Spliceosome mutations might result in defective spliceosome assembly, deregulated global mRNA splicing, nuclear-cytoplasm export and altered expression of multiple genes.

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 ...

Certain diseases such as cystic fibrosis and muscular dystrophy are linked to genetic mutations that damage the important biological process of rearranging gene sequences in pre-messenger RNA, a ...

An international research team has uncovered a new mechanism crucial to the production of cellular proteins. When this mechanism is disrupted, the blueprints used by the cell to produce proteins ...

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 ...

Mutations in this gene were found to be associated with a syndrome with symptoms that include intellectual disability, seizures, short stature, neurodevelopmental delay, drooling, motor delay ...

Researchers have created the first blueprint of the human spliceosome, the most complex and intricate molecular machine in human biology. The vast majority of human genes -- more than nine in ten ...

After a decade of work, scientists have completed a molecular model of the human spliceosome, an incredibly complex cellular machine. When an active gene is expressed in a cell, it is transcribed into ...

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.

Our study highlights a novel pathobiological mechanism by which the spliceosome dysregulation caused by SF3B1 mutations alters the ncBAF complex's interaction network, potentially contributing to ...

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

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 ...