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Spectrum: Autism Research News

Tag: UBE3A

September 2023
Research image of presynapses on sensory neurons in fruit flies.

UBE3A’s link to synaptic pruning bolstered by fly study

by  /  28 September 2023

Increasing or reducing the levels of the UBE3A gene, which is associated with autism and autism-related syndromes, results in altered patterns of synaptic pruning — a process that snips away brain cell connections.

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July 2023
Research image of interneurons in the outer layer of a human brain.

‘Gain-of-function’ mutation spawns autism traits

by  /  24 July 2023

The mutation increases the activity of an autism-linked protein and leads to social difficulties and other behavioral differences in mice.

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April 2023
Long-tailed macaque in the canopy of a fruiting strangler fig tree, surrounded by ripening figs. Gunung Palung National Park, Borneo.

RNA therapy restores gene function in monkeys modeling Angelman syndrome

by  /  7 April 2023

The result raises hopes for an ongoing clinical trial in people — and offers fresh insight into the biology of imprinting and the UBE3A antisense transcript.

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February 2023
Picture of a caged mouse with an EEG implanted.

Adult Angelman mice get some benefit from boosting UBE3A gene expression

by  /  9 February 2023

The treatment eases the animals’ sleep troubles, suggesting it has clinically meaningful effects beyond what was thought to be a critical window in early life.

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January 2023
Jill Silverman sits at her desk with her dog.

Beyond the bench: Finding solitude with Jill Silverman

by  /  17 January 2023

The people-focused researcher shares her secrets to carving out time for grant writing, creating work-life balance and letting go of unread emails.

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August 2022

Promising preclinical results prompt Angelman therapy trial

by  /  25 August 2022

Roche’s gene therapy drug Rugonersen boosts expression of the protein missing in the syndrome in mice and monkeys, but whether it works in people remains to be seen.

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An Ultragenyx employee removes materials from a lab freezer.

Angelman therapy appears safer in restarted trial

by  /  5 August 2022

Interim results from the previously paused trial suggest that doses of the experimental gene therapy drug GTX-102 are well tolerated in children with the autism-linked condition.

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February 2022

Enrichment lessens Angelman-like traits in male mice

by  /  2 February 2022

Model animals don’t develop the usual behavioral and motor problems when reared in an enclosure containing exercise wheels, toys and treats.

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November 2021
UBE3A expression in mouse brain slices, shown in green.

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

by  /  29 November 2021

A potential new gene therapy delivered via a single injection mimics ratios of proteins normally found in cells.

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Dispatches from SfN 2021: Mitochondria, Rett therapy and oxytocin

These short reports from Spectrum journalists highlight some of the autism-related findings that caught our attention at the meeting this past week.

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