"Finally, we show that (S)-PHA533533 unsilences paternal UBE3A in Angelman syndrome (AS) patient-derived neurons, highlighting its translational potential. Our findings provide a lead for developing a small molecule treatment for AS that could be safe, non-invasively delivered, and capable of brain-wide unsilencing of paternal #UBE3A."

https://www.nature.com/articles/s41467-024-49788-8

Adult Angelman mice get some benefit from boosting UBE3A gene expression

https://www.spectrumnews.org/news/adult-angelman-mice-get-some-benefit-from-boosting-ube3a-gene-expression/

#Angelmansyndrome #clinicaltrials #geneexpression #animalmodels #genetherapy #mousemodels #treatments #autism #sleep #UBE3A #News #EEG

Beyond the bench: Finding solitude with Jill Silverman

https://www.spectrumnews.org/opinion/q-and-a/beyond-the-bench-finding-solitude-with-jill-silverman/

#Angelmansyndrome #mousemodels #autism #UBE3A #QA

Promising preclinical results prompt Angelman therapy trial

https://www.spectrumnews.org/news/promising-preclinical-results-prompt-angelman-therapy-trial/

#Angelmansyndrome #clinicaltrials #genetherapy #treatments #monkeys #autism #UBE3A #News

Angelman therapy appears safer in restarted trial

https://www.spectrumnews.org/news/angelman-therapy-appears-safer-in-restarted-trial/

#Angelmansyndrome #clinicaltrials #genetherapy #treatments #autism #UBE3A #News

Enrichment lessens Angelman-like traits in male mice

https://www.spectrumnews.org/news/enrichment-lessens-angelman-like-traits-in-male-mice/

#Angelmansyndrome #environment #motorskills #mousemodels #UBE3A #News #sex

One-shot gene therapy for Angelman syndrome shows promise in mice

https://www.spectrumnews.org/news/one-shot-gene-therapy-for-angelman-syndrome-shows-promise-in-mice/

#Angelmansyndrome #hippocampus #mousemodels #treatments #15q11-13 #autism #UBE3A #News

Dispatches from SfN 2021: Mitochondria, Rett therapy and oxytocin

https://www.spectrumnews.org/news/dispatches-from-sfn-2021-mitochondria-rett-therapy-and-oxytocin/

#Prader-Willisyndrome #synapticplasticity #Angelmansyndrome #geneexpression #socialdeficits #connectivity #mitochondria #Rettsyndrome #mousemodels #treatments #15q11-13 #autism #SHANK3 #MECP2 #SCN2A #UBE3A #News #ANK2 #sex

Paused Angelman syndrome trial to restart

https://www.spectrumnews.org/news/paused-angelman-syndrome-trial-to-restart/

#Angelmansyndrome #clinicaltrials #genetherapy #treatments #UBE3A #News