UBE3A

Recent articles

A hand holds a stack of speech bubbles.

Leveraging the power of community to strengthen clinical trials for rare genetic syndromes

Families can become not only participants but champions of these research efforts.

By Shafali Spurling Jeste
11 July 2024 | 7 min read
Research image of presynapses on sensory neurons in fruit flies.

UBE3A’s link to synaptic pruning bolstered by fly study

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.

By Giorgia Guglielmi
28 September 2023 | 5 min read
Research image of interneurons in the outer layer of a human brain.

‘Gain-of-function’ mutation spawns autism traits

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

By Giorgia Guglielmi
24 July 2023 | 5 min read
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

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.

By Brendan Borrell
7 April 2023 | 5 min read

Adult Angelman mice get some benefit from boosting UBE3A gene expression

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.

By Angie Voyles Askham
9 February 2023 | 5 min read
Jill Silverman sits at her desk with her dog.

Beyond the bench: Finding solitude with Jill Silverman

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

By Peter Hess
17 January 2023 | 7 min read

Promising preclinical results prompt Angelman therapy trial

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.

By Angie Voyles Askham
25 August 2022 | 6 min read
An Ultragenyx employee removes materials from a lab freezer.

Angelman therapy appears safer in restarted trial

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.

By Angie Voyles Askham
5 August 2022 | 4 min read

Enrichment lessens Angelman-like traits in male mice

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

By Peter Hess
2 February 2022 | 4 min read
UBE3A expression in mouse brain slices, shown in green.

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

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

By Charles Q. Choi
29 November 2021 | 5 min read

Explore more from The Transmitter

Research image of a portion of mouse brain.

Stress warps fear memories in multiple ways

Expanding the bounds of a fear memory or linking it to a neutral memory can shape a mouse’s fear response, two new studies show.

By Claudia López Lloreda
15 November 2024 | 5 min read
Illustration of overlapping silhouettes of two faces in profile facing a matrix of dots of various colors and sizes.

How to be a multidisciplinary neuroscientist

Neuroscience subfields are often siloed. Embracing an integrative approach during training can help change that.

By Austin Coley
15 November 2024 | 5 min read
Research image of mouse brain slices.

Newfound gene network controls long-range connections between emotional, cognitive brain areas

The finding could help unravel gene regulatory networks and explain how genetic and environmental factors interact in neurodevelopmental conditions.

By Charles Q. Choi
14 November 2024 | 4 min read