Tuberous sclerosis

Recent articles

Autism’s ties to the cell skeleton

Many genes related to the condition play a role in the internal scaffolding of cells, and cytoskeletal disruptions can affect neurodevelopment and behavior.

By Giorgia Guglielmi
22 June 2023 | 7 min read
Research image showing the impact of a gene mutation on a synapse.

Tweaks to autism-linked pathway tilt circuits’ signaling balance

Altered expression of TSC2 and the mTOR pathway reshape the formation of certain synapses between inhibitory and excitatory neurons in mice.

By Angie Voyles Askham
31 January 2023 | 4 min read
Lab images of cilia.

Autism and the cell’s antennae

Many autism-linked genes are somehow tied to cilia, the tiny hair-like sensors that stud a cell’s surface. But the question remains whether, and how, cilia differences contribute to the condition.

By Giorgia Guglielmi
4 January 2023 | 6 min read
A composite of many scans of mice illustrating the effectiveness of an experimental drug.

Two-drug combo blunts autism-linked pathway in brain

One drug blocks mTOR signaling, and the other stops the blocker from acting anywhere in the body but the brain, lowering the potential for side effects.

By Peter Hess
14 October 2022 | 3 min read
Illustration of a binocular microscope with an X Chromosome in one eyepiece and cancer cells in the other.

The cloudy connection between fragile X and cancer

People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.

By Giorgia Guglielmi
28 September 2022 | 8 min read

Autism model mice develop typical social and motor behaviors after drug treatment

The drug suppresses an overactive signaling pathway implicated in tuberous sclerosis complex.

By Laura Dattaro
9 March 2022 | 5 min read
Dr. Shafali Jeste portrait with a vibrant fuschia background.

Shafali Jeste: Early autism meets its match

Shafali Jeste has spent the bulk of her scientific career searching for biological markers of autism. Her goal: to improve lives through early diagnosis and speedy testing of therapies.

By Emily Laber-Warren
30 November 2021 | 11 min read

Deep-learning model may accurately predict autism diagnosis

The algorithm estimates a child’s likelihood of having autism from patterns of co-occurring conditions in electronic health records, outperforming a widely used screening test.

By Anna Goshua
28 October 2021 | 5 min read
A concerned man holds his toddler close

Severe infection may raise odds of autism in some children

Mock viral infections impair social memory in mice with a mutation tied to autism, and autistic boys are more likely than their non-autistic peers to have had serious infections early in life.

By Giorgia Guglielmi
17 September 2021 | 5 min read

Molecular overlap links tuberous sclerosis, fragile X

Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.

By Rachel Zamzow
16 August 2021 | 5 min read

Explore more from The Transmitter

Sox different neurons.

Early trajectory of Alzheimer’s tracked in single-cell brain atlases

Inflammation in glia and the loss of certain inhibitory cells may kick off a disease cascade decades before diagnosis.

By Angie Voyles Askham
23 October 2024 | 8 min read
Research image of four brain scans with green areas indicating Parasagittal dura volume.

Okur-Chung neurodevelopmental syndrome; excess CSF; autistic girls

Here is a roundup of autism-related news and research spotted around the web for the week of 21 October.

By Jill Adams
22 October 2024 | 2 min read
A collage illustration of a woman’s face fragmented by a mosaic of X chromosomes, lines and shapes.

Brains, biases and amyloid beta: Why the female brain deserves a closer look in Alzheimer’s research

New results suggest the disease progresses differently in women, but we need more basic science to unpack the mechanisms involved.

By Rachel Buckley
22 October 2024 | 7 min read