Angelman syndrome
Recent articles
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.
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.
Trials test utility of EEG biomarkers for autism-related conditions
This month’s Going on Trial newsletter dives into an electroencephalography biomarker that could track the efficacy of treatments for dup15q and Angelman syndromes, among other drug development news.
Trials test utility of EEG biomarkers for autism-related conditions
This month’s Going on Trial newsletter dives into an electroencephalography biomarker that could track the efficacy of treatments for dup15q and Angelman syndromes, among other drug development news.
Is excess brain fluid an early marker of autism?
Brain scans of hundreds of infants suggest that up to 80 percent of those with autism have unusual amounts of cerebrospinal fluid. Researchers are studying how this might contribute to the condition.
Is excess brain fluid an early marker of autism?
Brain scans of hundreds of infants suggest that up to 80 percent of those with autism have unusual amounts of cerebrospinal fluid. Researchers are studying how this might contribute to the condition.
‘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.
‘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.
Prenatal exposures; Angelman trial suspension; autistic adult well-being
This month’s issue of the Null and Noteworthy newsletter breaks down some negative results involving prenatal exposures, an experimental treatment for Angelman syndrome, and the role that age at autism diagnosis plays in subsequent outcomes, and more.
Prenatal exposures; Angelman trial suspension; autistic adult well-being
This month’s issue of the Null and Noteworthy newsletter breaks down some negative results involving prenatal exposures, an experimental treatment for Angelman syndrome, and the role that age at autism diagnosis plays in subsequent outcomes, and more.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong
If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.
The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong
If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.
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.
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.
Single gene insufficient to account for dup15q, Angelman traits
UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.
Single gene insufficient to account for dup15q, Angelman traits
UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.
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.
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.
Explore more from The Transmitter
Sharing Africa’s brain data: Q&A with Amadi Ihunwo
These data are “virtually mandatory” to advance neuroscience, says Ihunwo, a co-investigator of the Brain Research International Data Governance & Exchange (BRIDGE) initiative, which seeks to develop a global framework for sharing, using and protecting neuroscience data.
Sharing Africa’s brain data: Q&A with Amadi Ihunwo
These data are “virtually mandatory” to advance neuroscience, says Ihunwo, a co-investigator of the Brain Research International Data Governance & Exchange (BRIDGE) initiative, which seeks to develop a global framework for sharing, using and protecting neuroscience data.
Cortical structures in infants linked to future language skills; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 19 May.
Cortical structures in infants linked to future language skills; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 19 May.
The BabyLM Challenge: In search of more efficient learning algorithms, researchers look to infants
A competition that trains language models on relatively small datasets of words, closer in size to what a child hears up to age 13, seeks solutions to some of the major challenges of today’s large language models.
The BabyLM Challenge: In search of more efficient learning algorithms, researchers look to infants
A competition that trains language models on relatively small datasets of words, closer in size to what a child hears up to age 13, seeks solutions to some of the major challenges of today’s large language models.