Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs.
Fischer I, Shohat S, Leichtmann-Bardoogo Y, Nayak R, Wiener G, Rosh I, Shemen A, Tripathi U, Rokach M, Bar E, Hussein Y, Castro AC, Chen G, Soffer A, Schokoroy-Trangle S, Elad-Sfadia G, Assaf Y, Schroeder A, Monteiro P, Stern S, Maoz BM, Barak B., Free PMC Article

Combined expansion and STED microscopy reveals altered fingerprints of postsynaptic nanostructure across brain regions in ASD-related SHANK3-deficiency.
Delling JP, Bauer HF, Gerlach-Arbeiter S, Schön M, Jacob C, Wagner J, Pedro MT, Knöll B, Boeckers TM., Free PMC Article

Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy.
Esmel-Vilomara R, Dougherty-De Miguel L, Artigas-Baleri A, Turón-Viñas E, Cuscó I, Díaz-Gómez A, Panadés-De Oliveira L, Rocamora R, Boronat S.

Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes.
Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest EN, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang YH., Free PMC Article

Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models.
Thibaudeau A, Schmitt K, François L, Chatrousse L, Hoffmann D, Cousin L, Weiss A, Vuidel A, Jacob CB, Sommer P, Benchoua A, Wilbertz JH., Free PMC Article

Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.
Mitz AR, Boccuto L, Thurm A.,

EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development.
Juan CX, Mao Y, Han X, Qian HY, Chu KK.

Expression profiles of the autism-related SHANK proteins in the human brain.
Woelfle S, Pedro MT, Wagner J, Schön M, Boeckers TM., Free PMC Article

Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in shank3 zebrafish models.
Kozol RA, Dallman JE., Free PMC Article

Role of the Autism Risk Gene Shank3 in the Development of Atherosclerosis: Insights from Big Data and Mechanistic Analyses.
Chang HW, Hsu MJ, Chien LN, Chi NF, Yu MC, Chen HC, Lin YF, Hu CJ., Free PMC Article

Clustering of Ca(V) 1.3 L-type calcium channels by Shank3.
Yang Q, Perfitt TL, Quay J, Hu L, Lawson-Qureshi D, Colbran RJ., Free PMC Article

YBX1-Mediated DNA Methylation-Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia.
Ni P, Zhou C, Liang S, Jiang Y, Liu D, Shao Z, Noh H, Zhao L, Tian Y, Zhang C, Wei J, Li X, Yu H, Ni R, Yu X, Qi X, Zhang Y, Ma X, Deng W, Guo W, Wang Q, Sham PC, Chung S, Li T., Free PMC Article

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D, European Phelan-McDermid syndrome consortium, Evans DG, van Ravenswaaij-Arts CMA, Kant SG.

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA, European Phelan-McDermid syndrome consortium, Hennekam RC.

SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis.
Zhang L, Bang S, He Q, Matsuda M, Luo X, Jiang YH, Ji RR., Free PMC Article

Modeling human telencephalic development and autism-associated SHANK3 deficiency using organoids generated from single neural rosettes.
Wang Y, Chiola S, Yang G, Russell C, Armstrong CJ, Wu Y, Spampanato J, Tarboton P, Ullah HMA, Edgar NU, Chang AN, Harmin DA, Bocchi VD, Vezzoli E, Besusso D, Cui J, Cattaneo E, Kubanek J, Shcheglovitov A., Free PMC Article

SHANK3 genetic polymorphism and susceptibility to ASD: evidence from molecular, in silico, and meta-analysis approaches.
Siddiqua H, Akter Y, Uddin MN, Kumkum M, Hossain MA, Aziz MA, Ahmed MS, Chowdhury MA, Islam MS, Marzan LW.

Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation.
Kankuri-Tammilehto M, Sauna-Aho O, Arvio M., Free PMC Article

Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome.
Lin R, Learman LN, Bangash MA, Melnikova T, Leyder E, Reddy SC, Naidoo N, Park JM, Savonenko A, Worley PF.

Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling.
Liu C, Li D, Yang H, Li H, Xu Q, Zhou B, Hu C, Li C, Wang Y, Qiao Z, Jiang YH, Xu X., Free PMC Article

Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD.
Tavassoli T, Layton C, Levy T, Rowe M, George-Jones J, Zweifach J, Lurie S, Buxbaum JD, Kolevzon A, Siper PM., Free PMC Article

The association of SHANK3 gene polymorphism and autism.
Mashayekhi F, Mizban N, Bidabadi E, Salehi Z.

A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
Xu N, Lv H, Yang T, Du X, Sun Y, Xiao B, Fan Y, Luo X, Zhan Y, Wang L, Li F, Yu Y., Free PMC Article

CaMKII Phosphorylation Regulates Synaptic Enrichment of Shank3.
Jeong J, Li Y, Roche KW., Free PMC Article

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.
Lutz AK, Pfaender S, Incearap B, Ioannidis V, Ottonelli I, Föhr KJ, Cammerer J, Zoller M, Higelin J, Giona F, Stetter M, Stoecker N, Alami NO, Schön M, Orth M, Liebau S, Barbi G, Grabrucker AM, Delorme R, Fauler M, Mayer B, Jesse S, Roselli F, Ludolph AC, Bourgeron T, Verpelli C, Demestre M, Boeckers TM.