An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function
Sign Up to like & getrecommendations! 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,… read more here.
Keywords: modularity shank3; autism; shank3 function; function ... See more keywords
Developmental impaired Akt signaling in the Shank1 and Shank3 double knock-out mice
Sign Up to like & getrecommendations! 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,… read more here.
Keywords: developmental impaired; shank1 shank3; mice; impaired akt ... See more keywords
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors
Sign Up to like & getrecommendations! 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… read more here.
Keywords: autism related; related behaviors; brain region; mice ... See more keywords
Reduced sociability and social agency encoding in adult Shank3-mutant mice are restored through gene re-expression in real time.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: social agency; adult; expression; mice ... See more keywords
SHANK3 puts autism to sleep
Sign Up to like & getrecommendations! 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. read more here.
Keywords: medicine; shank3 puts; autism; puts autism ... See more keywords
Spontaneous seizure and partial lethality of juvenile Shank3-overexpressing mice in C57BL/6 J background
Sign Up to like & getrecommendations! 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… read more here.
Keywords: seizure partial; spontaneous seizure; shank3 mice; shank3 ... See more keywords
CaMKII Phosphorylation Regulates Synaptic Enrichment of Shank3
Sign Up to like & getrecommendations! 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)… read more here.
Keywords: shank3; phosphorylation regulates; phosphorylation; camkii phosphorylation ... See more keywords
Expression of SH3 and Multiple Ankyrin Repeat Domains Protein 3 in Mouse Retina
Sign Up to like & getrecommendations! 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… read more here.
Keywords: expression; shank3; shank3 positive; outer ... See more keywords
40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication
Sign Up to like & getrecommendations! 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… read more here.
Keywords: assr; shank3 gene; steady state; auditory steady ... See more keywords
Deletion of the Autism-Associated Protein SHANK3 Abolishes Structural Synaptic Plasticity after Brain Trauma
Sign Up to like & getrecommendations! 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… read more here.
Keywords: structural synaptic; autism; shank3; mice ... See more keywords
Shank3 modulates sleep and expression of circadian transcription factors
Sign Up to like & getrecommendations! 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… read more here.
Keywords: expression; shank3; circadian transcription; transcription factors ... See more keywords