SHANK3

Publications

Beri S et al. DNA methylation regulates tissue-specific expression of Shank3. J Neurochem. 2007;101(5):1380–1391. PMID: 17419801.

Campbell M K et al. USP8 deubiquitinates SHANK3 to control synapse density and SHANK3 activity-dependent protein levels. J Neurosci. 2018;38(23):5289–5301. PMID: 29735556.

Choi S-Y et al. Post-transcriptional regulation of SHANK3 expression by microRNAs related to multiple neuropsychiatric disorders. Mol brain. 2015;8(1):74. PMID: 26572867.

Darville H et al. Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome. EBioMedicine. 2016;9:293–305. PMID: 27333044.

Durand C M et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007;39(1):25–27. PMID: 17173049.

Guilmatre A et al. The emerging role of SHANK genes in neuropsychiatric disorders. Dev Neurobiol. 2014;74(2):113–122. PMID: 24124131.

Han K et al. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013;503(7474):72–7. PMID: 24153177.

Li Y et al. Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. Am J Med Genet A. 2018;176(12):2668–2676. PMID: 30537371.

Lutz A et al. Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles. Sci Transl Med. 2020;12(547). PMID: 32522805.

Maunakea A K et al. Conserved Role of Intragenic DNA Methylation in Regulating Alternative Promoters. Nature. 2010;466(7303):253–257. PMID: 20613842.

Serret S et al. Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports. BMC Psychiatry. 2015.15(1):107. PMID: 25947967.

Tabet AC et al. A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ Genom Med. 2017;2:32. PMID: 29263841.

Tatavarty V et al. Autism-Associated Shank3 Is Essential for Homeostatic Compensation in Rodent V1. Neuron. 2020;106(5):769-777.e4. PMID: 32199104.

Tsilchorozidou T et al. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. J Med Genet. 2004;41(7):529–534. PMID: 15235024.