Tag

Rna Splicing

All articles tagged with #rna splicing

Machine learning decodes microexon splicing to uncover rare autism-linked variants
science6 days ago

Machine learning decodes microexon splicing to uncover rare autism-linked variants

A new study identifies hundreds of previously unknown neuronal microexons and uses machine learning to define the regulatory code governing their splicing. This approach reveals rare genetic variants that disrupt microexon regulation, linking them to autism spectrum disorder in individuals without known genetic causes.

Cryo-EM reveals sequential mechanism for human spliceosome termination and intron decay
science11 days ago

Cryo-EM reveals sequential mechanism for human spliceosome termination and intron decay

Researchers have mapped the molecular steps of spliceosome termination in human cells using cryo-electron microscopy. The study identifies two distinct intermediate states, the ILSAQR and the DIS, which facilitate the extraction, debranching, and ejection of introns. This process ensures the recycling of spliceosome components and the degradation of intronic RNA, maintaining cellular RNA homeostasis.

Alcohol Damage Traps Liver Cells in a Regenerative Limbo via RNA Splicing Errors
science1 month ago

Alcohol Damage Traps Liver Cells in a Regenerative Limbo via RNA Splicing Errors

New research reveals that alcohol-related liver disease prevents organ repair by trapping cells in an abnormal intermediate state. Inflammation from alcohol processing suppresses the ESRP2 protein, causing widespread RNA splicing errors that mislocate critical proteins. This disrupts the liver's ability to regenerate, even after drinking stops, offering new targets for diagnosis and treatment.

Boosting NAD+ Rewires RNA Splicing to Undo Alzheimer's Brain Damage
neuroscience8 months ago

Boosting NAD+ Rewires RNA Splicing to Undo Alzheimer's Brain Damage

An international study shows boosting NAD+ levels can protect and reverse Alzheimer's-related brain damage by activating an EVA1C-regulated RNA-splicing pathway, correcting mis-splicing, improving hundreds of genes tied to brain health, and restoring memory in worm and mouse models with supporting human brain data—hinting at a new therapeutic approach beyond targeting plaques or tangles.

Excessive Alcohol Consumption Impairs Liver Regeneration and Promotes Fatty Liver Disease
health1 year ago

Excessive Alcohol Consumption Impairs Liver Regeneration and Promotes Fatty Liver Disease

A new study reveals that chronic alcohol use impairs liver regeneration by causing RNA missplicing due to ESRP2 deficiency, leading to cells being trapped in a non-functional state, which contributes to liver failure. The findings suggest potential treatment pathways targeting inflammation and RNA splicing to improve liver recovery.

Unveiling the Intricate Mechanisms of Intron Catalysis and Dynamics in Splicing
science-and-technology2 years ago

Unveiling the Intricate Mechanisms of Intron Catalysis and Dynamics in Splicing

Scientists have gained new insights into the structural organization and catalytic mechanisms of group II introns, which are RNA molecules involved in splicing. Using cryo-electron microscopy, researchers visualized the intron ribonucleoprotein (RNP) complex at different stages of splicing. They discovered the intricate molecular interactions that position the branch helix and recognize the branchpoint nucleotide. The study also revealed the conformational dynamics of the intron RNP during the splicing process. These findings provide a better understanding of the fundamental reactions involved in RNA splicing and shed light on the evolution of splicing machines.