Researchers have identified mutations in the non-coding gene RNU2-2 as a cause of a newly defined neurodevelopmental disorder, often accompanied by severe epilepsy.

A complex molecular machine, the spliceosome, ensures that the genetic information from the genome, after being transcribed into mRNA precursors, is correctly assembled into mature mRNA. Splicing ...

While investigating a rare developmental disorder, researchers ended up discovering a spectrum of conditions that are all linked to one gene.

A new process that is essential to the synthesis of cellular proteins has been discovered by an international research team.

Experiments on zebrafish combined with mathematical calculations In experiments with zebrafish, the team has now managed to fill this knowledge gap. Their findings reveal that spliceosome subunits ...

Researchers unveil the inner mechanisms of the most intricate and complex molecular machine in human biology. Scientists at the Centre for Genomic Regulation (CRG) in Barcelona have developed the ...

Researchers have created the first blueprint of the human spliceosome, the most complex and intricate molecular machine inside every cell.

One of her main conclusions is that the 300 components of the spliceosome are so interconnected that the failure of one can trigger a domino effect. The researchers manipulated the SF3B1 component, ...

Researchers at the Centre for Genomic Regulation (CRG) in Barcelona have created the first blueprint of the human spliceosome, the most complex and intricate molecular machine in human biology ...

Detailed map of the spliceosome is being made publicly available to help researchers pinpoint exactly where splicing errors are occurring in a patient's cells.