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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

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Molecular model of histone protein which wraps up DNA strands.

New condition hints at structural protein’s role in autism

by  /  22 January 2021
Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.
News
DNMT3A protein attaches a methyl group tag onto the DNA base cytosine.

Autism-related conditions converge on same loss of DNA tags

by  /  20 January 2021
Mutations in the autism-linked gene DNMT3A lead to the behaviors and gene-expression changes seen in different neurodevelopmental conditions.
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Illustration of firing neurons.

Autism protein may shape neuronal firing patterns

by  /  14 January 2021
Cells with excess UBE3A, an autism-linked protein, have atypical firing properties that can be corrected by limiting the protein's levels, according to new research.
January 2021
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Lost sleep sparks lasting social problems in SHANK3 mice

by  /  14 January 2021

Sleep disruption early in life has long-lasting consequences for mice missing a copy of the autism-linked gene SHANK3.

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New gene therapy methods deliver promise

by  /  14 January 2021

Two unpublished studies detail improved techniques for delivering gene therapies to the brain.

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Mouse with her pup
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Malfunctioning neurons mute sound processing in mouse model of Rett syndrome

by  /  14 January 2021

Female mice missing a copy of the autism-linked gene MECP2 in a specific set of inhibitory neurons have a hard time heeding pups’ calls and herding litters.

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Two top autism genes may have a mechanism in common

by  /  13 January 2021

Mutations in two genes linked to autism and intellectual disability boost the immune response and cause synapse dysfunction.

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neurons in mice
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Sensory perception, cell signals disrupted in people and mice missing autism gene

by  /  13 January 2021

People and mice with only one working copy of the autism gene SYNGAP1 may have trouble processing sights and sounds.

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Two mice in a rotarod machine
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Mouse study sounds note of caution for Rett syndrome therapies

by  /  13 January 2021

Treatments for Rett syndrome that aim to boost levels of the protein MECP2 may not help everyone with the condition.

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Four white mice on a rotarod, blue background.
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Motor skills, brain volume affected in mouse model of DDX3X syndrome

by  /  13 January 2021

Mice missing one copy of the autism-linked gene DDX3X have smaller brains and worse motor skills than mice with both copies of the gene, according to a new unpublished study.

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Neurons in cerebella of mice with fewer branches and spines.
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Cerebellum alterations crop up in mice missing autism gene

by  /  12 January 2021

Deleting the autism-linked gene CNTNAP2 from mice leads to distinct cellular and electrical changes in the cerebellum, according to two unpublished studies presented virtually today at the 2021 Society for Neuroscience Global Connectome.

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dopamine neurons in mice show up green in an area of the brain associated with social reward.
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Dopamine neurons may dampen social behavior in mouse model of autism

by  /  12 January 2021

Mice missing a copy of the autism-linked gene PTEN show a reduced preference for social interaction, possibly due to atypically large, overconnected dopamine neurons. Easing the overconnection may alleviate this trait.

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Neurons show structural changes, seen in black and white.
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Loss of a top autism gene may alter neuron structure

by  /  12 January 2021

Mutations in the autism-linked gene ASH1L change how neurons grow and develop.

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