SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. Additional isoforms have been described for this gene but they have not yet been experimentally verified. Visa mer This gene is a member of the Shank gene family. The gene encodes a protein that contains 5 interaction domains or motifs including the ankyrin repeats domain (ANK), a src 3 domain (SH3), a proline-rich domain, a Visa mer Mutations in this gene are associated with autism spectrum disorder. This gene is often missing in patients with 22q13.3 deletion syndrome (Phelan-McDermid syndrome), although … Visa mer A rat model of SHANK3 was developed using zinc finger nucleases targeting exon 6 of the ankyrin (ANK) repeat domain. The deletion (-68bp) resulted in reduction of the full length … Visa mer • GeneReviews/NCBI/NIH/UW entry on Phelan-McDermid or 22q13.3 deletion syndrome Visa mer SHANK3 has been shown to interact with ARHGEF7. Visa mer Mouse models of SHANK3 include N-terminal knock-outs and a PDZ domain knock-out all of which also show social interaction deficits … Visa mer • Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, Krawisz A, Froehlich W, Bernstein JA, Hallmayer JF, … Visa mer Webb9 jan. 2024 · Protein homeostasis (proteostasis) is crucial to the maintenance of neuronal integrity and function. As the contact sites between neurons, synapses rely heavily on …
Autism-linked gene primes stress vulnerability in mice
WebbSHANK3 is a multifunctional scaffold protein, interacting with several actin-binding proteins and a well-established autism risk gene. Recently, SHANK3 was demonstrated … WebbIch bin Carolina Urrutia-Ruiz, eine erfahrene Forscherin, die Grundlagen- und angewandte Forschung betreibt. Ich bin ergebnisorientiert, wissbegierig, neugierig und lernbegierig. Daher möchte ich mit meiner Kreativität einen Beitrag leisten, indem ich innovative Lösungen zur Generierung von Wissen in klinischen Studien, Forschung und … bridge to pr work application
SHANK3 SH3 and multiple ankyrin repeat domains 3 …
WebbSHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of … WebbDescription: Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA. (from RefSeq NM_001372044) RefSeq Summary (NM_001372044): This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other … Webb98 Shank3, Snap25, GluR1, NR2A, and Synaptotagmin23. Increased histone acetylation (H3K9, 99 H3K14, H4K5, H4K8, and H4K12) is also evident in mice exposed to an enriched 100 environment ... 437 distinct protein interaction with HDAC1 or HDAC2 might be a better strategy to improve the canvas swc