2), regulates the expression of a large number of genes including specifically various [...]
The PRKCE gene encodes protein kinase C-epsilon, a member of a large protein kinase family of enzymes that activate important proteins and are involved in cellular functions as for example [...]
MDM2 encodes the murine double minute 2 protein, an E3 ubiquitin ligase and a principal regulator of the p53 tumor suppressor, to which it is linked in a negative feedback loop. P53 plays an [...]
The so-called KEOPS protein complex has been implicated in a range of functions. Among others, it regulates a chemical modification of tRNA which ensures accurate translation, and it also acts in [...]
