Webb29 apr. 2024 · Summary: Researchers have found that sleep problems in patients with autism spectrum disorder may be linked to a mutation in the gene SHANK3 that in turn regulates the genes of the body's... WebbMy project involved the analysis of the connectome of knock-out mice for the Shank3 gene, whose mutation is associated with autism spectrum disorder in humans, using a retrograde tracing approach based on recombinant rabies virus. Thanks to this study I had the opportunity to work with animal models of diseases ...
Cells Free Full-Text Developmental Changes of Human Neural ...
WebbContrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) … WebbMutations in ProSAP/Shank genes can severely affect neuronal connectivity and have been linked to Autism Spectrum Disorders (ASD), Schizophrenia and Alzheimer’s Disease. To analyze the role of the ProSAP/Shank family members in ASD, we generated and characterized ProSAP2/Shank3 mutant mice. Focus lay on analyzing synaptic… greene county outline
Synaptic Dysfunction Connects Autism Spectrum Disorder and …
Webb16 mars 2024 · Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are detected in 1–2% of patients with autism and intellectual disability, but the mechanisms underpinning the symptoms... WebbSHANK3 (COSG79062) Genomic coordinates 22:50674642..50733210 (positive strand) Synonyms KIAA1650, PSAP2, SPANK-2, prosap2, ENSG00000251322.7 COSMIC-3D There are 3 structures for SHANK3 . View them in COSMIC-3D . Number of samples 40541 unique samples 923 unique samples with mutations Alternative transcripts … WebbSHANK3 is a leading autism candidate gene, with mutations occurring in between 1 and 2 percent of individuals with autism spectrum disorders. SHANK3 encodes a protein that … greene county osu extension office