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
Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Psychiatry"
DOI: 10.1038/s41380-025-02947-9
Abstract: Mutations or deletions in the SHANK3 gene have been identified in up to 1% of autism spectrum disorder cases and are considered the primary cause of neuropsychiatric symptoms in Phelan McDermid syndrome (PMS). While synaptic… read more here.
Keywords: protein; shank3; protein synthesis; rpl3 expression ... 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
SHANK3 depletion leads to ERK signalling overdose and cell death in KRAS-mutant cancers
Sign Up to like & getrecommendations! Published in 2024 at "Nature Communications"
DOI: 10.1038/s41467-024-52326-1
Abstract: The KRAS oncogene drives many common and highly fatal malignancies. These include pancreatic, lung, and colorectal cancer, where various activating KRAS mutations have made the development of KRAS inhibitors difficult. Here we identify the scaffold… read more here.
Keywords: mapk erk; erk signalling; shank3; depletion ... See more keywords
Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling
Sign Up to like & getrecommendations! Published in 2025 at "Nature Communications"
DOI: 10.1038/s41467-025-56720-1
Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disability condition arising from a combination of genetic and environmental factors. Despite the blood-brain barrier (BBB) serving as a crucial gatekeeper, conveying environmental influences into the brain parenchyma,… read more here.
Keywords: brain; regulates tight; shank3; barrier ... 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
0198 The Influence of Shank3 Mutations on Spindle Activity During Sleep in a Mouse Model
Sign Up to like & getrecommendations! Published in 2024 at "SLEEP"
DOI: 10.1093/sleep/zsae067.0198
Abstract: Insomnia, characterized by problems falling asleep, less sleep, and a lower quality sleep, is more prevalent among individuals with autism spectrum disorders (ASD) compared to typical development. Insomnia in ASD predicts severity of symptoms and… read more here.
Keywords: shank3; spindle density; model; sleep ... 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
Behavioral decline in Shank3Δex4–22 mice during early adulthood parallels cerebellar granule cell glutamatergic synaptic changes
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Autism"
DOI: 10.1186/s13229-024-00628-y
Abstract: SHANK3, a gene encoding a synaptic scaffolding protein, is implicated in autism spectrum disorder (ASD) and is disrupted in Phelan-McDermid syndrome (PMS). Despite evidence of regression or worsening of ASD-like symptoms in individuals with PMS,… read more here.
Keywords: cerebellar granule; granule cell; shank3 ex4; shank3 ... See more keywords