Timothy syndrome
Recent articles
Organoids and assembloids offer a new window into human brain
These sophisticated 3D cultures reveal previously inaccessible stages of human brain development and enable the systematic study of disease genes.
Organoids and assembloids offer a new window into human brain
These sophisticated 3D cultures reveal previously inaccessible stages of human brain development and enable the systematic study of disease genes.
RNA drug corrects calcium signaling in chimeric model of Timothy syndrome
The drug, tested in rats that have human neurons, could enter clinical testing as early as next year, researchers say.
RNA drug corrects calcium signaling in chimeric model of Timothy syndrome
The drug, tested in rats that have human neurons, could enter clinical testing as early as next year, researchers say.
Human cortical organoids forge functional circuits in rat brains
The transplanted cells integrate into living animals’ neural circuitry and influence behavior.
Human cortical organoids forge functional circuits in rat brains
The transplanted cells integrate into living animals’ neural circuitry and influence behavior.
Mini-brains bare tortuous trek of cells in Timothy syndrome
A new technique for building a ‘brain in a dish’ reveals how neurons move to their proper places during fetal development.
Mini-brains bare tortuous trek of cells in Timothy syndrome
A new technique for building a ‘brain in a dish’ reveals how neurons move to their proper places during fetal development.
Mighty element plays major part in autism
Probing the function of a protein in a calcium signaling pathway may lead to a diagnostic test for autism and a path toward treatments.
Mighty element plays major part in autism
Probing the function of a protein in a calcium signaling pathway may lead to a diagnostic test for autism and a path toward treatments.
Rising Star: Sergiu Pasca, scientist at play
Sergiu Pasca was among the first to model autism with neurons from affected individuals, a feat that could reveal the biochemical roots of some forms of autism.
Rising Star: Sergiu Pasca, scientist at play
Sergiu Pasca was among the first to model autism with neurons from affected individuals, a feat that could reveal the biochemical roots of some forms of autism.
Rho family of enzymes at crossroads of autism
A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell's structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
Rho family of enzymes at crossroads of autism
A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell's structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
Molecular mechanisms: Timothy syndrome neurons defective
Neurons from people with Timothy syndrome, and from mouse and rat models of the disorder, have defects in the growth of their branches, according to a study published 13 January in Nature Neuroscience.
Molecular mechanisms: Timothy syndrome neurons defective
Neurons from people with Timothy syndrome, and from mouse and rat models of the disorder, have defects in the growth of their branches, according to a study published 13 January in Nature Neuroscience.
Exploring enigmatic links between mitochondria and autism
Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.
Exploring enigmatic links between mitochondria and autism
Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.
Allen Institute aims to mass-produce stem cells
The nonprofit Allen Institute for Brain Science in Seattle plans to make neurons from stem cells derived from people with a number of different disorders. The resource, described 25 September at a conference in New York, will be available to all scientists.
Allen Institute aims to mass-produce stem cells
The nonprofit Allen Institute for Brain Science in Seattle plans to make neurons from stem cells derived from people with a number of different disorders. The resource, described 25 September at a conference in New York, will be available to all scientists.
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Emotion research has a communication conundrum
In 2025, the words we use to describe emotions matter, but their definitions are controversial. Here, I unpack the different positions in this space and the rationales behind them—and I invite 13 experts to chime in.
Emotion research has a communication conundrum
In 2025, the words we use to describe emotions matter, but their definitions are controversial. Here, I unpack the different positions in this space and the rationales behind them—and I invite 13 experts to chime in.
Autism-linked copy number variants always boost autism likelihood
By contrast, varied doses of the same genes decrease or increase the odds of five other conditions, with distinct biological consequences, two new preprints show.
Autism-linked copy number variants always boost autism likelihood
By contrast, varied doses of the same genes decrease or increase the odds of five other conditions, with distinct biological consequences, two new preprints show.
Everything everywhere all at once: Decision-making signals engage entire brain
The findings, gleaned from the most comprehensive map yet of brain activity during decision-making in mice, show that the process is even more distributed than previously thought.
Everything everywhere all at once: Decision-making signals engage entire brain
The findings, gleaned from the most comprehensive map yet of brain activity during decision-making in mice, show that the process is even more distributed than previously thought.