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A New Mechanism for an Old Disease

A study in today's Cell, shows how the loss of E3 ubiquitin ligase can cause Angelman syndrome, a genetic disorder that causes developmental problems in children. More than 10 years ago, researchers found that Angelman was caused by a single gene mutation, but could not explain the mechanism. Harvard's Michael Greenberg and his colleagues found that the loss of Ube3A interferes with the brain's ability to use environmental experiences to fine-tune neuronal circuits. Under normal conditions, the Ube3A enzyme tags cellular proteins, such as the synaptic protein Arc, for destruction. However, with a mutated Ube3A, Arc accumulates to higher-than-normal levels, causing an abnormal lowering of neuronal signaling. This study also connects the mutation to other mental retardation disorders. Based on these findings, the researchers are hoping to find a treatment for Angelman syndrome.

The Scan

Billions for Antivirals

The US is putting $3.2 billion toward a program to develop antivirals to treat COVID-19 in its early stages, the Wall Street Journal reports.

NFT of the Web

Tim Berners-Lee, who developed the World Wide Web, is auctioning its original source code as a non-fungible token, Reuters reports.

23andMe on the Nasdaq

23andMe's shares rose more than 20 percent following its merger with a special purpose acquisition company, as GenomeWeb has reported.

Science Papers Present GWAS of Brain Structure, System for Controlled Gene Transfer

In Science this week: genome-wide association study ties variants to white matter stricture in the brain, and more.