All Relations between Autism Spectrum Disorder and shank3

Publication Sentence Publish Date Extraction Date Species
Hongwon Kim, Byounggook Cho, Hanseul Park, Junyeop Kim, Siyoung Kim, Jaein Shin, Christopher J Lengner, Kyoung-Jae Won, Jongpil Ki. Dormant state of quiescent neural stem cells links Shank3 mutation to autism development. Molecular psychiatry. 2022-04-21. PMID:35444258. dormant state of quiescent neural stem cells links shank3 mutation to autism development. 2022-04-21 2023-08-13 mouse
Yue Xu, Ya'nan Wang, Guang'an Tong, Lin Li, Juan Cheng, Lesha Zhang, Qi Xu, Liecheng Wang, Pingping Zhan. Expression of SH3 and Multiple Ankyrin Repeat Domains Protein 3 in Mouse Retina. Frontiers in cellular neuroscience. vol 16. 2022-04-11. PMID:35401120. synapse-associated gene mutations of sh3 and multiple ankyrin repeat domains protein 3 (shank3) may lead to autism spectrum disorder (asd). 2022-04-11 2023-08-13 mouse
A Kolevzon, M S Breen, P M Siper, D Halpern, Y Frank, H Rieger, J Weismann, M P Trelles, B Lerman, R Rapaport, J D Buxbau. Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome. Molecular autism. vol 13. issue 1. 2022-04-09. PMID:35395866. phelan-mcdermid syndrome (pms) is caused by haploinsufficiency of the shank3 gene and is characterized by global developmental delays and autism spectrum disorder (asd). 2022-04-09 2023-08-13 Not clear
Maximiliano Rapanelli, Jamal B Williams, Kaijie Ma, Fengwei Yang, Ping Zhong, Rajvi Patel, Manasa Kumar, Luye Qin, Benjamin Rein, Zi-Jun Wang, Bibi Kassim, Behnam Javidfar, Lizette Couto, Schahram Akbarian, Zhen Ya. Targeting histone demethylase LSD1 for treatment of deficits in autism mouse models. Molecular psychiatry. 2022-03-17. PMID:35296809. here, we show that histone lysine 4 dimethylation (h3k4me2), a histone mark linked to gene activation, is significantly decreased in the prefrontal cortex (pfc) of autistic human patients and mutant mice with the deficiency of top-ranking autism risk factor shank3 or cul3. 2022-03-17 2023-08-13 mouse
S Sethuram, T Levy, J Foss-Feig, D Halpern, S Sandin, P M Siper, H Walker, J D Buxbaum, R Rapaport, A Kolevzo. A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome. Molecular autism. vol 13. issue 1. 2022-01-30. PMID:35093163. phelan-mcdermid syndrome (pms) is caused by 22q13 deletions including shank3 or pathogenic sequence variants in shank3 and is among the more common rare genetic findings in autism spectrum disorder (asd). 2022-01-30 2023-08-13 human
Stamatina Tzanoulinou, Stefano Musardo, Alessandro Contestabile, Sebastiano Bariselli, Giulia Casarotto, Elia Magrinelli, Yong-Hui Jiang, Denis Jabaudon, Camilla Bellon. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular psychiatry. 2022-01-13. PMID:35022531. inhibition of trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a shank3 mouse model of autism. 2022-01-13 2023-08-13 mouse
Stamatina Tzanoulinou, Stefano Musardo, Alessandro Contestabile, Sebastiano Bariselli, Giulia Casarotto, Elia Magrinelli, Yong-Hui Jiang, Denis Jabaudon, Camilla Bellon. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular psychiatry. 2022-01-13. PMID:35022531. mutations in the shank3 gene have been recognized as a genetic risk factor for autism spectrum disorder (asd), a neurodevelopmental disease characterized by social deficits and repetitive behaviors. 2022-01-13 2023-08-13 mouse
Stamatina Tzanoulinou, Stefano Musardo, Alessandro Contestabile, Sebastiano Bariselli, Giulia Casarotto, Elia Magrinelli, Yong-Hui Jiang, Denis Jabaudon, Camilla Bellon. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular psychiatry. 2022-01-13. PMID:35022531. while heterozygous shank3 mutations are usually the types of mutations associated with idiopathic autism in patients, heterozygous deletion of shank3 gene in mice does not commonly induce asd-related behavioral deficit. 2022-01-13 2023-08-13 mouse
Robert A Kozol, David M James, Ivan Varela, Sureni H Sumathipala, Stephan Züchner, Julia E Dallma. Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits. Communications biology. vol 4. issue 1. 2021-12-18. PMID:34921227. restoring shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits. 2021-12-18 2023-08-13 zebrafish
Simone Chiola, Kandy L Napan, Yueqi Wang, Roman M Lazarenko, Celeste J Armstrong, Jun Cui, Aleksandr Shcheglovito. Defective AMPA-mediated synaptic transmission and morphology in human neurons with hemizygous SHANK3 deletion engrafted in mouse prefrontal cortex. Molecular psychiatry. vol 26. issue 9. 2021-11-24. PMID:33558651. shank3 is a postsynaptic scaffolding protein of excitatory synapses that has been found mutated or deleted in most patients with 22q13 deletion syndrome and about 2% of individuals with idiopathic autism and intellectual disability. 2021-11-24 2023-08-13 mouse
