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Published in 2019 at "Molecular psychiatry"
DOI: 10.1038/s41380-018-0324-x
Abstract: Genome sequencing has revealed an increasing number of genetic variations that are associated with neuropsychiatric disorders. Frequently, studies limit their focus to likely gene-disrupting mutations because they are relatively easy to interpret. Missense variants, instead,…
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Keywords:
modularity shank3;
autism;
shank3 function;
function ... See more keywords
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Published in 2021 at "Molecular Psychiatry"
DOI: 10.1038/s41380-020-00979-x
Abstract: Human mutations and haploinsufficiency of the SHANK family genes are associated with autism spectrum disorders (ASD) and intellectual disability (ID). Complex phenotypes have been also described in all mouse models of Shank mutations and deletions,…
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Keywords:
developmental impaired;
shank1 shank3;
mice;
impaired akt ... See more keywords
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Published in 2018 at "Translational Psychiatry"
DOI: 10.1038/s41398-018-0142-6
Abstract: We previously reported a new line of Shank3 mutant mice which led to a complete loss of Shank3 by deleting exons 4−22 (Δe4−22) globally. Δe4−22 mice display robust ASD-like behaviors including impaired social interaction and…
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Keywords:
autism related;
related behaviors;
brain region;
mice ... See more keywords
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Published in 2021 at "Nature neuroscience"
DOI: 10.1038/s41593-021-00888-4
Abstract: Despite a growing understanding of the molecular and developmental basis of autism spectrum disorder (ASD), how the neuronal encoding of social information is disrupted in ASD and whether it contributes to abnormal social behavior remains…
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Keywords:
social agency;
adult;
expression;
mice ... See more keywords
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1
Published in 2019 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aax1714
Abstract: Mutation of autism-associated gene SHANK3 leads to sleep problems in mice and humans. Mutation of autism-associated gene SHANK3 leads to sleep problems in mice and humans.
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Keywords:
medicine;
shank3 puts;
autism;
puts autism ... See more keywords
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Published in 2018 at "Molecular Brain"
DOI: 10.1186/s13041-018-0403-6
Abstract: The SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene encodes core scaffolds in neuronal excitatory postsynapses. SHANK3 duplications have been identified in patients with hyperkinetic disorders and early-onset generalized tonic-clonic seizures. Consistently, Shank3 transgenic…
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Keywords:
seizure partial;
spontaneous seizure;
shank3 mice;
shank3 ... See more keywords
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Published in 2021 at "eNeuro"
DOI: 10.1523/eneuro.0481-20.2021
Abstract: Abstract SHANK3 is a large scaffolding protein in the postsynaptic density (PSD) that organizes protein networks, which are critical for synaptic structure and function. The strong genetic association of SHANK3 with autism spectrum disorder (ASD)…
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Keywords:
shank3;
phosphorylation regulates;
phosphorylation;
camkii phosphorylation ... See more keywords
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Published in 2022 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2022.795668
Abstract: Synapse-associated gene mutations of SH3 and multiple ankyrin repeat domains protein 3 (SHANK3) may lead to autism spectrum disorder (ASD). In some ASD cases, patients may also have vision disorders. However, the effects of SHANK3…
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Keywords:
expression;
shank3;
shank3 positive;
outer ... See more keywords
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1
Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22041898
Abstract: SHANK3 encodes a scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+ inhibitory neurons—the key players in the generation of sensory gamma oscillations, such as 40-Hz auditory steady-state…
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Keywords:
assr;
shank3 gene;
steady state;
auditory steady ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23116081
Abstract: Autism spectrum disorders (ASDs) are characterized by repetitive behaviors and impairments of sociability and communication. About 1% of ASD cases are caused by mutations of SHANK3, a major scaffolding protein of the postsynaptic density. We…
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Keywords:
structural synaptic;
autism;
shank3;
mice ... See more keywords
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Published in 2019 at "eLife"
DOI: 10.7554/elife.42819
Abstract: Autism Spectrum Disorder (ASD) is the most prevalent neurodevelopmental disorder in the United States and often co-presents with sleep problems. Sleep problems in ASD predict the severity of ASD core diagnostic symptoms and have a…
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Keywords:
expression;
shank3;
circadian transcription;
transcription factors ... See more keywords