Siiri I Salomaa, Mitro Miihkinen, Elena Kremneva, Ilkka Paatero, Johanna Lilja, Guillaume Jacquemet, Joni Vuorio, Lina Antenucci, Konstantin Kogan, Fatemeh Hassani Nia, Patrik Hollos, Aleksi Isomursu, Ilpo Vattulainen, Eleanor T Coffey, Hans-Jürgen Kreienkamp, Pekka Lappalainen, Johanna Ivask. SHANK3 conformation regulates direct actin binding and crosstalk with Rap1 signaling. Current biology : CB. vol 31. issue 22. 2021-11-24. PMID:34610274. shank3 is a multifunctional scaffold protein, interacting with several actin-binding proteins and a well-established autism risk gene. 2021-11-24 2023-08-13 Not clear
Farhad Mashayekhi, Nahid Mizban, Elham Bidabadi, Zivar Saleh. The association of SHANK3 gene polymorphism and autism. Minerva pediatrics. vol 73. issue 3. 2021-11-22. PMID:27271042. the association of shank3 gene polymorphism and autism. 2021-11-22 2023-08-13 Not clear
Farhad Mashayekhi, Nahid Mizban, Elham Bidabadi, Zivar Saleh. The association of SHANK3 gene polymorphism and autism. Minerva pediatrics. vol 73. issue 3. 2021-11-22. PMID:27271042. shank3 is suggested as a strong candidate gene for the pathogenesis of autism and its loss results in disruption of synaptic function. 2021-11-22 2023-08-13 Not clear
Farhad Mashayekhi, Nahid Mizban, Elham Bidabadi, Zivar Saleh. The association of SHANK3 gene polymorphism and autism. Minerva pediatrics. vol 73. issue 3. 2021-11-22. PMID:27271042. the present study was aimed to evaluate whether rs9616915 polymorphism of shank3 are related with the susceptibility to autism. 2021-11-22 2023-08-13 Not clear
Chunxue Liu, Dongyun Li, Haowei Yang, Huiping Li, Qiong Xu, Bingrui Zhou, Chunchun Hu, Chunyang Li, Yi Wang, Zhongwei Qiao, Yong-Hui Jiang, Xiu X. Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. Progress in neurobiology. vol 200. 2021-11-09. PMID:33388374. shank3 deficiency represents one of the most replicated monogenic risk factors for autism spectrum disorder (asd) and shank3 caused asd presents a unique opportunity to understand the underlying neuropathological mechanisms of asd. 2021-11-09 2023-08-13 human
Livia O Loureiro, Jennifer L Howe, Miriam S Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y S Lau, Christian R Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M E Lewis, Peter Szatmari, Clarrisa A Lisa Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W Schere. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ genomic medicine. vol 6. issue 1. 2021-11-09. PMID:34737294. a recurrent shank3 frameshift variant in autism spectrum disorder. 2021-11-09 2023-08-13 Not clear
Gonzalo H Otazu, Yan Li, Zachary Lodato, Adel Elnasher, Katherine M Keever, Ying Li, Raddy L Ramo. Neurodevelopmental malformations of the cerebellum and neocortex in the Shank3 and Cntnap2 mouse models of autism. Neuroscience letters. vol 765. 2021-11-08. PMID:34555490. neurodevelopmental malformations of the cerebellum and neocortex in the shank3 and cntnap2 mouse models of autism. 2021-11-08 2023-08-13 mouse
Gonzalo H Otazu, Yan Li, Zachary Lodato, Adel Elnasher, Katherine M Keever, Ying Li, Raddy L Ramo. Neurodevelopmental malformations of the cerebellum and neocortex in the Shank3 and Cntnap2 mouse models of autism. Neuroscience letters. vol 765. 2021-11-08. PMID:34555490. in the present report, we document the presence of cerebellar and neocortical heterotopia in heterozygous and ko shank3 and cntnap2 mice which are due to the c57bl/6 genotype and discuss the role these malformations may play in research using these genetic models of autism. 2021-11-08 2023-08-13 mouse
Luye Qin, Kaijie Ma, Zhen Ya. Rescue of histone hypoacetylation and social deficits by ketogenic diet in a Shank3 mouse model of autism. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2021-10-27. PMID:34703011. rescue of histone hypoacetylation and social deficits by ketogenic diet in a shank3 mouse model of autism. 2021-10-27 2023-08-13 mouse
Luye Qin, Kaijie Ma, Zhen Ya. Rescue of histone hypoacetylation and social deficits by ketogenic diet in a Shank3 mouse model of autism. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2021-10-27. PMID:34703011. the diminished histone acetylation is also recaptured in an autism mouse model with the deficiency of the shank3 gene encoding a synaptic scaffolding protein. 2021-10-27 2023-08-13 mouse